Disease Summary

Question 1

Acromegaly

Answer 1

• Excessive growth hormone after the growth plates have closed; due to GH secreting pituitary adenoma
• Presents with large spatulate hands, lantern-shaped jaws, overhanging brows, increased hat size, headaches and visual problems
• Enlarged sella truck on lateral skull xray, arrow head appearance of the terminal phalanges and thickened heel pad > 23mm seen on the lateral X-ray of the foot
• refer to an endocrinologist

Question 2

Ankylosing Spondylitis

Answer 2

• chronic inflammatory condition involving the sacroiliac joints and the axial skeleton marked by bone formation at ligament and tendon attachments, 90% are HLA B27 positive
• presents with low backache > 3 months duration, better with exercise not with rest, limitation of lumbar spine movement in sagittal and coronal places, bilateral sacroiliac tenderness and decreased chest expansion with inspiration
• X-ray may show blurring of the SI joints, shiny corners, marginal syndesmophwytes, dagger sign and bamboo spine
• ESR and alkaline phosphatase may be elevated in the active phase
• co-manage with a rheumatologist

Question 3

Charcot Marie Tooth Disease

Answer 3

• hereditary motor and sensory neuropathy with perennial muscle atrophy
• may present with wasted perennial muscles, foot drop, high arch and claw toes along with loss of touch in the feet and legs
• refer to a neurologist

Question 4

Dermatomyositis

Answer 4

• autoimmune inflammatory disease affecting muscle and the skin
• presents with fatigue, heliotrope discoloration of the eyelids, muscle fatigue affecting proximally muscles groups initially
• CK, MM, and LDH will be elevated, ANA is positive; muscle and skin biopsy is diagnostic
• refer to a dermatologist

Question 5

Duchenne’s Muscular Dystrophy

Answer 5

• x-linked chromosomal abnormality with deficient dystrophin
• presents with proximal muscle weakness, pseudohypertrophic calf muscles, + Gowers sign and a waddling gait
• muscle biopsy is diagnostic
• refer to a pediatrician

Question 6

Ehlers-Danlos Disease

Answer 6

• inherited connective tissue with defective collagen
• presents with hyperbole joints, skin that easily stretches and is easily damages, kyphoscoliosis
• refer to a pediatrician

Question 7

Hemachromatosis

Answer 7

• condition characterized by accumulation of iron in certain tissues such as the liver, pancreas, skin and testis; presents with bronze skin, fatigue, joint pains, hair loss, decreased libido
• serum iron levels will be elevated
• beak-like osteophytes at the radial margins of metacarpal heads on X-ray of the hands
• refer to a hematologist

Question 8

Gout

Answer 8

• metabolic condition characterized by deposition of uric acid crystals in joints
• may present with sudden onset of severe joint pain and swelling in the big toe, top may be found in the skin or ear in chronic grout
• X-ray may show soft tissue swelling and then bony erosions with overhanging edges
• negative birefringent needle crystals in aspirated synovial fluid is diagnostic
• co-manage with a rheumatologist, advice on avoidance of alcohol and purine rich foods and proper hydration are useful

Question 9

Lyme Disease

Answer 9

• infection of skin, nerves, muscles and joints caused by Borrelia burgdorferi transmitted by deer tick
• presents with a flu-like illness with a bull’s eye rash (erythema migrants) in Stage 1
• bell’s palsy and peripheral neuropathy in Stage 2
• chronic arthritis and muscle pains in Stage 3
• Lyme ELISA is confirmatory
• refer to a rheumatologist

Question 10

Marfan’s Disease

Answer 10

• hereditary condition resulting in defective fibrillin production
• presents with tall, thin body habits, hypermobile joints, lens dislocation, aortic incompetence, mitral valve prolapsed, dissecting thoracic aorta
• refer to an internist

Question 11

Mitral Stenosis

Answer 11

• mitral valve damage due to rheumatic fever following a streptococcal infection of the throat
• presents with fatigue, a malaria flush and a diastolic murmur heard best in the 5th left intercostal space in the midclavicular line
• ehocardiography will confirm the nature of the disease and its severity
• refer to a cardiologist

Question 12

Osteoarthritis

Answer 12

• progressive degeneration of articular cartilage
• presents with pain in the weight-bearing joints: knee, hip, spine
• morning stiffness lasting less than 1 hour, pain worsens with use and towards the end of the day
• xray will show narrowing of the joint space, subchondral sclerosis, marginal osteophytes and subchondral cysts
• co-manage with an orthopedist, advice on weight loss, exercise and nutritional supplements with glucosamine will be helpful

Question 13

Osteomyelitis

Answer 13

• bacterial infection of bones; commonly associated with IV drug use and staphylococcus aureus
• presents with fever, nearby joint is swollen, affected area is swollen, warm and red
• CBC will show leukocytosis with elevated neutrophils
• xray will show soft tissue swelling initially with Brodies abscess, onvolucrum and sequestrated bone later, MRI is the radiological imaging gold standard for diagnosis
• refer to the hospital

Question 14

Osteoporosis

Answer 14

• progressive metabolic bone disease in which there is generalized decreased bone density, seen more commonly in postmenopausal women (linked to estrogen deficiency) and in men after the 70s (due to decreased growth hormone)
• presents with decreased height, increased kyphosis, dowager hump (in the cervicothoracic region), increase risk of fractures (usually T6 and below)
• spinal xray will show the demineralization of the bone with few but accentuated trabecular, Wade’s triangle may be present in the neck of the femur, serum calcium and phosphate will be normal; a DEXA score greater than 2.5 is needed for the diagnosis
• co-manage with an orthopedist, prevention is aimed at risk reduction - smoking cessation, regular weight-bearing exercises and increased calcium and vitamin D consumption

Question 15

Psoriasis

Answer 15

• chronic skin disorder with genetic predisposition aggravated by stress and physical trauma
• presents with plaques of silvery scales over the extensor aspects of the elbows, knees, and sacrum
• may also present with pains in the small joints and pitted nails
• X-ray of affected hands cup and pencil deformities and sausage fingers, biopsy is diagnostic
• co-manage with a rheumatologist and a dermatologist

Question 16

Rheumatic Fever

Answer 16

• autoimmune disease triggered by recent strep, progenies infection affecting heart, skin and joints
• presents with Sydenham’s chores, Polyarthritis (migratory joint pains), Erythema marginatum, Carditis (heart murmurs), Subcutaneous nodules
• ASOT and ESR are elevated and the PR interval is prolonged
• refer to the hospital

Question 17

Rheumatoid Arthritis

Answer 17

• most common autoimmune disorder; seen more commonly in middle aged females
• presents with bilateral PIP, MCP and wrist pain with morning stiffness lasting more than 1 hour
• Rheumatoid Factor is raised in 70% of patients , ESR is raised along with Anti-CCP
• X-rays may show symmetrical bilateral intra articular erosions, periarticular osteoporosis with ulnar deviation of the MCP joints
• co-manage with a rheumatologist

Question 18

Sarcoidosis

Answer 18

• chronic systemic granulomatous disease of skin and reticule-endothelial tissue seen more commonly in black females
• presents with erythema nudism, night sweats, fatigue and insidious shortness of breath with peripheral neuropathy and splenomegaly
• leucopenia and hypercalcemia are present; ACE may be also elevated
• X-ray of the chest will show bilateral hillier lymphadenopathy or diffuse reticular infiltrate of the lungs
• biopsy will show the typical granulomas with non-caseous necrosis
• co-manage with a pulmonologist

Question 19

Scleroderma

Answer 19

• chronic autonomic connective tissue disorder characterized by fibrosis, more common in females
• presents with thickened shin skin over the fingers, sensitivity to cold, joint pains with tendon credits, shortness of breath, fatigue and dysphagia; associated with CREST (Calcinosis cutis, Raynaud’s phenomenon, Esophageal hypomotility, Sclerodactyly and Telangiectasia) syndrome
• co-manage with a pulmonologist

Question 20

Scoliosis

Answer 20

• lateral curvature of the spine greater than 10 degrees, may be congenital (hemivertebra) or acquired (spinal tumors or poliomyelitis) or idiopathic (most common - 80%)
• presents with lateral curvature of the thoracolumbar spine
• X-ray of the spine will confirm the curvature, use Cobb’s method to determine the course of treatment and for future references to document any changes following treatment
• chiropractic care for scoliosis between 10-20 degrees; refer to an orthopedist for bracing for scoliosis between 20 and 40 degrees and for possible surgery if the scoliosis is greater than 40 degrees; the Petition technique is helpful for many teenage patients for scoliosis

Question 21

Septic Arthritis

Answer 21

• acute infection of one joint caused by bacterial infection often seen in IV drug use; Staphylococcus aureus is the most common causative organism
• presents with fever and severe acute joint pain with swelling and marked decrease in ROM
• leukocytosis and high neutrophils are present in the CBC
• diagnosis is confirmed by joint aspiration with the fluid showing numerous white blood cells and bacteria
• refer to the hospital urgently as this condition causes the greatest destruction of a joint in a short time period

Question 22

SLE

Answer 22

• multisystem chronic autoimmune disease affecting connective tissue, seen more commonly in young female adults
• presents with multiple joint pains, butterfly rash and fatigue
• CBC may show a normocytic normochromic anemia with leucopenia
• ANA (very sensitive) and anti-ds DNA antibodies (very specific) will be positive
• co-manage with a rheumatologist

Question 23

Spondylolisthesis

Answer 23

• anterior movement of one vertebra on the one below; may be congenital or acquired, may be related to stress fractures or degeneration in females over the age of 40 years and is more common in the 4th lumbar vertebra
• presents with low back pain
• xray is necessary to confirm the diagnosis and to determine the degree of slippage using the Meyerding grading method
• refer to an orthopedist if there is a grade III or more slippage

Question 24

Sprain / Strain

Answer 24

• presents with swelling, pain and decreased range of movement, active movement aggravates muscle strain while passive movement with aggravate ligament sprain
• rest, ice compression and exercise are very helpful

Question 25

Tuberculosis of the Spine

Answer 25

* infection of the spine caused by mycobacterium tuberculosis * presents with fatigue, gibbus or a psoas abscess * xray will show the destruction of the anterior part of the vertebral body and may show typical lesions in the apex of the lungs * refer to an infectious disease specialist