Which condition causes dysphagia to both solids and liquids from the start?
Achalasia
There is failure of oesophageal peristalsis & of relaxation of lower oesophageal sphincter due to degenerative loss of ganglia from Auerbach’s plexus
What is primary biliary cholangitis?
Autoimmune condition that causes small bile duct obliteration and toxin build up leading to cirrhosis
Is primary biliary cholangitis more common in men or women?
Women
What is the pathophysiology of primary biliary cholangitis?
1) Destruction of interlobular ducts
2) Small duct proliferation
3) Fibrosis
4) Cirrhosis
What are the presenting features of primary biliary cholangitis?
- Can be asymptomatic
- Pruritus
- Cholestatic jaundice
- Xanthelasma
- Clubbing
- Portal HTN
- Diarrhoea
- Lethargy
- Shin pigmentation
- Hepatosplenomegaly
- Osteoporosis/osteomalacia
How do you diagnose primary biliary cholangitis?
- Antimitochondrial antibodies
- Raised ALP
- Raised IgM
- Liver biopsy
What condition is associated with antimitochondrial antibodies?
Primary biliary cholangitis
How do you manage primary biliary cholangitis?
- Cholestyramine for pruritus
- Ursodeoxycholic acid (unclear evidence if slows progression) can be used in combo with obeticholic acid
- Liver transplant
What are the indications for transplant in primary biliary cholangitis?
- Intractable pruritus
- End stage disease
What conditions cause liver disease and joint pain?
HAIL-G
Haemochromatosis
Autoimmune hepatitis
Infection e.g viral hepatitis
Liver alcohol disease
Gout
Which condition causes signet ring cells?
Gastric adenocarcinoma
Which stool test distinguishes between
inflammatory & non-inflammatory bowel
conditions?
Faecal Calprotectin
How is hereditary haemochromatosis inherited?
Autosomal Recessive
What is the gene mutation in hereditary haemochromatosis?
HFE gene
What is the pathophysiology of hereditary haemochromatosis?
Hepatic hepcidin gene expression low which causes ongoing duodenal absorption of iron
In low hepcidin conditions macrophages continuously release iron
High iron levels cause deposition in joints, liver, heart, pancreas, pituitary, adrenals and skin
Iron which is stored as ferritin is deposited in organs as haemosiderin which is toxic to tissue
How does hereditary haemochromatosis present?
Usually asymptomatic until late stage
- Lethargy
- Arthralgia
- Bronzed skin
- Chronic liver disease
- Loss of libido
- Hypogonadism
- Hepatomegaly
How is hereditary haemochromatosis diagnosed?
- Raised transferrin saturations
- Raised ferritin
- HFE geneotype
- Liver biopsy
How do you treat hereditary haemochromatosis?
- Venesection
- Iron chelation
- Diet, avoid vitamin c
- Liver transplant
A 46-year-old man is seen in neurology outpatients after being referred with disinhibited behaviour of 2 months’ duration. His family tells you that he passes urine in public and the police have brought him home on two occasions recently. He has been losing weight for the last year and was previously 110 kg, now weighing 92 kg. He has diarrhoea and his family tell you it smells bad and is difficult to flush. The patient complains of pain in his right knee, left ankle and lower back.
On examination, he looks pale and has angular cheilitis. He has a distended abdomen with some shifting dullness but no palpable organomegaly. His palmo-mental reflex is positive. The right knee and left ankle are both swollen with minimal tenderness and a good range of movement.
Oesophago-gastro-duodenoscopy (OGD) is performed and duodenal biopsy demonstrates expanded villi containing macrophages staining positive with periodic acid–Schiff stain.
What is the most likely diagnosis?
Whipple’s disease
What causes Whipple’s disease?
Infection with gram positive actinobacteria Tropheryma whippelei and abnormal response of cell-mediated immunity
What is Whipple’s disease associated with?
HLA-B27
What would investigation for Whipple’s disease show?
Jejunal biopsy shows deposition of macrophages containing PAS +ve granules
What is the management of Whipple’s disease?
14 days of ceftriaxone or benxylpenicillin
Year of trimethoprim or sulfamethoxazole
A 66-year-old man is under investigation for recurrent fevers and arthralgia. He has had episodes of fevers over the last 4 years associated with seronegative non-destructive arthropathies. Episodes have been characterised by elevated C-reactive protein (CRP) and have responded to antibiotics. Blood cultures have been persistently negative.
On this admission, the patient complains of persistent diarrhoea and weight loss over the last 6 months, as well as myalgia. His wife has noticed that he has become more forgetful of late.
On examination, he is pale and thin, and auscultation reveals a systolic murmur in the aortic area. Central nervous system (CNS) examination shows signs of mild ataxia.
What is the most likely diagnosis?
Whipple’s disease
