Final finals! > HaemOnc > Flashcards

HaemOnc Flashcards

(501 cards)

Study These Flashcards
1
Q

Which clotting pathway does PT/INR assess?

A

Extrinsic pathway

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What factors might affect PT/INR

A

Anticoagulant use
Liver failure
DIC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What pathway does APTT assess?

A

Intrinsic pathway

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What factors does APTT assess?

A

Factors 8(and vWF), 9 and 100

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the most common causes of increased APTT

A

Haemophilia A (8), B (9), C(11) and vWF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is DIC

A

Inappropriate activation of the clotting cascades-> thrombus formation and depletion of clotting factors and platelets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe the aetiology of DIC

A

Major trauma/burns
Multi-organ failure
Severe infection/sepsis
Severe obstetric complications
Malignancies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Describe the signs and symptoms of DIC

A

Excessive bleeding-> from ears, nose, cannula sites, gums, haematuria
New confusion/disorientation
Signs of hemorrhage -> petechiae, purpura, bruising, livedo reticularis
Hypotension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How is DIC diagnosed?

A

FBC: thrombocytopenia
Coagulation screen-> raised PT (consumption of clotting factors ) and APTT, decreased fibrinogen
Elevated D-dimer (fibrin degradation product)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Name some differentials for DIC

A

Acute hepatic failure
Vitamin K deficiency
HELLP syndrome
Idiopathic purpura fulminans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe the management of DIC

A

Treat underlying cause
Supportive treatment
Platelet transfusion if bleeding
FFP for porlonged APT and APTT
Prophylactic heparin for thrombosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Name some complications of DIC

A

Multi organ failure
Life threatening haemorrhage
Cardiac tamponade
Haemathroax
Intracranial heamorrhage
Gangrene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is myeloma?

A

Type of cancer affecting plasma cells(B lymphocytes that producie antibodies) in bone marrow. Multiple myeloma-> myeloma addects multiple bone marrow areas in the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is monoclonal gammopathy of undetermined significance (MGUS)

A

Production of speciifc paraprotein without other features of myeloma or cancer-often incidental finding with small risk to progression to myeloma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is smouldering myeloma

A

Abnormal plasma cells and paraproteins but no organ damage or sx-> greater risk of pregression than MGUS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Describe the pathophysiology of multiple myeloma

A

Genetic mutation-> rapid proliferation of a single type of plasma cell whcih produces a specific paraprotein (M protein)-> high level of this (paraproteinemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What does Bence Jones protein refer to

A

Free light chains in urine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Describe the presentation of multiple myeloma

A

CRAB
Calcium-elevated-> moans, groans, bones, stones
Renal failure
Anaemia
Bone lesions and bone pain, pathological fractures

Weight loss, fever of unknown oerigin, fatigue
Hyperviscosity
Amyloidosis
Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Describe the anaemia associated with multiple myeloma

A

Normocytic normochromic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How does multiple myeloma cause bone disease

A

Increased osteoclast activity and suppressed osteoblast activity-> osteolytic lesions-> pathological fractures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How does multiple myeloma cause hypercalcaemia

A

Increased osteoclast activity increases calcium reabsorption from bone into blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are common sites of myeloma bone disease

A

Skull
Spine
Long bones
Ribs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How does multiple myeloma lead to renal disease

A

Paraprotein deposition in kidneys
Hypercalcaemia
Dehydration
Glomerulonephritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are some symptoms of hyperviscosity

A

Headache
Visual changes-> retinal haemorrhages
Neurological complications like stroke
Heart failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Name some risk factors for multiple myeloma
Older age Men Black ethnic origin Family history Obesity
26
What first line investigations might be done to check for multiple myeloma
FBC-anaemia/leukopenia U&E-renal impairment, hypercalcaemia Raised ESR Serum protein electrophoresis-> paraprotinaemia Serum free light chain assay-> light chains Urine protein electrophoresis-> Bence Jones protein
27
What would be seen on urine protein electrophoresis in a patient with mutliple myeloma
Bence-Jones proteins
28
What is diagnostic for multiple myeloma?
Bone marrow biopsy
29
What imaging is used to assess for bone lesions in mutliple myeloma
Whole body MRI Whole body CT Skeletal survery-> osteolytic bone lesions and pathological fractures
30
What are some typical x-ray findings inmutliple myeloma
Well defined lytic lesions-> punched out Diffuse osteopenia Abnormal factures Raindrop skull/pepper pot skull-> multiple lytic lesions on skull
31
Describe the management of mutliple myeloma
Chemotherapy-thalimdomie, steroids High dose chemo and stem cell transplant Manage bine disease-> bisphosphonates, ortho surgery
32
How can mutliple myeloma present as an emergency and how can this be managed?
Acute renal failure-> treat volume depletion Hypercalcaemia-> fluids and bisphosphonates Hyperviscosity-> plasmapheresis Spinal cord compression-> radiotherapy emergency
33
Can myeloma be cured?
No-relapsing remitting disease
34
Whtat are the 2 types of stem cell transplantation
Autologous: own stem cells Alllogenic: using donor's stem cells
35
Name some complications of multiple myeloma
bone disease Renal dysfunction Infections Anaemia Spinal cord compression Hyperviscosity syndrome, VTE
36
What is basal cell carcinoma
Skin cancer originating from basal keratinocytes within the epidermis, usually secondary to DNA damage caused by UV radiation
37
Name some risk factors for basal cell carcinoma
Family history/personal hx Genetic syndromes Pale skin/light hair-fitzpatrick type 1/2 High levels of sun or UV light exposure immunosuppression Chronic inflammation Old age Male
38
Describe the pathophysiology of BCC
Genetic mutations-> uncontrolled proliferation of basal cells-> activaton of hedgehog pathway Local tissue invasion and destruction but typically no metastases
39
How can BCC be classified
Nodular-mc-raised shiny pink or translucent nodule with central ulceration or crusting Morphoeic (sclerosing) Keratotic Pigmented Superficial-looks like eczema or psoriatic
40
Describe the signs and symptoms of BCC
Very slow-growing Sun-exposed sites, especially head and neck Initially pearly felsh coloured papule with telangiectasia Usually, asx-no bleeding/pain
41
Name some differentials for a BCC
Squamous cell carcinoma Melanoma Seborrheic keratosis Actinic keratosis
42
How is BCC diagnosed
Excision biopsy with 4mm margin(treat and dx at same time)
43
How is BCC managed?
Surgical excision Radiotherapy Cryotherapy Curettage Lifestyle advice like sun block
44
Name some complications of BCC
Local invasion/destruction Recurrence Rare to metastasise
45
What is squamous cell carcinoma?
Locally invasive malignant tumour of epidermal keratinocytes
46
Name some risk factors for SCC
Excessive sunlight exposure/UV light Actinic keratoses Immunosuppression Smoking Geentic conditions
47
Describe the features of SCC
Sun exposed sites Rapidly expanding painless ulcerate nodules Cauliflower appearance May be pain tenderness and bleeding
48
How is SCC diagnosed/managed?
Excision biopsy: <20mm diameter: 4mm margins >20mm: 6mm margin
49
Name some factors associated with a good prognosis for SCC
Well differentiated <20mm diameter <2mm deep No associated disease
50
Name some factors associated with a poor prognosis for squamous cell carcinoma
Poorly differentiated tumours >20mm diameter >4mm deep Immunosuppression
51
How is SCC managed?
Surgical excision-4mm/6mm margin Mohs micrographic surgery-looked under microscope in real time Radiotherapy Cryotherapy Curettage Lifestyle advice like sun block
52
What is melanoma?
Skin cancer that arises from the melanocytes
53
Name some risk factors for developing malignant melanoma
Family history/personal history Genetic syndromes Skin type prone to burning, Fitzpatrick type 1 or 2 Immunosuppression Smoking Age and male Sun/UV exposure, sunburn hx in childhood
54
What are the 4 types of melanoma and which is the most aggressive?
Nodular-most aggressive and 2nd most common Superficial spreading-most common Lentigo maligna Acral lentiginous
55
Describe the signs and sx of melanoma
ABCDE Asymmetry Border irregularity Colour variegation Diameter >6mm Elevation/evolution over time Itchiness and bleeding (Change in size, shape, colour)
56
How is melanoma diagnosed>
Suspicious lesion-> excision biopsy minimum 2mm margin Sentinel node biopsy if Breslow thickness >1mm PET/CT scans for metastases if clinical suspicion
57
What is the most important prognostic factor for melanoma?
Breslow thickness-determined histologically Measured in mm from top of granular later in epidermis to deepest point the tumour extends
58
Describe the relationship between excision margin and Breslow thickness
Excise with 2mm margin then further excision based on: 0-1mm thick: 1cm 1-2mm: 1-2cm 2-4mm: 2-3 cm >4mm: 3cm
59
Describe the management of melanoma
Excision Lymph node clearance if involved Adjuvant immunotherapy/chemo if metastatic Radiotherapy
60
What are the different types of testicular cancer?
Germ cell (95%) -Can be: 1) Seminoma (55%) 2) Teratoma (33%) 3 mIXED OR Non germ cells: Leydig tumours/sarcomas
61
What age does testicular cancer most commonly affect men?
2-45 years Seminomas:35 Teratomas: 25
62
Name some risk factors for testicular cancer
Infertility Cryptorchidism Family history Klinefelter's syndorme Mumps orchities White <45 yrs
63
Describe the signs and sx of testicular cancer
Painless lump in scrotum Pian in minority Hydrocele Germ cells tumours: hormone production -> Gynaecomastia (increased oestrogen: androgen ratio)
64
Why can testicular cancer cause gynaecomastia
Increased oestrogen: androgen ratio Germ cell tumours-> hCG-> Leydig cell dysfunction-> increases in both oestradio and testosterone but rise in oestradiol is greater Leydig cell tumours-> secrete more oestradiol
65
What tumour markers are there for testicular cancer
Seminomas: hCG in 2-% non-seminomas: AFP and/or beta hCG LDH elevated in around 40% of germ cell tumours
66
Name some differentials for testicular cancer
Testicular torsion Hydrocele Varicocele Epididymitis
67
How is testicular cancer diagnosed?
USS 1st line Serum tumour markers (ADP, HCG, LDH)
68
What is the 2 week wait referral criteria for testicular cancer
Non-painful enlargement or change in shape/texture of testis
69
How is testicular cancer treated?
Radical orchidectomy Radiotherapy/chemo depending on type
70
What kind of cancer are the majority of prostate cancers?
Adenocarcinomas
71
What part of the prostate does prostate cancer typically affect first and how does it spread
Peripheral prostate Spread lymphatically via obturator nodes
72
Name some risk factors for prostate cancer
Non-modifiable: -African ethnicity -BRCA gene mutations -Fhx prostate cancer -Age Modifiable: -Obesity -Smoking -Diet rich in animal fats and dairy products
73
Describe the presentation of prostate cancer
Early stages usually asx-> develops peripherally, so no obstruction first -Urinary sx from bladder outlet obstruction-> hesitancy, retention, difficulty initiating/stopping, poor urine stream --Haematospermia (blood in semen) -Pelvic pain -Bone pain-> metastatic disease -Erectile dysfunction
74
Name some differentials for prostate cancer
BPH Prostatitis UTI Bladder cancer
75
What is the 1st line investigation for prostate cancer and what would it show?
DRE: asymmetrical, hard, nodular enlargement with loss of median sulcus
76
What si the 2 week wait referral criteria for suspected prostate cancer
DRE feels malignant
77
Name some causes of a falsely raised PSA
Active UTI or in last 6 weeks Ejaculation in last 48 hours Vigorous exercise like cycling in 48 hours Urological intervention like biopsy in previosu 6 weeks
78
What is the gold standard test for diagnosing prostate cancer
Multiparametric MRI -Results reported using Likert scale >=3: prostate biopsy offered 1-2: discuss pros and cons of biopsy Used to be transrectal guided biopsy
79
What is PSA
Prostate specific antigen Serine protease enzyme produced by normal and malignany prostate epitherlial cells
80
When should PSA testing be used?
Consider in men with suspected prostate cancer Offered to men >50yrs who request one
81
What scoring system is used for prostate cancer
Gleason score
82
Describe the TNM scoring for prostate cnacer
T1: not palpable or visible by imaging T2@ tumour confined to prostate T3: beyond prostate T3: invades adjacent structures like bladder, rectum N0: no lymh node involvement N1: regional node involvement M0: no distant metastatsis M1: distant metastases present
83
Describe the management for T1/T2 localised prostate cancer
Conservative-watch and wait Radical prostatectomy Radiotherapy
84
What is a common complication of radical prostatectomy
Erectile dysfunction
85
Describe the management of T3/T3 advanced prostate cancer
Hormonal therapy Radical prostatectomy Radiotherya[
86
What are the adverse effects of radiotherapy for prostate cancer
Proctitis Increased risk of bladder, colon and rectal cancer
87
What hormonal therapies are used for prostate cancer
Aim to reduce testosterone levels -GnRH agonists-goserelin (paradoxically result in lower LH levels long term by causing overstimulation)
88
What is a pathological fracture
Fracture without the presence of major trauma
89
What are the main causes of pathological fractures
Tumour-either primary or metastatic Osteoporosis Hyperparathyroidism Paget's Multiple myeloma Prolonged steroid treatment
90
What carcinomas are recognised to most frequently metastasise to bone
Lung Breast Prostate Less common: Thryoid Renal
91
What are the most common sites for skeletal metastases
Spine Proximal femur Pelvis
92
How might the presentation of a pathological fracture differ
Still local pain, swelling, loss of function, bruising Slower onset
93
How are pathological fractures managed?
Treat underlying disease Fracture repair-> immobilisation, surgery, other
94
What is the most common type of pancreatic cancer
adenocarcinoma, typically from the ehad of the pancreas
95
Name some risk factors for developing pancreatic cancer
Age Smoking Obesity Diabetes Chronic pancreatitis Family history Genetic mutations-> BRCA2, Lynch syndrome Multiple endocrine neoplasia
96
Describe the presentation of pancreatic cancer
PAINLESS JAUNDICE Hepatmoegaly from metastases Gallbladder Epigastric mass Epigastric pain Non specific signs: anorexia, weight loss Loss of exocrine function (steatorrhoea) Loss of endocrine function (diabetes) migratory thrombophlebitis
97
What pain is associated with pancreatic cancer
Epigastric pain radiating to the back worse on lying down
98
What is Coursoivier's law
In the presence of painless obstructive jaundice, a palpable gallbladder is unlikely to be due to gallstones
99
What is Trousseau's syndrome?
Migratory thrombophlebitis-mc in pancreatic cancer
100
Where does pancreatic cancer commonly metastasis
Lung Liver Bowel
101
Name some differentials for pancreatic cancer
Chronic pancreatitis Cholangiocarcinoma Gastric cancer HCC
102
What are the 2 week wait referral criteria for pancreatic cancer
>=40 yrs with jaundice-appointment Urgent CT scan if aged >60yrs with weight loss AND: -diarrhoea -back pain -abdominal pain -nausea -vomiting -constipation -new onset diabetes
103
How is suspected pancreatic cancer investigated?
Ultrasonography initially-> tumours, potential liver mets and dilation of common bile duct High resolution CT abdo/pelvis-> ix of choice-> double duct sign seen
104
What is seen on imaging in a patient with pancreatic cancer
'double duct sign'-> simultaneous dilation of common bile and pancreatic ducts
105
How is pancreatic cancer managed?
Often not suitable for surgery by time of dx Whipple's resection (pancreaticoduodenectomy) with adjuvant chemo Palliative: endoscopic stunt insertion palliative surgery chemo and radiotherapy pain management and psych support
106
What are the criteria for doing a Whipple for pancreatic cancer
No evidence of SMA or coeliac artery involvement No evidence of distant metastases
107
What are the main origins of oesophageal cancer
Squamous cell carcinoma-mc globally, seen in upper 2/3 or oesophagus Adenocarcinoma (on the rise and now most common in developed countries), seen in lower 1/3 of oesophagus
108
When is oesophageal adenocarcinoma likely to develop?
Patients with a history of GORD or Barrett's
109
Name some risk factors for oesophageal cancer
Smoking High alcohol intake Obesity and GORD Achalasia Oesophageal web High intake of hot beverages Plummer Vinson syndrome for squamous cell cancer
110
Describe the signs and sx of oesophageal cancer
Progressive dysphagia-mc sx (initially solids, later liquids, occurs when obstruction of 2/3 of lumen) Wight loss Odynophagia Hoarsemess if invasion or compression of recurrent laryngeal nerve Melaena
111
Name some differentials for oesophageal cancer
GORD Achalasia Peptic stricture Zenker diverticulum Neurological causes like MND Oesophagitis
112
What are the 2 week wait referral criteria for oesophageal cancer
Upper GI endoscopy in people with dysphagia OR >55yrs with weight loss and either (upper abdo pain, reflux or dyspepsia)
113
How is oesophageal cancer diagnosed?
Upper GI endoscopy with biopsy Staging: -Endoscopic USS CT chest abdo pelvis MRI
114
Describe the management of oesophageal cancer
If operable: surgical resection with Ivor-Lewis type oesophagectomy Adjuvant chemo
115
What is the most prevalent type of gastric cancer?
Adenocarcinoma-> arises from glandular epithelium of stomach lining
116
Name some risk factors for gastric cancer
Smoking H.Pylori High alcohol intake Pernicious anaemia, atrophic gastritis Diet: salt, nitrates
117
Describe the signs and sx of gastric cancer
Abdominal pain-vague, epigastric Weight loss Nausea and vomiting Dysphagia Melaena/haematemesis Lymphadenopathy
118
What specific signs of lymphatic spread are there for gastric cancer?
Left supraclavicular lymph node: Virchow's node Periumbilical nodule: Sister Mary Joseph's node
119
Name some differentials for gastric cancer
Peptic ulcer disease Gastritis
120
What are the criteria for a 2 week wait referral for gastric cancer
-Upper abdominal mass consistent with stomach cancer -Offer direct upper GI endoscopy in 2 weeks to people with dysphagia OR aged >55 yrs + weight loss + 1of: -Upper abdo pain -Reflux -Dyspepsia -Consider non urgent access ot GI undoscopy in people with haematemesis
121
How is gastric cancer diagnosed?
Oesophago-gastro-duodenoscopy with biopsy-> signet ring cells (higher number associated with a worse prognosis) CT chest abdo pelvis for metastatic disease
122
How is gastric cancer treated?
-Endoscopic mucosal resection -Partial gastrectomy -Total gastrectomy Chemo
123
What is Barrett's oesophagus?
Metaplasia of lower oesophageal mucosa with usual squamous epithelium being replaced by columnar epithelium
124
What are the risk factors for Barrett's oesophagus?
Longstanding GORD Male Obesity Smoking Hiatus hernia Increasing age (NOT alcohol)
125
What does Barrett's oesophagus put you at risk for
Oesophageal adenocarcinoma
126
What are the symptoms of Barrett's oesophagus
Pain in upper abdo/chest Heartburn Acid taste in mouth Bloating Belching
127
What are the ALARM sx?
Anaemia Loss of weight Anorexia Recent onset/progressive sx Melaena
128
What is the gold standard for diagnosing Barrett's oesophagus
OGD
129
Describe the management of Barrett's oesophagus
High dose PPI-not much evidence Encoscopic surveillance with biopsies-metaplasia but no dysplasia, endoscopy every 3 yrs If dysplasia present-> radiofrequency ablation 2)endoscopic mucosal resection
130
What are the commonest types of bladder cancer
Urothelial (transitional cell) carcinoma Squamous cell carcinoma Adenocarcinoma
131
Name some risk factors for urothelial (transitional cell) carcinoma of the bladder
Smoking Exposure to aromatic amines-rubber, dyes Wxposure to aniline dyes-printing and textile industry Cyclophosphamide
132
What are some risk factors for squamous cell carcinoma of the bladder
Schistosomiasis Smoking Long term catheterisation
133
What are the signs and sx of bladder cancer
Painless visible haematuria -Recurrent UTI's -Hydronephrosis Unintended weight loss Night sweats
134
How can bladder cancer cause pain in the medial thgih
Invade adjacent structures like obturator nerve-> neuropathic pain on medial thight
135
Name some differentials for bladder cancer
UTI BPH Interstitial cystitis
136
What are the 2 week wait referral criteria for suspected bladder cancer
>=45yrs with unexplained visible haematuria withotu UTI OR Visible haematuria that persists or recurs after tx >=60yrs with unexplained non-visible haematuria and either dysuria or raised WCC on blood test Consider non urgent referral if >60 with recurrent or unexplained UTI
137
How is bladder cancer diagnosed
Bedside-heamaturia CT urogram 1) Flexible cystoscopy and biopsy
138
Describe the management of bladder cancer
Non-muscle invasive: -Transurethral resection of bladder tumour (TURBT)-GS Chemotherapy like mitomycin C and immunotherapy Muscle invasive: -Stage T2 and above: -Radical cystectomy with urinary diversion -GS
139
Name some strong risk factors for colorectal cancers
Increasing age Alcohol Smoking Processed meat Obesity IBD Hereditary syndromes
140
What hereditary syndromes are associated with colorectal cancer
Familial adenomatous polyposis Hereditary nonpolyposis colorectal cancer (Lynch syndrome) Juvenile polyposis Peutz-Jegher's syndrome
141
Describe the spread of location of colorectal cancers
Rectal (40%) Signoid (30%) Descending colon (5%) Transverse colon (10%) Ascending colon and caecum (15%)
142
Describe the sc of colorectal cancer
Change in bowel habit Rectal bleeding Abdo pain and discomfort Weight loss Anaemia Bowel obstruction
143
What screening is currently in place for colorectal cancer
Faecal immunochemical test every 2 years for men and women age 54-74 yrs#If positive-> colonoscopy
144
Describe the 2 week wait referral criteria for susepcted colorectal cancer
FIT in adults with: -Abdo mass -Change in bowel habit -Iron deficiency anaemia ->=40 with unexplained wt loss and abdo pain -<50yrs with rectal bleeding and abdo pain/weight loss >50 and rectal bleeding/abdo pain/weight loss >60yrs with anaemia even if its not iron deficiency FIT>10 mcg-> 2week colonoscopy If rectal mass-> straight for colonoscopy
145
What marker is associated with colorectal cancer
CEA-carcinoembryonic antigen
146
How is colorectal cancer diagnosed
FBC anaemia FIT test Colonoscopy and biopsies CT abdo/pelvis/CT
147
What resection is done for caecal, ascending or proximal transverse colon cancer?
Right hemicolectomy
148
What resection is done for distal transverse, descending colon cancer
Left hemicolectomy
149
What resection is done for sigmoid colon and rectal cancer
Anterior resection
150
What are some commonly used neoadjuvant chemos for colorectal cancer
FOLFOX and FOLFIRI
151
What gene mutation is associated with familal adenomatous polyposis and what inheritance is it
APC gene Autosomal dominant-> guraranteed cancer by 20s, unless undergo prophylactic proctocolecotmy
152
Describe the features of hereditary non-polyposis colorectal cancer (HNPCC/lynch syndrome)
Mismathc in repair genes MLH1/MSH2 Autosomal dominant Increased risk of colorectal cancer, gastric, endometrial, breast and prostate cancer Regulr endoscopic surveillance
153
Describe the features of Peutz-Jehgers syndrome
Mutation in STK11 gene Autosomal dominant
154
What are the main types of lymphoma
Hodgkin's Non-Hodgkin's MALT lymphoma
155
What is MALT lymphoma
Mucosa associated lymphoid tissue lymphoma Low grade non-Hodgkin's lymphoma that originates from the B lymphocytes in the marginal zone
156
What are the 2 progenitors that arise from the haematopoietic stem cell?
Common myeloid progenitor Common lymphoid progenitor
157
What cells arise from the common myeloid progenitor
Erythrocytes Platelets Myeloblasts Myeloblasts then give rise to: -Basophil -Neutrophil -Eosinophil -Monocyte
158
What cells arise from the common lymphoid progenitor
Lymphoblast-> gives rise to T lymphocyte and B lymphocyte
159
What is the lifespan of red blood cells
3 months
160
What is the lifespan of platelets?
10 days
161
What might anisocytosis on a blood film indicate?
myelodysplastic syndrome
162
What might target cells on a blood film indicate
Iron deficiency anaemia Post-splenectomy
163
What might Heinz bodies on a blood film indicate
G6PD deficiency Alpha thalassaemia
164
What might Howell-Jolly bodies on a blood film indicate?
Post-splenectomy Severe anaemia
165
What might reticulocytes on a blood film indicate?
haemolytic anaemia
166
What might smudge cells on a blood film indicate?
Chronic lymphocytic anaemia
167
What is lymphoma?
Type of cancer affecting the lymhocytes inside the lymphatic system-> cancer cells proliferate inside the lymph nodes
168
What cells are affected by non-Hodgkin's lymphoma
Either B or T cells
169
Name some risk factors for non-Hodgkin's lymphoma
Eldelry Caucasian Immunodeficiency Autoimmune diseases Hx of chemo/radiotherapy Infectious associations: EBV-Burkitt lymphoma H pylori-MALT lymphoma
170
What features on clinical presentation might help distinguish between non-Hodgkin's lymphoma and Hodgkin's
Hodgkin's: alcohol induced pain in lymph nodes B sx start earlier in Hodgkin's Extra-nodal disease more common in non-Hodgkin's
171
Describe the presentation of non-Hodgkin's lymphoma
Painless lymphadenopathy-> symmetrical, multiple sites, firm, cervical, axillary and/or inguinal B sx: fever, night sweats, weight loss Splenomegaly/hepatomegaly Testicular mass
172
What might be found on blood tests done to check for non-Hodgkin's lymphoma
Elevated LDH-important prognostic marker Normocytic anaemia or haemolytic anaemia
173
What is the diagnostic investigation for non-Hodgkin's lymphoma
Excisional node biopsy
174
What appearance will Burkitt's lymphoma have on biopsy
Starry sky appearance
175
What investigation is used for staging in non-Hodgkin's lymphoma
CT chest abdo pelvis PET scan
176
What staging system is used in lymphoma
Lugano staging (previously Ann Arbor)
177
Describe Lugano staging for non-Hodgkin's lymphoma
Stage 1: single lymph node region or single extralymphatic site Stage 2: Same side of diaphragm but >=2 lymph nodes or >=1 lymph node with extralymphatic site Stage 3: Both sides of diaphragm, may be localised involvement of organ like spleen Stage 4: Diffuse involvement of >=1 extralymphatic organs A/B: 'B' with B sx E: extranodal disease S: spleen involvement X: bulky disease
178
Describe the management of non-Hodgkin's lymphoma
Rituximab (anti-CD20 monoclonal antibody) used with chemo (CHOP-cyclophosphamide, doxorubicin, vincristine, prednisolone) Stem cell transplantation for relapse
179
What should be checked for prior to treatment with rituximab?
Screen for Hep B-> can be reactivated if prior exposure
180
What additional measures should used to protect patients whilst undergoing treatment for non-Hodgkin's lymphoma
Flu/pneumococcal vaccine Neutropenia-> abx prophylaxis
181
Name some complications of non-Hodgkin's lymphoma
Bone marrow infiltration-> anaemia, neutropenia, thrombocytopenia SVC obstruction Metastasis Spinal cord compression Tx side effects
182
Describe the prognosis of non-Hodgkin's lymphoma
Low grade: better prognosis High grade: worse prognosis but better cure rate
183
What type of lymphoma is Burkitt's lymphoma
Non-Hodgkin's lymphoma
184
What is Burkitt's lymphoma and what are the 2 types
High-grade B-cell neoplasm 1) Endemic (African) form: maxilla/mandible 2) Sporadic: abdominal-ileo-caecal tumours-more common in patients with HIV
185
What lymphoma are patients with coeliac disease more at risk of?
Enteropathy associated T cell lymphoma
186
What gene translocation is implicated in Burkitt's lymphoma
t (8:14)
187
Which lymohoma is a common cause of tumour lysis syndrome
Burkitt lymphoma
188
What is given pre-treatment for Burkitt lymphoma to reduce the risk of tumour lysis syndrome?
Rasburicase
189
Describe the aetiology of gastric MALT lymphoma
H pylori-95% AI conditions are also risk factors
190
Describe the symptoms of gastric MALT lymphoma
Abdo pain Nausea and vomiting Sx of anaemia Weight loss
191
How is gastric MALT lymphoma diagnosed?
Endoscopy and biopsy, immunohistochemistry Staging: CT and PET
192
How is gastric MALT lymphoma managed?
H pylori eradication therapy-can resolve lymphoma Chemo and radiotherapy, rituximab
193
What is Hodgkin's lymphoma?
Malignant proliferation of lymphocytes characterised by the presence of Reed-Sternberg cells
194
Describe the ages most commonly affected by Hodgkin's lymphoma
Bimodal age distribution-most common in 3rd and 7th decades
195
Name some risk factors for Hodgkin's lymphoma
HIV EBV Immunosuppression Smoking
196
Describe the presentation of Hodgkin's lymphoma
Supraclavicular asymmetrical non-tender lymphadenopathy is classic-alcohol induced pain B symptoms Pruritus Mediastinal mass Hepato/splenomegaly
197
What might be seen on blood tests of someone with Hodgkin's lymphoma
Normocytic anaemia Eosinophilia Thrombosytosis ESR raised LDH raised
198
What is the diagnostic investigation and result for Hodgkin's lymphoma
Lymph node biopsy with evidence of Reed-Sternberg cells Staging scans like CT and PET scans
199
What are Reed-Sternberg cells and how do they appear on histology
Large cells that are either multinucelated or have a bilobed nucleus with prominent eosinophilic inclusion-like nucleoli-> 'owl's eye appearance'
200
Name some factors associated with poor prognosis in Hodgkin's lymphoma
Presence of B sx >45yrs Stage 4 Hb <10.5 g/dl Lymphocyte count <600/8% Male Albumin <40g/l WCC >15000
201
What are lacunar cells associated with?
Nodular sclerosing Hodgkin's lymphoma
202
How is Hodgkin's lymphoma managed?
Chemo therapy-ABVD (doxurubicin, bleomycin, vinblastine, dacarbazine Radiotherapy Stem cell transplant for replases or refractory
203
What is hypercalcaemia of malignancy
Adjusted serum calcium >2.6mmol/L Affects 10-20% of advanced cancer patients
204
Describe the aetiology of hypercalcaemia of malignancy
PTH related protein-most common, associated with : -renal/ovarian/endometrial/SCC cancers 0Osteolytic metastases (from breast, multiple myeloma) -Calcitriol secretion (lymphomas)
205
Describe the sx of hypercalcaemia of malignancy
Confusion Nausea Vomiting Fatigue Thirst Polyuria Constipation Anorexia Bone pain Abdo pain Renal colic
206
Describe the signs of hypercalcaemia of malignancy
Dehydration Hyporeflexia Tongue fasciculations Abdominal distention Bony tenderness
207
How is hypercalcaemia of malginancy managed?
Rehydration-IV fluids, 3L/24 hours Bisphosphonates-IV alendronic acid or pamidronate
208
Describe the complications of hypercalcaemia of malignancy
AKI Acute pancreatitis Cardiac arrhythmias Seizures Coma Poor prognosis
209
What is the difference between acute leukamia and chronic leukaemia
Acute: Impaired cell differentiation-> large numbers of malignant precursor cells in bone marrow Chronic: excess proliferation of mature malignant cells but cell differentiation is unaffected
210
What is the difference between myeloid leukaemia and lymphocytic leukaemia
Myeloid: myeloid precursor cell like the cells that produce neutrophils Lymphocytic: lymphoid precursors like a B/T cell
211
What is acute lymphoblastic leukaemia?
Uncontrolled proliferation of immature lymphoid precursor cells within the bone marrow-> bone marrow failure and increased presence of lymphoblasts in peripheral blood
212
What ages does ALL affect?
Children: peak incidence 2-5 years
213
Name some risk factors for ALLA
Genetic syndromes: Down's, Klinefelter's, Fanconi anaemia Exposure to ionising radiation
214
Describe the presentation of a patient with ALL
Bone marrow failure related: -Anaemia: lethargy and pallor -Neutropenia: frequent/severe infections -Thrombocytopenia: easy bruising, petechiae Others: -Bone pain -Hepatosplenomegaly -Fever -Testicular swelling
215
Name some poor prognostic factors for ALL
Age <2yrs or >10yrs WBC >20 T or B cell surface markers Non-white ethnicity Male sex
216
How is ALL diagnosed?
FBC: leucocytosis, anaemia, thrombocytopenia Bone marrow biopsy-> diagnostic LP for CNS involvement
217
What features in a child/young person warrant immediate specialist assessment for leukaemia
Unexplained petechiae or hepatosplenomegaly Urgent FBC within 48 hours if: -Pallor -Persistent fatigue -unexplained fever -unexplained persistent or recurrent infection -Generalised lymphadenopathy -unexplained bleeding -unexplained petechiae -Hepatosplenomegaly
218
Describe the management of ALLA
Chemotherapy Induction, consolidation and maintenance regimes
219
Name some complications of ALL
Infections Bleeding CNS involvement Chemo related
220
What is acute myeloid leukaemia
Haematological malignancy characterised by uncontrolled proliferation of myeloid precursors in bone marrow, leading ot bone marrow failure and accumulation of immature white blood cells in peripheral bloos
221
What are blast cells
Immature white blood cells
222
What age group does AML affect
Adults, older individuals
223
What can AML arise from?
Secondary transformation of a myelodysplastic or myeloproliferative disorder
224
What are the poor prognostic factors for AML
>60 years Failure to achieve remission aftet 1st course of chemo Adverse cytogenics: deletions of chromosomes 5 or 7
225
How is AML diagnosed?
Bloods: leucocytosis Blood film: blast cells Bone marrow biopsy-diagnostic: >50% blasts, sometimes Auer rods
226
Describe the features of acute promyelocytic leukaemia
associated with t(15:17) Younger age Auer rods DIC and severe thrombocytopenia
227
Describe the management of AML
Chemo Bone marrow transplant APML-treat with vitamin A analogue-all-trans retinoic acid
228
What is chronic myeloid leukaemia?
Myeloproliferative neoplasm characterised by the presence of the Philadelphia chromosome
229
What age group does CML most commonly affect?
Middle aged patients-60-70 years
230
What causes the Philadelphia chromosome and how does this cause pathology
Translocation between the long arm of chromosome 9 and 22-t(9:22)-> part of ABL proto-oncogene from chromosome 9 being fused with BCR gene from chromosome 22-> BCR-ABL gene-> fused protein that has excess tyrosine kinase activity
231
How do patient with CML typically present
Anaemia Weight loss and sweating Aplenomegaly-> abdo discomfort Increase in granulocytes at different stage of maturation +/- thrombocytosis Decreased leukocyte alkaline phosphatase May undergo blast transformation
232
What are the sx of hyperleukocytosis?
Visual disturbance Confusion Priapism Deafness
233
Describe the management of CML
Imatinib 1st line: tyrosine kinase inhibitor Hydroxyurea Interferon alpha
234
What is chronic lymphocytic leukaemia?
Haematological malignancy characterised by accumulation of mature monoclonal B lymphocytes in blood, bone marrow and lymphoid tissue
235
What age group does CLL most commonly affect
Men >60yrs
236
Describe the presentation of CLL
Often picked up on incidental finding of lymphocytosis Non-tender symmetrical lymphadenopathy Hepatosplenomegaly B sx-weight loss, night sweats, fever
237
How is CML diagnosed?
Bloods: incidental lymphocytosis Blood film: smudge cells Immuophenotyping: CD5, CD19, CD20 and CD23 Bone marrow biopsy
238
What staging system is used in CML
Binet's system
239
What is a key complication of CML
Richter transformation-> CLL transforms to high grade lymphoma with poor prognosis
240
What are myelodysplastic syndromes?
Spectrum where bone marrow fails to produce normal and functional blood cells Often precurosor to AML
241
What age is usually affected by myelodysplastic disorders?
Older adults: 70-75 years
242
Describe the aetiology and pathophysiology of myelodysplastic syndromes
Genetic mutations in haematopoietic stem cells 90% primary, 10% secondary to chemo/radiation Ineffective haematopoiesis
243
How might patients with myelodysplastic syndromes present?
Related to underlying cytopenias Fatigue, weakness, pallor-> anaemia Recurrent infections-> neutropenia Easy bruising/bleeding due to thrombocytopenia Asx-diagnosed on routine blood tests
244
What would you see on a blood film in myelodysplastic syndromes
Howell-Jolly bodies
245
Describe the management of myelodysplastic syndromes
Supportive: blood transfusions, growth factors Immunosuppression Stem cell transplant
246
What are the complications of myelodysplastic syndromes?
Transformation to acute leukaemia Severe infections Progression to more advanced MDS subtypes Reduced QOL
247
What is immune thrombocytopeic purpura (ITP)
Autoimmune condition characterised by a reduction in number of circulating platelets
248
What type fo hypersensitivity reaction is ITP
Type 2
249
How does ITP present in children?
Seld limiting disease afer a viral infection
250
Describe the epidemiology of ITP in adults
More common in older females
251
What are some causes of secondary ITP in children
AI conditions like SLE Infections-H pylori and CMV Medications Lymphoproliferative disorders
252
How does ITP differ in adults and children?
Children generally self-limiting Adults-more chronic
253
Describe the pathophysiology of ITP
Type 2 hypersensitivity reaction where the spleen produces antibodies directed against glycoprotein 2b/3a or 1b-V-9 complexes
254
How does ITP present
May be incidental in routine bloods If sx: -Petechiae, purpura -Bleeding like epistaxis -Blood in urine/stools -Unusually heavy menstrual flow
255
How is ITP diagnosed?
FBC: isolated thrombocytopenia Blood film Bone marrow biopsy only if suspicion of malignancy
256
Describe the management of ITP
Watch and wait 1st line: prednisolone IVIG may be used in active bleeding TXA can be used for menorrhagia
257
What medication should be avoided in children with ITP
Ibuprofen
258
What is Evan's syndrome?
ITP in association with autoimmune haemolytic anaemia
259
Name some complications of ITP
Significant bkeeds Intracranial haemorrhage
260
Describe the pathophysiology of TTP
Abnormally large and sticky von Willebrand factor cause platelets to clump within vessels Deficiency of ADAMTS13 enzyme which breaks fown large multimers of vWF Leads to platelet aggregation, thrombus formation and systemic microangiopathy
261
What are the causes of TTP
Post infection-urinary, GI Pregnancy Drugs: ciclosporing, COCP, penicillin, clopidogrel, aciclovir Tumours SLE HIV
262
What age and gender is usually impacted by TPP
Adult females
263
Describe the clinical presentation of TTP
Pentad: -Fever -Microangiopathic haemolytic anaemia -Thrombocytopaenia purpura -CNS involvement: headache, confusion, seizures -AKI
264
How is TPP investigated/diagnosed?
FBC: normocytic anaemia (haemolysis), thrombocytopenia Raised urea and creatinine Clotting normal Blood film: reticulocytes and schistocytes Low ADAMTS13 activity-diagnostic
265
How is TTP managed?
Plasma exchange High dose steroids, low dose aspirin, rituximab
266
What is the triad of haemolytic uraemic syndrome
Microangiopathic haemolytic anaemia Thrombocytopenia AKI
267
What age group is HUS most commonly seen in?
Young children: 6 months to 5 years
268
Name the causes of HUS
Primary-atypical-complement dysregulation Secondary-typical: -Shiga toxin producing E Coli (STEC) Pneumococcal infection HIV Rare: SLE, drugs, cancer
269
How does shiga toxin producing E-Coli result in HUS
Infected via faecal oral route Incubation period of 2-5 days-> profuse diarrhoea that becomes bloody HUS 3-14 days post diarrhoea Shiga toxin triggers inflammatory cytokine release, activates complement system and directly toxic to endothelium Endothelial damage-> microvascular thrombosis which consumes platelets causing thrombocytopenia RBC sheared passing through thrombosed vessels-> intravascular haemolysis, especially affects kidneys
270
How do patients with HUS typically present
Profuse diarrhoea-> bloody Oliguria Fatigue fevers Chest pain SOB Headache Signs: Pallor Peripheral oedema Tachypnoea Signs of dehydratin Hypotension and tachycardia Hypertension from renal impairment Abdo tenderness Petechiae Altered consciousness
271
Name some differentials for HUS
TTP-usually adult women and no infection trigger DIC-abnormal coagulation screen
272
How is HUS investigated/diagnosed?
Blood film: MAHA (Coombs negative haemolysis) from intravascular RBC fragmentation-> schistocytes Anaemia Thrombocytopenia AKI Stool cultures for STEC infection
273
Describe the management of HUS
A-E approach with fluids, blood transfusions and dialysios if needed Plasma exchange if severe and no diarrhoea Eculizumab (C5 inhibitor monoclonal antibody)
274
Name some complications of HUS
Hyperkalaemia Chronic renal impairment Cerebral oedema Seizures Stroke Colitis-> perforation Pancreatitis MI Myocarditis Congestive heart failure
275
What tumour marker is useful for medullary thyroid cancer
Calcitonin
276
What tumour marker is useful for monitoring disease rpogression in breast cancet
CA 15-3
277
What is the most common form of brain tumour?
Brain metastases
278
What are the cancers that commonly spread to the brain
Lung-most common Breast Bowel Skin-melanoma Kidney
279
What is the best and inital imaging for brain mets?
MRI
280
What is the most common primary brain tumour in adults?
Glioblastoma multiforme
281
What si the prognosis of gliobastoma mutliforme?
Poor-1yea
282
How does glioblastoma appear on imaging?
Solid tumours with central necrosis and a rim that enhances with contrast
283
What pathology is glioblastoma multiforme associated with and why?
Vasogenic oedema-> disrupts the blood brain barrier
284
How is glioblastoma multiforme treated?
Surgery, pos op chemo/radiotherapy Dexamethasone for oedema
285
What is a meningioma?
Typically benign, extrinsic tumours of the CNS Arise from arachnoid cap cells of meninges, typicaly located next to the dura and cause sx by compression not invasion
286
Where are meningiomas typically located
Falx cerebri Superior sagittal sinus Skull base
287
What would you see on histology of a meningioma
Soindle cells in concentric whirls and calcified psammoma bodies
288
How is meningioma diagnosed and treated?
CT-contrast enhancement and MRI Tx: observation, radiotherapy or surgical resection
289
What si a vestibular schwannoma
Benign tumour arising from the 8th cranial nerve, often seen in vestibulochochlear angle
290
How does vestibular schwannoma present?
Hearing loss Facial nerve palsy Tinnitus
291
What condition is associated with vestibular schwannoma
NFtype 2
292
What is seen on histology of a vestibular schwannoma
Antoni A or B patterns Verocay bodies
293
How is vestibular schwannoma treated?
Observation Radiotherapy Surgery
294
What is the most common primary brain tumour in chidlren
Pilocytic astrocytoma
295
What would you see on histology in a pilocytic astrocytoma
Rosenthal fibres (Corkscrew eosinophilic bundles)
296
Where do you typically see an ependymoma and what can it cause?
4th ventricle Cause of hydrocephalus
296
What is a medulloblastoma and how is it treated?
Aggressive paediatric brain tumour that arises in the infratentorial compartment and spreads through CSF system Tx: surgical resecito nand che,p
297
What does MCV refer to
Size of red blood cells
298
What are the causes of microcytic anaemia?
TAILS Thalassaemia Anaemia of chronic disease Iron deficiency Lead poisoning Sideroblastic
299
What are the causes of normocytic anaemia
3A's and 2Hs Acute blood loss Anaemia of chronic disease Aplastic anaemia Haemolytic anaemia Hypothyroidism
300
What does anaemia of chronic disease often occur with and why?
CKD Reduced production of EPO by kidneys-> responsible for stimulating RBC production
301
What makes macrocytic anaemia megaloblastic?
Impaired DNA synthesis, preventing cells for dividing normally
302
What are the causes of megaloblastic anaemia?
B12 deficiency Folate deficiency
303
What are the causes of normoblastic macrocytic anaemia
Alcohol Reticulocytosis-> haemolytic anaemia or blood loss Hypothyroidism Liver disease Drugs like azathioprine Myelodysplasia Pregnancy
304
When wouldyou see reticuloyctosis
Rapid turnover of RBC like in haemolytic anaemia or blood loss
305
What are the generic sx of anaemia
Tiredeness SOB Headaches Dizziness Palpitations Worsenign of other conditions like anginga, heart failure, PAD
306
Name some sx specific to iron deficiency anaemia
Pica-craving things like dirt or soil Hair loss
307
What are some generic signs of anaemia
Pale skin Conjunctival pallor Tachycardia Raised resp rate
308
What are some specific signs of iron deficiency anaemia
Koilonychia-spoon shaped nails Angular cheilitis Atrophic glossitis (smooth tongue) Brittle hair and nails
309
What is a sign of haemolytic anaemia?
Jaundice
310
What are some signs that anaemia might be associated with CKD
Oedema Hypertension Excoriation
311
What specific test might be done for autoimmune haemolytic anaemia
Direct Coombs
312
In a patient with microcytic anaemia, what would low serum ferritin indicate?
Iron deficiency anaemia
313
In a patient with microcytic anaemia, normal/high ferritin, what would a low TIBC indicate?
Anaemia of chronic disease
314
In a patient with microcytic anaemia, normal/high ferritin, what would a high/normal TIBC indicate?
Lead poisoning Thalassaemia]Sideroblastic
315
In a patient with normocytic anaemia, what would a normal/high reticulocyte count indicate?
Acute blood loss Haemolysis Splenic sequestration (RBC stuck in spleen)
316
In a patient with normocytic anaemia, low reticulocytes, what would low WBC/platelets indicate?
Bone marrow failure -Aplastic anaemia -Leukaemia
317
In a patient with normocytic anaemia, low reticulocytes, what would high/normal WBC/platelets indicate?
Chronic inflammation Chronic infection Malignancy CKD
318
What further testing would you do for a patient with macrocytic anaemia?
B12 and folate
319
In a patient with macrocytic anaemia and normal B12/folate, what might the causes of anaemia be?
Heaptic disease Drug induced Hypothyroidism Reticulocytosis
320
What is pernicious anaemia?
AI disorder affecting the gastric mucosa that results in B12 deficiency
321
What are some causes of B12 deficiency?
Pernicious anaemia Atrophic gastritis-H-pylori Gastrectomy Malnutrition Alcoholism
322
Describe the pathophysiology of pernicious anaemia
Antibodies to intrinsic factor +/- gastric parietal cells -Intrinsic factor abs-> bind to intrinsic factor blockign B12 binding site -Gastric parietal cell abs-> reduced acid production and atrophic gastritis-> reduced intrinsic factor production and reduced B12 absorption
323
What is B12 important for?
Production of blood cells and myelination of nerves-> megaloblastic anaemia and neuropathy
324
Name some risk factors for pernicious anaemia
Females Middle-old age AI disorders Blood group A
325
Describe the signs and symptoms of pernicious anaemia
Anaemia sx Neurological sx: -Peripheral neuropathy-symmetrically in legs more than arms -Subacute combined degeneration of the spinal cord Neuropsych features like memory loss, confusion Atrophic gastritis
326
What are the symptoms of subacute combined degeneration of the spinal cord
Progressive weakness, ataxia and paraesthesias that may progress to spasticity and paraplegia
327
How is pernicious anaemia diagnosed?
Macrocytic anaemia Low B12 levels Antibodies-> anti intrinsic factor antibodies-high specificity and low sensitivity Parietal cell antibodies-sensitive but not specific
328
How is pernicious anaemia managed?
Vit B12 replacement(hydroxycabalamin), usually IM No neuro features-> 3 injections/week for 2 weeks then 3 monthly treatments
329
Name some complications of pernicious anaemia
Increased risk of gastric cancer Neuro: peripheral neuropathy, subacute combined degeneration of spinal cord, dementia
330
Name some causes of iron deficiency anaemia
Excessive blood loss e.g. menorrhagia, GI bleeding Inadequate dietary intake Poor intestinal absorption like coeliac Increased iron requirements e.g children, pregnancy
331
What will a blood film of someone with iron deficiency anaemia show?
Hypochromic, microcytic red cells Penicl cells Target cells
332
What will serum ferritin, TIBC, transferrin and transferrin saturation index be in iron deficiency anaemia?
Serum ferritin usually low (unless inflammation) TIBC and transferrin high Transferrin saturation index low
333
What should unexplained iron deficiency anaemia prompt in males and post menopausal women
GI investigations-> endoscopy If #<10/11 refer to gastro within 2 weeks
334
Describe the management of iron deficiency anaemia
ID underlying cause and manage Oral ferrous sulphate-> continue taking for 3 months after deficiency corrected Irom rich diet-> dark green leafy veg, meat, iron fortified bread
335
Name some side effects of ferrous sulfate
Diarrhoea Constipation Black stools Abdo pain Nausea
336
What will serum iron, TIBC, transferring saturation and ferritin be in anaemia of chronic disease?
Serum iron: low TIBC: low Transferrin saturation: low Ferritin: high
337
What anaemia is typically associated with CKD
Normochromic normocytic
338
What eGFR level would you expect to result in an anaemia
<35ml/min
339
What causes anaemia in renal failure
Reduced EPO Reduced absorption of iron (hepcidin increased due to inflammation-> decreased iron absorption from gut and impaired release)
340
How is CKD anaemia treated?
1) Oral iron Erythropoiesis-stimulating agents, often IV iron required too
341
What are the general features of haemolytic anaemia on investigation?
Anaemia Reticulocytosis Low haptoglobin Raised LDH and indirect bilirubin Blood film: spherocytes and reticulocytes
342
What is the specific test for autoimmune haemolytic anaemia?
Positive direct antiglobulin test (Coomb's)
343
What are the 2 types of autoimmune haemolytic anaemia?
Warm-mc Cold
344
What is warm autoimmune haemolytic anaemia
Antiboddy (IgG) causes haemolysis best at body temp, so haemolysis occurs in extravascular sites like the spleen
345
What are the causes of warm autoimmune haemolytic anaemia
Idiopathic AI diseases like lupus Neoplasia: lymphoma, CLL Drugs like methyldopa
346
How is warm autoimmune haemolytic anaemia treated?
Treat underlying disorder Steroids +/- rituximab
347
What is cold autoimmune haemolytic anaemia
IgM antibody causes haemolysis best at 4 degrees. haemolysis more commonly intravascular
348
What are some causes of cold autoimmune haemolytic anaemia
Neiplasia like lymphoma Infections like mycoplasma, EBV
349
What are some features of cold autoimmune haemolytic anaemia
Raynaud's Acrocyanosis
350
When are pregnant women screened for anaemia
Booking visit (8-10 weeks) 28 weeks
351
What are the Hb cut offs for treatment of anaemia in pregnant women?
1st trimester: <110 g/L 2nd/3rd trimester: <105 Postpartum: <100
352
How is anaemia in pregnancy treated?
Oral ferrous sulfate or ferrous fumarate-> continue for 3 months after iron deficiency corrected
353
What is thalassaemia?
Group of inherited disorders-> abnormal Hb production
354
What is alpha thalassaemia?
Deficiency of alpha chains in haemoglobin
355
What is the inheritance of alpha thalassaemia
Autosomal recessive
356
Describe the pathophysiology of apha thalassaemia
Non-functioning copies of the four alpha globin genes on chromosome 16 Sx arise when >=2 copis of gene are lost
357
Describe the picture in alpha thalassaemia trait (2 copies lost)
Mild asx anaemia-hypochromic and microcytic Hb usually normal
358
Describe the picture when there are 3 defective copies of alpha chains in thalassaemia
Hb H disease Symptomatic hypochromic microcytic anaemia with splenomegaly
359
Describe the picture when there are 4 defective copies of alpha chains in thalassaemia
Death in utero-> hydrops fetalis
360
What is the inheritance of beta thalassaemia
Autosomal recessive
361
What is beta thalassaemia minor/trait
Mildest variant Usually one functioning and one dysfunctional copy of beta globin gene
362
Describe the picture of a patient with beta thalassaemia trait
Usuallya sx Mild hypochromic, microcytic anaemia
363
What is important for patients with beta thalassaemia trait to know?
Geenetic counselling-> 2 carriers have a risk of having a child with beta thalassaemia major
364
What is beta thalassamia major?
Complete absence of beta globin chains Mutation located on chromosome 11
365
How do patients present with beta thalassaemia major?
Usually 1st year of life with failure to thrive and hepatosplenomegaly Severe transfusion dependent microcytic anaemia Extramedullary haematopoesis-> -frontal bossing(hair on end appearance on x-ray) Maxillary overgrowth and prominent frontal/parietal bones -chipmunk facies
366
Describe the levels of HbF, HbA2 and HbA in beta thalassaemia major
HbF very raised HbA2 may be raised HbA absent
367
Why does beta thalassaemia present at 3-9 months of age?
Becomes evident when HbF levels (no Beta globin_ fall and should be replaced by HbA (made of 2 alpha and 2 berta globin chains)
368
How is beta thalassaemia minor diagnosed?
Diagnostic: Hb electrophoresis shows raised HbA2
369
How can iron deficiency anaemia be distinguished from beta thalassaema using ferritin?
Ferritin in beta thalassaemia minor usually normal/high
370
How is beta thalassaemia major diagnosed?
Diagnostic: Hb electrophoresis shows mainly HbF
371
How is beta thalassaemia treated
Regular lieflong blood transfusions-> improves anaemia and growth Allogeneic stem cell/bone marrow transplant Ongoing monitoring
372
What is the main problem with beta thalassaemia treatment and how is this mitigated?
Iron overload-> risk of cardiac, hepatic and endocrine organ failure Iron chelation therapy essential with desferrioxamine
373
What is sickle cell disease
Autosomal recessive condition where normal Hb tends to form abnormal Hb (HbS) upon deoxygenation leading to distortion of RBC's
374
Who is sickle cell anaemia most common in and why?
People of African descent-> heterozygous condiiton offers protection against malaria
375
When are people who are carriers of HbS (heterozygous for sickle cell) symptomatic?
If severely hypoxic
376
When do symptoms in people homoxygous for sickle cell present
4-6 months When abnormal HbSS molecules take over from HbF
377
Describe the pathophysiology of sickle cell
Normal Hb: HbAA Sickle cell trait: HbAS Homozygous sickle cell: HbSS Glutamate substituted by valine in each of the 2 beta chains whcih decreases water solubility Deoxygenated: HbS molecules polymerise and cause RBCs to sickle Sickle cells fragile and haemolyse-> block small vessels and cause infarction
378
What are some findings of sickle cell on a blood film
Sickle cells Target cells Reticuloytosis with polycharsmia Functional hyposplenism like Howell-Jolly bodies and nucelated RBCs
379
How is sickle cell diagnosed?
Hb electrophoresis
380
How might patients with sickle cell present?
Vaso-occlusive crises-> mc Acute chest crisis Haemolytic anaemia Splenic infarction Sequestration crisis Retinal disorders Osteomyelitis Poor growth Gallstones Priapism Iron overload Red cell aplasia
381
What is a vaso-occlusive crisis?
Mc acute presentation of sickle cell Microvascular obstruction due to RBC sickling and inflammation May be triggered by local hypoxia like in cold weather
382
How does an acute chest crisis present?
Tachypnoea Wheeze Cough Hypoxia and pulmonary infiltrated on CXR
383
How is a sickle cell crisis managed?
Analgesia-opiates Rehydration Oxygen Abx if infection Blood transfusion Exchange transfucion-> neurological complications
384
Describe the long term manafement of sickle cell
Hydroxyurea-> increases HbF levels used as prophylaxis Pneumococcal vaccine every 5 years
385
What is haemochromatosis?
Genetic disorder of iron metabolism
386
What inheritance is haemochromatosis
Autosomal recessive
387
Describe the pathophysiology of haemochromatosis
Autosomal recessive disorder mutations in the HFE gene on both copies of chromosome 6-> iron accumulation
388
Describe the presentation of haemochromatosis
Early: fatigue, erectile dysfunction, arthralgia-hands Bronze skin pigmentation T2DM Liver: hepatomegaly, cirrhosis Hypogonadotrophic hypogonadism-> cirrhosis and pituitary dysfunction
389
What are the reversible complications of haemochromatosis
Cardiomyopathy Skin pigmentation
390
What are the irreversible complications of haemochromatosis
liver cirrhosis Diabetes Hypogonadotrophic hypogonadism Arthropathy
391
How is haemochromatosis diagnosed?
Iron studies: raised transferrin saturation index, raised ferritin, raised iron, low TIBC Genetic testing for HFE mutation LFT;s MRI for liver and cardiac iron
392
Describe the management of haemochromatosis
1)Venesection-transferrin saturation <50% and serum ferritin <50 2)Desferrioxamine-iron chelating agent Avoid undercooked seafood-listeria
393
What are the immediate transfusion reactions/acute
Occur within 24 hours post transfusion: Haemolytic transfusion reactions-mismatched blood types Allergic reactions Febrile non-haemolytic transfusion reaction Circulatory overload (TACO) Sepsis
394
Describe the features and treatment for allergic reaction to transfusion
Urticaria, angioedema, anaphylaxis Management: Stop transfusion, give saline, adrenaline if anaphylaxis, chlorphenamine, hydrocortisone
395
Describe the features and treatment for acute haemolytic transfusion reaction
Mismatched blood types-> destruction of transfused red cells Fever, hypotension, anxiety, DIC Management: Stop transfusion, give saline, treat DIC
396
Describe the features and treatment for febrile non-haemolytic transfusion reaction
Response to cytokines or leukocytes in donor blood-> fever, rigors/chills Management: -Slow transfusion -Give paracetamol
397
Describe the features and treatment for transfusion-related acute lung injury
Pulmonary oedema and can cause ARDS Management: stop transfusion, give saline, treat ARDS
398
Describe the features and treatment for transfusion associated circulatory overload (TACO)
Volume of perfused blood exceeds circulatory system's capacity-> pulmonary oedema Fluid overload sx Management: -Slow transfusion -Give furosemide
399
What are the delayed transfusion reactions ?
Occur >24 hours post-transfusion Delayed haemolytic transfusion reaction Graft vs host disease Iron overload Post transfusion purpura
400
Describe the features and treatment for delayed haemolytic transfusion reaction
Exaggerated response to a foreign red cell antigen previously exposed to Jaundice, anaemia, fever usually 5 days post transfusion
401
Describe the features of transfusion associated graft vs host disease
Donor blood lymphocytes attack recipients body-> rare but high mortality
402
Describe the features and treatment for iron overload from transfusion
Repeated transfusions-> deposition of iron in tissues and organs Sc desferrioxamine
403
What is tumour lysis syndrome?
Metabolic disorder caused by rapid death of tumour cells in response to chemo-> release of intracellular contents into bloodstream-> electrolyte imbalances Related to treatment of high grade lymphomas and leukaemias
404
When should tumour lysis syndrome be suspected?
Any patient with AKI in the presence of high phosphate and high uric acid level
405
What electrolyte imbalances do you get in tumour lysis syndrome?
Hyperuricaemia Hyperphosphotaemia Hyperkalaemia Hypocalcaemia
406
What grading system is used for tumour lysis syndrome
Cairo-Bishop score
407
Aside from electrolyte abnormalities what are the clinical features of tumour lysis syndrome
Increased serum creatinine Cardiac arrhythmia/sudden death Seizures
408
Describe the management of tumour lysis syndrome
Correct electrolyte imbalances Hyperkalaemia-> calcium gluconate, insulin-dextrose, nebulised salbutamol IV fluids Dialysis
409
How is tumour lysis syndrome prevented?
IV fluids High risk-> give allopurinol or rasburicase /(not together)
410
What is G6PD deficiency
X-linked recessive red cell enzyme disorder
411
How might G6PD deficiency present
Neonatal period with jaundice Later in life with episodic intravascular haemolysis post exposure to oxidative stressor
412
What is G6PD involved in?
Pentose phosphate shunt-> important for maintaining integrity of RBC membrane and helps to protect red cells against oxidative damage
413
What does it mean clinically that G6PD deficiency is X0linked
Males affected and females carriers
414
What are the triggers for G6PD deficiency
Illness/infection Fava beans Henna Medicatons (nitrofurantoin, NSAIDs, aspirin)
415
What do you see on a blood film in G6PD deficiency
Heinz bodies Red cell fragmentation and bite cells Spherocytosis and reticulocytosis
416
How is G6PD deficiency diagnosed?
G6PD enzyme assay-check 3 months after acute episode of haemolysis Coombs negative
417
Describe the management of G6PD deficiency
Supportive Avoid precipitants Maintain hydration Blood transfusions (rare)
418
What groups of people is G6PD deficiency mose common in?
Mediterranean African
419
What is hereditary spherocytosis
Autosomal dominant condition in northern European populations causing hereditary haemolytic anaemia
420
Describe the pathophysiology of hereditary spherocytosis
Mutations in structural red cell membrane proteins-> replaces normal biconcave disc shape with sphere shape RBC survival reduced as they are destroyed by spleen
421
Describe the presentation of hereditary spherocytosis
Failure to thrive Jaundice, gallstones Splenomegaly Aplastic crisis precipitated by parvovirus infection High MCHC
422
How is hereditary spherocytosis diagnosed?
-Positive family history -Spherocytes on blood film -haemolysis that is Coombs negative Additional: EMA binding test and cryohaemolysis test
423
Describe the management of hereditary spherocytosis
Acute haemolytic crisis: supportive treatment and transfusion if severe Long term: folate replacement, splenectomy
424
What is pyruvate kinase deficiency
Autosomal recessive condition leading to a chronic haemolytic anaemia-> unstable RBC enzymes and reduced ATP production
425
How would you diagnose pyruvate kinase deficiency
Blood film: echinocytes or burr cell projections on red cells Reticulocytosis and anaemia LDH high, haptoglobin low Coombs negative Definitive: assay pyruvate kinase levels
426
Describe the clinical features of pyruvate kinase deficiency
Jaundice Gallstones-increased unconjugated bilirubin BM expansion
427
How is pyruvate kinase deficiency managed?
Supportive Splenectomy if severe
428
What is tumour marker CA125 used for?
Ovarian cancer
429
What is tumour marker CA19-9 used for?
Pancreatic cancer
430
What is tumour marker CA15-3 used for?
Breast cancer
431
What is tumour marker PSA used for?
Prstatic carcinoma
432
What is tumour marker AFP used for
Hepatocellular carcinoma Teratoma
433
What is tumour marker CEA used for?
Colorectal cancer
434
What is tumour marker S-100 used for?
Melanoma Schwannomas
435
What is tumour marker bombesin used for?
SCLC Gastric cancer Neuroblastoma
436
What is neutropenic sepsis
Usuall post chemo 7-14 days Neutrophil count <0.5 and: 1)temp >38 degrees or 2) other signs/sx consistent with sepsis
437
What is the most common organism that causes neurtopenic sepsis
Coagulase negative, Gram positive bacteria Especially Staph epidermidis (probably due to indwelling lines)
438
What prophylaxis is used for neutropenic sepsis
Fluoroquinolone-used if expected neutrophil count <0.5
439
Describe the management of neutropenic sepsis
ABCDE approach Abx started immediately-don;t wait for WCC Empirical: piperacillin with tazobactam (tazocin) If still febrile after 48 hours can prescribe additional like meropenem or vanc If not responding after 4-6 days: fungal infection investigations
440
What are some causes of hyposplenism
Splenectomy Sickle cell Coelica disease Graves SLE Amyloid
441
Describe the features of hyposplenism
Howel-Jolly bodies Siderocytes
442
How is hyposplenism managed?
Prevent infections/complications -Immunisations Abx prophylaxis Patient education Monitor for thromboembolic complications
443
What is pancytopenia
Reduced counts of all 3 major cellular components of bloods (erythrocytes, leukocytes and thrombocytes), often manifestation of bone marrow failure
444
Describe the causes of pancytopenia
Decreased production: marrow infiltration (leukaemia, lymphoma, MDS, multiple myeloma etc) Aplastic anaemia Nutritional deficiencies Increased destruction/sequestration: Hypersplenism Peripheral dilution e.g overhydration or post large volumes of IV fluids
445
What is polycythaemia?
Increase in haematocrit, red cell count and Hb concentration
446
What are the different kinds of polycythaemia
Relative Primary Secondary
447
What is relative polycythaemia and what are the causes?
Hb elevated secondary to low plasma volume rather than increased number of red cells -Dehydration -Stress; Gaisbock syndrome
448
What is primary polycythemia?
Polycythaemia rubra vera-myeloproliferative disorder
449
What is secondary polycythaemia and what are the causes?
Excess RBC production driven by excess EPO Causes: -COPD Altitude -OSA -Excess EPO: uterine fibroids, cerebellar haemangioma
450
How is polycythaemia managed?
Treat underlying cause Venesection can be used
451
What is polycythemia vera?
Myeloproliferative disorder caused by clonal proliferation of a marrow stem cell-> increase in red cell volume
452
What mutation is often present in polycythaemia vera?
JAK2
453
At what age does incidence of polycythaemia peak?
6th decade
454
Describe the features of polycythaemia vera?
Pruritus, typically post hot bath Splenomegaly Hypertension Hypeviscosity-> arterial/venous thrombosis Haemorrhage-abnormal platelet function Low ESR
455
How is polycythaemia vera investigated?
FBC/film JAK2 mutation Serum ferritin Renal/liver function tests Can be classified as JAK2 positive or negative with different criteria for each
456
What are the 2 types of heparin
Unfractionates Low molecular weight
457
How does heparin generally work
Activates antithrombin 3
458
How does unfractioned heparin work
Forms a complex which inhibits thrombin, factors 10a, 9a, 11a and 12a
459
How does LMWH work
Increases action of antithrombin 3 on factor 10a
460
What are the adverse effects of heparins
Bleeding Thrombocytopenia Osteoporosis and increased fracture risk Hyperkalaemia
461
What are the differences in administration and duration of action in standard heparin and LMWH
Standard: IV, short duration LMWH: SC, long duration
462
What monitoring is used in standard and LMWH
Standard: APTT LMWH: anti-factor 10a-no monitoring required
463
What situation is standard heparin useful for?
High risk of bleeding as anticoagulation can be terminated rapidly Also useful in renal dialure
464
What situation is LMWH useful for?
VTE treatment and prophylaxis and ACS
465
When are DOACs used?
DVT/PE treatment VTE prevention following hip or knee surgery Stroke prevention in non-valvular AF
466
When is warfarin used?
Mechanical heart valve replacement Bioprosthetic heart valve (3 months) APS DVT/PE Stroe prevention in AF whgen DOACs are contraindicated (mechanical heart valves, mitral stenosis, APS, severe renal impairment, breastfeeding)
467
When would LMWH be 1st line?
Pregnancy-DOAC and warfarin contraindicated
468
What is heparin induce thrombocytopenia
Immune-mediated adverse reaction to heparin causing thrombocytopenia and paradoxical thrombosis
469
Describe the pathophysiology of heparin-induced thrombocytopenia
IgG antibodies form against platelet factor 4 heparin compleces Antibodies binding activates platelets-> thrombosis and platelet consumption
470
What are the types of heparin-induced thrombocytopenia
Type 1: mils, non immune, early (1-2 days), transient, not clinically significant Type 2: immune mediated, 5-14 days post exposure, associated with thrombosis
471
What are the clinical features of heparin induced thrombocytopenia
Platelet count fall>5-% from baseline 5-14 days post heparin Venous and arterial thromboses (DVT, PE, limb ischaemia, stroke) Skin necrosis at injection site
472
How is heparin induced thrombocytopenia diagnosed?
4T score to assess probability Confirm with HIT antibody and functional assays
473
Describe the management of heparin induced thrombocytopenia
Stop all heparin immediately Avoid LMWH Start alternative antcoagulatn (direct thrombin inhibitors or DOACs Don't transufe placement unless life threatenign bleeding Document allergy
474
What could you use in heparin overdose?
Protamine sulphate-only partialy reversible
475
What is haemophilia?
X linked recessive disorder of coagulation
476
What is the difference between Haemophila A and B
A: deficiency of factor 8 B: deficiency of factor 9
477
Describe the features of haemophilia
Haemoarthroses haematomas Prolonged bleeding after surgery or trauma
478
What bloods are used to assess for haemophilia
Prolonged APTT Normal bleeding time, thrombin time, prothrombin time
479
How is haemophilia treated?
Factor 8/9 replacement therapy
480
What is an adverse effect of treatment with factor 8
10-15% develop antibodies to it
481
What is von Willebrand's disease
Usually autosomal dominant inherited bleeding disorder-mc
482
What does von willebrand factor do?
Promotes platelet adhesion to damaged endothelium Carrier molecule for factor 8
483
What are the types of vWF
Type 1: partial reduction in vWF Type 2: abnormal form of vWF Type 3: total lack of vWF(autosomal recessive)
484
How is vWF diagnosed?
Prolonged bleeding time APTT may be prolonged Slightly reduced factor 8
485
Describe the management of von willebrand's disease
TXA for mild bleeding Desmopressin-raises levels of vWF by inducing release Factor 8 concentrate
486
What is aplastic anaemia?
Pancytopenia and hypoplastic bone marrow
487
What is teh peak age of aplastic anaemia?
30 years
488
What are the causes of aplsatic anaemia
Idiopathic Congenital: fanconi anaemia Drugs: phenytoin Toxins Infections: parvovirus, hepatitis Radiation
489
Describe the featurs of aplastic anaemia
Normochromic normocytic anaemia Leukopenia with lymphocytes relatively spared Thrombocytopenia May be presenting feature of ALL/AML
490
What vessels are anterior nosebleeds usually from?
Capillaries that form Kiesselbach's plexus
491
Name some causes of epistaxis
-Nose picking/blowing -Trauma to nose, insertion of foreign bodies -Bleeding disorders-ITP Juveniel angiofibroma Cocaine use Hereditary haemorrhagic telangiectasia Granulomatosis with polyangitis
492
How do you manage epistaxis in a haemodynamically stable patient
1) Sit with torso forward and mouth open 2)Pinch cartilaginous (soft) area of nose firmly If it doesn't stop after 10-15 minutes: 3)Cautery 4)Packing if catery not viable or bleeding point can't be visualised 5) Sphenopalatine ligation in theatre as last line
493
When should admission or follow up be considered in cases of epistaxis
Comobidity present like severe hypertension or underlying cause suspected <2yrs-underlying causes like haemophilias or leukaemias more likely Haemodynamically unstable Bleed site cannot be located on speculum
494
What is thrombocytopenia
low platelets
495
Name some causes of thrombocytopenia
Severe: ITP, DIC, TTP, malignancy Moderate: Heparin induced Drug induced Alcohol liver disease Hypersplenism Vital-EBC, HIV Pregnanyc SLE/APS Vitamin B12
496
What is thrombocytosis
Abnormaly hgh platelet count
497
Name some causes of thrombocytosis
Reactive-in response to tress Malignancy Essesntial thrombocytosis or myeloproliferative disorder like CML Hyposplenism
498
What is neutropenia
Low neutrophil counts
499
Name some causes of neutropenia
Viral-HIV, EBV, hep Drugs Haem malignancies Rheumatology: SLE, RA Severe sepsis
500
Final finals!
flashcards
Decks in class (22)
# Cards
Brainscape helps you reach your goals faster, through stronger study habits.
© 2026 Bold Learning Solutions. Terms and Conditions