rheuma

Question 1

What is osteoarthritis?

Answer 1

Osteoarthritis (OA) is a degenerative joint disease causing progressive destruction of articular cartilage, subchondral sclerosis, osteophyte formation, and joint space narrowing.

Question 2

What are the risk factors for osteoarthritis?

Answer 2

Age (most important)
joint trauma, fractures, or repetitive stress
female gender
obesity,
congenital joint dysplasia,
occupational overuse (manual labor, athletes).

Question 3

What are the common symptoms of osteoarthritis?

Answer 3

Joint pain (worsens with movement, relieved by rest), morning stiffness (<30 minutes), limited range of motion in late-stage OA, bony crepitus & deformity in affected joints. Muscle wasting

Question 4

What are the most commonly affected joints in osteoarthritis?

Answer 4

Weight-bearing joints: Knees, hips, lumbar spine. Hands: DIP (Heberden’s nodes) & PIP (Bouchard’s nodes). First carpometacarpal joint. First metatarsophalangeal joint.
Asymmetrical joint involvement

Question 5

How is osteoarthritis diagnosed?

Answer 5

X-ray findings: Joint space narrowing, osteophytes, subchondral sclerosis, subchondral cysts. MRI: Detects early cartilage changes (not routine). Blood tests: Normal CBC, ESR, and negative rheumatoid factor.

Question 6

How is osteoarthritis managed?

Answer 6

Lifestyle modifications: Weight loss, exercise, physiotherapy. Pain relief: Paracetamol → NSAIDs (short-term use) → Intraarticular steroids. Severe cases: Joint replacement surgery.

Question 7

What is rheumatoid arthritis?

Answer 7

Chronic, autoimmune systemic inflammatory arthritis affecting multiple joints symmetrically, causing synovial inflammation, pannus formation, and joint destruction.

Question 8

What are the risk factors for rheumatoid arthritis?

Answer 8

Genetic: HLA-DR4 & HLA-DR1. Female gender (3x more common). Smoking (major modifiable risk factor). Obesity. Hormonal factors (premenopausal women).

Question 9

What are the clinical features of rheumatoid arthritis?

Answer 9

Morning stiffness >30 minutes (improves with activity), symmetric joint pain and swelling (PIP, MCP, wrists, knees), spares DIP joints, joint instability, subluxation, and effusions, rheumatoid subcutaneous nodules.

Question 10

What are the common joint deformities in RA?

Answer 10

Boutonnière deformity: Flexion of PIP, extension of DIP. Swan-neck deformity: Extension of PIP, flexion of DIP. Z-shaped thumb: MCP flexion, IP hyperextension. Ulnar deviation of fingers.

Question 11

What are the extra-articular manifestations of RA?

Answer 11

Ocular: Sjögren’s syndrome, scleritis, episcleritis.
Pulmonary: Pleural effusion, nodules, fibrosis, Caplan syndrome: rheumatoid pneumoconiosis.
Cardiac: Pericarditis, pericardial effusion, accelerated atherosclerosis.
Hematologic: Felty’s syndrome (RA + splenomegaly + neutropenia). Anemia (chronic disease or NSAIDs use).
Renal: Amyloidosis, analgesic nephropathy.
Neurological: Entrapment neuropathy (carpal tunnel syndrome), cervical myelopathy (atlantoaxial subluxation), peripheral polyneuropathies, mononeuritis multiplex.
Vasculitis > leg ulcers, nail infarcts, gangrene of fingers, toes, bowel, or peripheral nerves.

Question 12

What investigations are used to diagnose RA?

Answer 12

Serology: Rheumatoid factor (RF): Positive in 70% (not specific). Anti-CCP antibodies: 95% specific for RA. Inflammatory markers: Elevated ESR & CRP. X-ray findings: Early: Soft tissue swelling, periarticular osteopenia. Late: Joint space narrowing, erosions, subluxation. Synovial fluid analysis: Inflammatory (>2,000 WBCs, neutrophilic predominance, sterile).

Question 13

How is rheumatoid arthritis treated?

Answer 13

Early initiation of DMARDs (Disease-Modifying Anti-Rheumatic Drugs). Methotrexate (first-line). Sulfasalazine, Leflunomide, Hydroxychloroquine (mild cases). Biologic DMARDs (anti-TNF agents like Infliximab, Etanercept) for severe disease. NSAIDs for symptomatic relief (do not modify disease course). Corticosteroids: oral: Used for flares as a bridge therapy but should be tapered off. Injection: for hard joints.

Question 14

What is methotrexate and how does it work?

Answer 14

Methotrexate is a first-line DMARD for rheumatoid arthritis (RA). It is given once weekly with folic acid supplementation to reduce side effects. Side effects: Hepatotoxicity, bone marrow suppression, stomatitis, teratogenicity, interstitial lung disease (MTX pneumonitis), and GI upset. Regular LFTs, CBC, and renal function monitoring is required.

Question 15

What are TNF alpha inhibitors?

Answer 15

EX: Infliximab, adalimumab, etanercept, golimumab, certolizumab. Must screen with PPD prior to use (may cause reactivation of TB). 1st line if not responding/intolerant of MTX (active disease despite 2 DMARDs). Often primarily used in combination with MTX. Safe in pregnancy. Contraindicated in HF. Toxicity: may lead to infections.

Question 16

What is hydroxychloroquine?

Answer 16

Hydroxychloroquine is an anti-malarial DMARD that suppresses the immune response. It is commonly used in RA and lupus (SLE). Safe in pregnancy. Side effects: Irreversible retinopathy leading to vision loss. Patients need baseline and annual ophthalmologic screening.

Question 17

What are the other DMARDs?

Answer 17

Sulfasalazine, Rituximab, Abatacept, Jack Inhibitor, Leflunomide, Tocilizumab, Anakinra, Gold salts.

Question 18

What are seronegative spondyloarthropathies, and what are their common features?

Answer 18

Seronegative spondyloarthropathies are a group of chronic inflammatory arthritis affecting the vertebral column and peripheral joints.
They include ankylosing spondylitis, psoriatic arthritis, reactive arthritis, and enteropathic arthritis.
Common features include: RF & anti-CCP negative, strong HLA-B27 association, enthesitis (Achilles tendonitis, plantar fasciitis), asymmetric peripheral arthritis, axial inflammation (spine/sacroiliac joints), gradual onset of back pain (worse at night, improves with exercise).

Question 19

What are the key features of ankylosing spondylitis (AS)?

Answer 19

AS is an inflammatory disorder of the spine and sacroiliac joints that mainly affects young men. Symptoms: Gradual lower back pain & morning stiffness (>30 minutes). Improves with activity, worsens with rest. Loss of lumbar lordosis, increased thoracic kyphosis. Reduced chest expansion, abnormal Schober’s test (<15 cm). Enthesitis (Achilles tendonitis, plantar fasciitis). Extra-articular manifestations: Anterior uveitis, aortic regurgitation, cardiac conduction defects, apical lung fibrosis, IgA nephropathy, prostatitis, IBD association. Investigations: High ESR & CRP. X-ray (best initial test): Sacroiliitis, syndesmophytes → bamboo spine. MRI detects early disease. Treatment: Morning exercises, NSAIDs, anti-TNF (infliximab). Methotrexate is ineffective for axial disease.

Question 20

What are the key features of psoriatic arthritis (PsA)?

Answer 20

PsA develops in 10% of psoriasis patients, especially those with nail disease. Patterns of arthritis: 1. DIP arthritis (most typical): Dactylitis (sausage fingers), nail pitting, pencil-in-cup deformity (X-ray). 2. Asymmetric oligoarthritis (≤4 joints affected). 3. Sacroiliitis. 4. Symmetric seronegative polyarthritis (resembles RA). 5. Arthritis mutilans: Severe bone destruction. Investigations: X-ray: Pencil-in-cup deformity (erosions with pointed bone appearance). Treatment: NSAIDs, local steroid injections. Methotrexate or anti-TNF for severe cases.

Question 21

What are the key features of reactive arthritis (ReA)?

Answer 21

ReA is a post-infectious sterile arthritis triggered by: GI infections (Shigella, Salmonella, Yersinia, Campylobacter), STDs (Chlamydia, Ureaplasma). HIV infection increases risk. Clinical Features: Acute asymmetric arthritis (knees, ankles, feet). Reiter’s Syndrome (Can’t see, can’t pee, can’t climb a tree): Conjunctivitis, urethritis/cervicitis, reactive arthritis. Mucocutaneous involvement: Circinate balanitis (painless penile ulcers), keratoderma blennorrhagicum (psoriasis-like lesions on palms/soles), dactylitis, sacroiliitis, Achilles tendonitis. Investigations: CBC: High WBC & platelets. Inflammatory markers: High ESR & CRP. Negative RF & anti-CCP. Stool culture, urethral swabs for infection. Treatment: NSAIDs, local corticosteroids, treat underlying infection. Sulfasalazine for refractory cases.

Question 22

What are the key features of enteropathic arthritis?

Answer 22

Enteropathic arthritis occurs in 10-15% of inflammatory bowel disease (IBD) patients. Associated with Crohn’s disease & ulcerative colitis. Large joint monoarthritis or asymmetric oligoarthritis. Parallels IBD activity. Sacroiliitis may be present.

Question 23

What is gout, and what causes it?

Answer 23

Gout is an inflammatory crystal arthropathy caused by the deposition of uric acid crystals in synovial fluid and tissues. Associated with hyperuricemia, but can also occur with normal uric acid levels. Triggers: ↑ Uric acid levels (insufficient excretion or increased purine production), acidosis, low temperature (cool peripheral joints).

Question 24

What are the causes of hyperuricemia?

Answer 24

Primary hyperuricemia: Idiopathic uric acid overproduction without comorbidities or medications.
Secondary hyperuricemia: Decreased uric acid excretion (caused by medications: pyrazinamide, aspirin, loop diuretics, thiazides; chronic kidney disease, ketoacidosis, postmenopause). Increased uric acid production (due to high cell turnover: tumor lysis syndrome, leukemia, hemolytic anemia, psoriasis, chemotherapy, Lesch-Nyhan syndrome, high-purine diet).

Question 25

What are the clinical features of gout?

Answer 25

Acute gout attack: Sudden, severe pain, swelling, tenderness, erythema in the affected joint (most commonly the first MTP joint - podagra). More common in middle-aged males. Symptoms often occur at night, can be precipitated by alcohol, dehydration, or diuretics. Chronic gout: Includes tophi (urate crystal deposits in ears, fingers, Achilles tendon, kidney), chronic interval gout, chronic polyarticular gout (elderly women with long-term diuretics use).

Question 26

How is gout diagnosed?

Answer 26

Joint fluid microscopy (gold standard): Negatively birefringent, needle-shaped urate crystals. Serum uric acid: Can be normal, high, or low during an acute attack (not reliable for ruling out). CBC, ESR, CRP, renal function tests. X-ray: Used to rule out trauma; shows 'punched-out' erosions in chronic gout.

Question 27

What is the treatment for gout?

Answer 27

Acute attack: NSAIDs (indomethacin first-line), intraarticular steroids (if NSAIDs contraindicated), colchicine (if NSAIDs & steroids cannot be used). Chronic treatment: Weight loss, avoiding alcohol & high-purine foods, low-dose colchicine, allopurinol (first-line urate-lowering therapy), febuxostat (if allopurinol contraindicated).

Question 28

What is pseudogout, and how does it differ from gout?

Answer 28

Pseudogout is caused by the deposition of calcium pyrophosphate dihydrate (CPPD) crystals in articular cartilage and periarticular tissues, leading to acute synovitis. It mostly affects elderly women and commonly involves large joints (knee, wrist). Unlike gout, pseudogout has a longer duration of attacks and may have systemic symptoms.

Question 29

What are the risk factors for pseudogout?

Answer 29

Primary (idiopathic) form: Most common, age-related. Secondary causes: Hyperparathyroidism, hemochromatosis, Wilson’s disease, alkaptonuria, diabetes, joint trauma, metabolic disorders (hypomagnesemia, hypophosphatasia).

Question 30

How is pseudogout diagnosed?

Answer 30

Joint fluid microscopy: Positively birefringent, rhomboid-shaped CPPD crystals. X-ray: Shows chondrocalcinosis (linear calcifications parallel to joint surface). CBC: Elevated WBC.

Question 31

What is the treatment for pseudogout?

Answer 31

NSAIDs (first-line), intraarticular steroids for severe cases, low-dose colchicine as prophylaxis.

Question 32

What is septic arthritis, and what are the common causative organisms?

Answer 32

Septic arthritis is a medical emergency caused by bacterial infection of the joint space, usually via hematogenous spread. Most common organism: Staphylococcus aureus. Other: Streptococci, Gram-negative bacteria (elderly, IV drug users, immunocompromised patients).

Question 33

What are the risk factors for septic arthritis?

Answer 33

Prosthetic joints, previous joint disease, recent intraarticular steroid injection, diabetes, immunosuppression, age >80, chronic skin infections, IV drug use, endocarditis (polyarticular septic arthritis).

Question 34

What are the clinical features of septic arthritis?

Answer 34

Acute onset of a swollen, painful, erythematous, hot joint with restricted movement. Mostly monoarticular (commonly the knee). Fever is common, but elderly patients may be afebrile.

Question 35

How is septic arthritis diagnosed?

Answer 35

Joint aspiration (gold standard): Purulent fluid with WBC >50,000/mm³, high PMN, opaque color. Gram stain and culture for pathogen identification. CBC, ESR, CRP, blood cultures. X-ray has no diagnostic value.

Question 36

What is the treatment for septic arthritis?

Answer 36

Empirical IV antibiotics (flucloxacillin + vancomycin for immunocompromised patients), joint drainage (aspiration, arthroscopy, or open drainage), NSAIDs for pain, immobilization initially, followed by early mobilization.

Question 37

Overview of Gonococcal SA?

Answer 37

After asymptomatic genital/rectal local infection, young adults, maculopapular pustules, culture positive in blood, joint, and genital fluid. Treatment: 2 weeks: penicillin, ciprofloxacin, or doxycycline.

Question 38

Overview of Meningococcal SA?

Answer 38

Migratory polyarthritis, deposition of circulatory immune complexes with meningococcal antigens. Treatment: penicillin.

Question 39

Overview of Tuberculous SA?

Answer 39

Hip, knee, spine. Febrile, night sweats, weight loss. Insidious onset, pain, swelling, dysfunction. Culture or biopsy necessary. Treatment: TB treatment for 9 months.

Question 40

What is osteomyelitis, and what are the common causative organisms?

Answer 40

Osteomyelitis is a bone infection, classified as hematogenous (spread via blood) or nonhematogenous (direct spread from soft tissues or trauma). Most common organism: Staphylococcus aureus. Other causes: H. influenzae, Salmonella (in sickle cell anemia patients).

Question 41

What are the risk factors for osteomyelitis?

Answer 41

Recent trauma/surgery, diabetes, IV drug use, poor vascular supply, peripheral neuropathy, open fractures, severe soft tissue injury.

Question 42

What are the clinical features of osteomyelitis?

Answer 42

New or worsening musculoskeletal pain with fever, tenderness, erythema, edema, impaired weight-bearing. Chronic cases may have abscess or draining sinus tracts.

Question 43

How is osteomyelitis diagnosed?

Answer 43

MRI (gold standard). Blood work: CBC, ESR, CRP, blood culture. Bone biopsy/aspiration for culture. X-ray: Visible changes appear after 8-10 days (periosteal reaction, cortical destruction, moth-eaten appearance, soft tissue swelling).

Question 44

What is the treatment for osteomyelitis?

Answer 44

Acute: IV antibiotics for 4-6 weeks, adjusted based on culture results. Chronic: Surgical debridement + IV & local antibiotics (e.g., antibiotic beads).

Question 45

What is systemic lupus erythematosus (SLE), and what are its causes?

Answer 45

SLE is a chronic autoimmune disorder characterized by exacerbations and remissions, leading to multisystem inflammation and tissue damage. 90% of cases occur in women, more common in African Americans. Causes: Genetic factors (HLA-DR2, HLA-DR3, HLA-B8, complement deficiencies C1q, C2, C4), environmental triggers (EBV, UV light, estrogen, smoking, silica exposure), drug-induced lupus (hydralazine, isoniazid, procainamide, penicillamine).

Question 46

What is the pathophysiology of SLE?

Answer 46

Autoantibody development: Deficiency of classical complement proteins (C1q, C4, C2) → failure of macrophages to clear apoptotic cells → autoantibody production (ANA, anti-dsDNA). Autoimmune reactions: Type III hypersensitivity (immune complex deposition in microvasculature → complement activation → tissue inflammation in skin, kidneys, joints). Type II hypersensitivity (IgG/IgM-mediated cytopenia).

Question 47

What are the clinical manifestations of SLE?

Answer 47

Malar rash (butterfly rash), arthritis (non-erosive, symmetrical), fatigue, fever, weight loss, serositis (pleuritis, pericarditis), glomerulonephritis, psychosis, seizures, hemolytic anemia, leukopenia, thrombocytopenia, Raynaud’s phenomenon, thrombotic events, retinopathy, Antiphospholipid syndrome, cotton-wool spots, Aseptic necrosis of the hip/knee.

Question 48

How is SLE diagnosed?

Answer 48

At least 4 of 11 ACR criteria: Malar rash, discoid rash, photosensitivity, oral ulcers, arthritis, serositis (pleuritis/pericarditis), renal disease (proteinuria, hematuria, glomerulonephritis), neurologic (psychosis, seizures, stroke, headaches), hematologic (anemia, leukopenia, thrombocytopenia), positive ANA (highly sensitive, but not specific), positive anti-dsDNA or anti-Sm antibodies (highly specific).

Question 49

What are the main investigations for SLE?

Answer 49

ANA screening test (sensitive but not specific), anti-dsDNA (specific & indicates disease activity), anti-Sm (specific), anti-Ro (risk of neonatal lupus/heart block), anti-histone (drug-induced lupus), decreased complement (C3, C4), increased ESR (not a marker of activity), urinalysis (proteinuria, casts).

Question 50

How is SLE managed?

Answer 50

Avoid sun exposure, control cardiovascular risks, monitor and treat: renal disease and HTN. NSAIDs (mild symptoms), hydroxychloroquine (long-term therapy for skin/joint disease, annual eye exams needed), high-dose steroids for flares, belimumab (B-cell inhibitor for progression control), cyclophosphamide + steroids for lupus nephritis.

Question 51

What is antiphospholipid syndrome (APS), and what are its features?

Answer 51

APS is a hypercoagulable state caused by antiphospholipid antibodies leading to thrombosis and recurrent miscarriages. Associated antibodies: Anti-cardiolipin, lupus anticoagulant (prolonged APTT), anti-beta2-glycoprotein.

Question 52

What are the clinical features of APS?

Answer 52

Thrombosis (DVT, stroke, MI, Budd-Chiari syndrome), recurrent miscarriages, livedo reticularis, splinter hemorrhages, valvular heart disease, renal impairment, thrombocytopenia.

Question 53

How is APS diagnosed?

Answer 53

Requires one clinical (vascular thrombosis or pregnancy loss) and one laboratory criterion (persistent antiphospholipid antibodies on two tests 12 weeks apart) (IgG and/or IgM anticardiolipin antibodies OR IgG and/or IgM anti-beta2-glycoprotein OR Lupus anticoagulant).

Question 54

How is APS treated?

Answer 54

Asymptomatic APS does not require treatment. Acute thrombosis: Heparin + warfarin (INR 2-3). Recurrent thrombosis: Lifelong warfarin. Pregnancy: LMWH + aspirin.

Question 55

What is scleroderma, and what are its types?

Answer 55

Scleroderma is a chronic connective tissue disorder causing excess collagen deposition, fibrosis, and vasculopathy. Types: Limited scleroderma (CREST syndrome) → Calcinosis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasia. Diffuse scleroderma → More severe systemic involvement (lungs, heart, kidneys).

Question 56

What are the clinical features of scleroderma?

Answer 56

Raynaud’s phenomenon, skin thickening (face & hands), sclerodactyly (claw-like hands), telangiectasia, GERD, delayed gastric emptying, bacterial overgrowth, pulmonary fibrosis, pulmonary hypertension (leading cause of death), cardiac arrhythmias, RVH, CHF, renal crisis (malignant hypertension, kidney failure).

Question 57

What investigations are done for scleroderma?

Answer 57

ANA positive, anti-centromere (CREST syndrome), anti-topoisomerase I (diffuse disease), nailfold capillaroscopy, barium swallow, HRCT (lung fibrosis), PFT (restrictive pattern), ECG (arrhythmias), echocardiogram (pulmonary hypertension).

Question 58

How is scleroderma managed?

Answer 58

NSAIDs for musculoskeletal pain. Raynaud’s: CCBs, avoiding cold exposure/smoking. Esophageal reflux: PPIs. Pulmonary hypertension: Bosentan, sildenafil. Renal crisis: ACE inhibitors. Fibrosis: Methotrexate, cyclophosphamide.

Question 59

What is Sjogren’s syndrome, and what are its causes?

Answer 59

Sjogren’s syndrome is a chronic autoimmune disease causing destruction of exocrine glands (mainly lacrimal and salivary glands). It primarily affects middle-aged women and can be primary (isolated) or secondary (associated with rheumatoid arthritis, systemic lupus erythematosus (SLE), systemic sclerosis, polymyositis, or primary biliary cholangitis).

Question 60

What are the clinical features of Sjogren’s syndrome?

Answer 60

Dry eyes (keratoconjunctivitis sicca), dry mouth (xerostomia), difficulty eating dry foods, parotid gland enlargement, high risk of dental caries, fissured tongue, arthritis, pulmonary fibrosis, Raynaud’s phenomenon, vasculitis, renal tubular acidosis, increased risk of non-Hodgkin’s B-cell lymphoma, vaginal dryness, nasal dryness, chronic dry cough, xerosis (dry skin), pruritus, rhinits and epistaxis, autoimmune thyroiditis, neurological involvement (peripheral neuropathy, myelitis).

Question 61

What are the investigations for Sjogren’s syndrome?

Answer 61

Serum autoantibodies (ANA, anti-Ro, rheumatoid factor in 1°), labial gland biopsy (lymphocyte infiltration), Schirmer’s test (tear production <10 mm in 5 min), CBC (normocytic anemia, leukopenia, eosinophilia), ↑ ESR, urinalysis (proteinuria, RBC casts), cryoglobulinemia, hypergammaglobulinemia, ↓ Complement C3 &/or C4, salivary gland imaging (ultrasound, MRI).

Question 62

How is Sjogren’s syndrome managed?

Answer 62

Artificial tears, saliva replacement, pilocarpine for xerostomia, NSAIDs for arthritis, hydroxychloroquine for systemic involvement.

Question 63

What are polymyositis and dermatomyositis, and how do they differ?

Answer 63

Polymyositis (PM) is an inflammatory myopathy affecting proximal skeletal muscles, leading to progressive symmetrical muscle weakness. Dermatomyositis (DM) has similar muscle involvement but also includes distinctive skin findings. Both affect adults/children, more in middle age women. Peak 40-50 age.

Question 64

What are the clinical features of polymyositis?

Answer 64

Symmetrical progressive muscle weakness, and wasting: difficulty squatting, going upstairs, rising from a chair, raising the hands above the head. Involvement of the pharyngeal, laryngeal & respiratory muscles: head drop, dysphasia, dysphonia, & respiratory failure. Esophageal muscle involvement: dysphasia. Arthralgia, fatigue, morning stiffness, low-grade fever, Raynaud's phenomenon. Normal sensation and reflexes. Histological heart involvement, persistent, low-grade myoglobinuria, ILD, arthritis, mechanic, and Raynaud phenomenon in Jo1 positive.

Question 65

What are the clinical features in dermatomyositis?

Answer 65

Same as PM plus: Heliotrope, Gottron's papules, V sign, shawl sign, periungal erythema, Raynaud’s phenomenon, subcutaneous calcifications, increased incidence of malignancy (ovarian, breast, colon, NHL, melanoma).

Question 66

What are the laboratory findings in polymyositis and dermatomyositis?

Answer 66

Elevated creatine kinase (CK), aldolase, ALT, AST. Autoantibodies: Anti-Jo-1 (associated with interstitial lung disease), anti-Mi-2 (DM), anti-SRP (PM). Muscle biopsy: Lymphocytic infiltration in polymyositis, perifascicular atrophy in dermatomyositis.

Question 67

How are polymyositis and dermatomyositis treated?

Answer 67

Oral prednisone, anti-osteoporosis treatment, immunosuppressive therapy (azathioprine, methotrexate, ciclosporin) for relapse, IVIG, plasmapheresis.

Question 68

What is Marfan syndrome, and what are its clinical features?

Answer 68

Autosomal dominant disorder (fibrillin-1 gene mutation on chromosome 15). Features: fragility of the skin & bruising, tall stature, arachnodactyly, hypermobile joints, high-arched palate, lens dislocation, cardiovascular complications (ascending aortic aneurysm, aortic dissection, mitral valve prolapse), Berry aneurysms: rupture leads to subarachnoid hemorrhage, spinal deformities (scoliosis, hyperkyphosis).

Question 69

What is Ehlers-Danlos syndrome, and what are its clinical features?

Answer 69

Inherited collagen defect (mutations in COL5A1, COL3A1). Features: hyperelastic skin, hypermobile joints, easy bruising, mitral valve prolapse, aortic dissection, berry aneurysms: rupture leads to subarachnoid hemorrhage, skeletal abnormalities (e.g., scoliosis, pectus deformity).

Question 70

How are Marfan and Ehlers-Danlos syndrome diagnosed?

Answer 70

Clinical diagnosis, genetic testing for confirmation.

Question 71

What are the different types of muscle disorders?

Answer 71

Myalgia (muscle symptoms without increased CK), myositis (muscle symptoms with increased CK), myopathy (functional/structural muscle impairment).

Question 72

What are the causes of myopathy?

Answer 72

Drugs (statins, steroids), infections (viral, bacterial, parasitic), metabolic disorders (glycogen storage diseases), endocrine diseases (thyroid disorders, Cushing’s, hyperparathyroidism), neuromuscular disorders, fibromyalgia, polymyalgia rheumatica.

Question 73

What is fibromyalgia, and what are its clinical features?

Answer 73

Chronic widespread pain disorder with no inflammatory cause, associated with central pain sensitization. Features: Pain ≥3 months, 11/18 tender points, fatigue, sleep disturbances, cognitive impairment ('fibro fog'), common in women.

Question 74

How is fibromyalgia managed?

Answer 74

Exercise, cognitive-behavioral therapy (CBT), amitriptyline, pregabalin, duloxetine.

Question 75

What is polymyalgia rheumatica, and how is it related to giant cell arteritis?

Answer 75

Inflammatory disorder affecting elderly patients, associated with HLA-DR4 and giant cell arteritis. Symptoms: bilateral shoulder/hip pain, morning stiffness >1 hour, fatigue, weight loss. 15% of PMR patients have GCA; 50% of GCA patients have PMR.

Question 76

How is polymyalgia rheumatica diagnosed and treated?

Answer 76

Elevated ESR, responsive to low-dose steroids (symptoms improve within 24-48 hours).

Question 77

What is Myofascial pain syndrome?

Answer 77

A chronic condition that arises from inflammation in your muscles and fascia. Features: unbearable pain from one point of body to next, deep aching muscle pain, joint stiffness, areas of tension (knot-like feeling). Sites: arms/legs, neck & back, buttocks, + many referred trigger points. Treatment: analgesia, antidepressants, muscle relaxants, physiotherapy, acupuncture.

Question 78

What is osteoporosis, and what are its risk factors?

Answer 78

Metabolic bone disease caused by increased bone resorption. Risk factors: BMD-dependent: Female sex/hypogonadism, immobilization, chronic liver/renal disease, COPD, GI disease, low dietary calcium intake, vitamin D deficiency, endocrine (Cushing’s, hyperthyroidism, hyperparathyroidism), others (DM/MM), Caucasian/Asian. BMD-independent: Previous fragility fracture, family history, history of hip fracture, low BMI, smoking and alcohol, steroid therapy, high bone turnover rheumatoid arthritis, increased risk of falls.

Question 79

What are the clinical features of osteoporosis?

Answer 79

Fragility fractures (vertebrae, hip, wrist (Colles fracture)), kyphosis, loss of height.

Question 80

How is osteoporosis diagnosed?

Answer 80

DEXA scan (T-score ≤ -2.5), vertebral fractures on X-ray.

Question 81

How is osteoporosis managed?

Answer 81

Lifestyle changes (calcium, vitamin D, protein, weight-bearing exercise), avoid (smoking, alcohol, glucocorticoids, falls).

Question 82

What is the treatment of osteoporosis?

Answer 82

Oral bisphosphonates (alendronate & risedronate), IV if oral is contraindicated. Denosumab given as single injection every 6 months. SERM such as Raloxifene. Teriparatide (recombinant parathyroid hormone) in patients with very high risk of fracture or failed to respond to other therapies. HRT is reserved for early post-menopausal women with perimenopausal symptoms.

Question 83

What is osteomalacia, and what causes it?

Answer 83

Osteomalacia is a disorder of bone mineralization caused by vitamin D deficiency, calcium or phosphate depletion, or direct inhibition of bone mineralization. It affects individuals after epiphyseal closure, while rickets affects children. The most common cause is vitamin D deficiency.

Question 84

What are the clinical manifestations of osteomalacia?

Answer 84

Asymptomatic in mild cases, proximal muscle weakness, bone pain, fractures, hypocalcemia (tetany, seizures in severe cases).

Question 85

How is osteomalacia diagnosed?

Answer 85

Low serum 25-hydroxyvitamin D3, high alkaline phosphatase, high PTH.

Question 86

What is the treatment for osteomalacia?

Answer 86

Vitamin D supplementation (loading dose followed by maintenance therapy), supplementary calcium.

Question 87

What is Paget’s disease of the bone, and what causes it?

Answer 87

A disorder of bone remodeling characterized by increased osteoclastic resorption followed by weak bone formation, increased blood flow, and fibrosis. Etiology is unknown.

Question 88

What are the clinical features of Paget’s disease?

Answer 88

Bone pain, deformities (skull enlargement, tibial bowing), fractures, nerve compression (deafness, paraparesis), high-output cardiac failure, osteogenic sarcoma.

Question 89

How is Paget’s disease diagnosed?

Answer 89

Raised serum alkaline phosphatase (>1000 U/L) with normal calcium and phosphate, high urinary hydroxyproline (marker of disease activity), X-ray (bone enlargement, sclerosis, osteolytic lesions), radionuclide bone scan (increased uptake).

Question 90

What is the treatment for Paget’s disease?

Answer 90

Bisphosphonates (first-line therapy to inhibit osteoclasts), surgery for severe deformities or fractures.

Question 91

What are polymyalgia rheumatica (PMR) and giant cell arteritis (GCA)?

Answer 91

PMR: Abrupt onset proximal muscle pain & stiffness, constitutional symptoms. GCA: Inflammation of temporal & vertebral arteries, causing headache, scalp tenderness, jaw claudication, risk of blindness (ophthalmic artery).

Question 92

How are PMR and GCA diagnosed and managed?

Answer 92

High ESR (around 100 mm/h), normocytic anemia, temporal artery biopsy for GCA. Treatment: High-dose corticosteroids, osteoporosis prophylaxis.

Question 93

What is Takayasu’s arteritis?

Answer 93

Vasculitis affecting the aortic arch and major arteries, common in Japan. Symptoms include hypertension, absent peripheral pulses, stroke, heart failure. Treated with corticosteroids.

Question 94

What is polyarteritis nodosa (PAN)?

Answer 94

Necrotizing arteritis affecting middle-aged men, linked to chronic hepatitis B. Symptoms include renal infarctions, mononeuritis multiplex (foot drop), GI ulcers, skin ulcers, hypertension, digital ischemia. Diagnosis: Angiography (beading microaneurysms), biopsy, high ESR/CRP, P-ANCA in 20%. Treated with Prednisone ± cyclophosphamide.

Question 95

What is Kawasaki disease?

Answer 95

Acute systemic vasculitis in children <5 years, causing fever >5 days, conjunctivitis, cervical lymphadenopathy, strawberry tongue, desquamation. Risk of coronary aneurysms. Treated with IVIG & aspirin.

Question 96

What are ANCA-positive vasculitides?

Answer 96

Wegner’s Granulomatosis: C-ANCA+, lung cavities (nodular infiltrates w/ caseation, Ground glass opacities of pulmonary hemorrhage, Reticulo-nodular infiltrates), sinusitis, nasal destruction. Microscopic polyangiitis (MPA): P-ANCA+, pulmonary fibrosis, glomerulonephritis. Churg Strauss syndrome: Eosinophilic: P-ANCA+, asthma, eosinophilia, purpuric rash.

Question 97

What is Behçet’s disease?

Answer 97

Vasculitis of all vessel sizes. Features oral/genital ulcers, uveitis, arthritis, CNS involvement (meningoencephalitis, CVT). Diagnosis: Skin pathergy test (needle prick → pustule in 48h). Treated with steroids, azathioprine, ciclosporin, thalidomide.

Question 98

What is Henoch-Schönlein purpura (HSP)?

Answer 98

IgA-mediated vasculitis, common in children, triggered by infection. Features: palpable purpura, abdominal pain, hematuria, arthritis. IgA nephropathy. Treated with steroids if severe.

Question 99

What is cryoglobulinemia?

Answer 99

Immune complex-mediated vasculitis associated with hepatitis B/C. Features purpura, nephritis, neuropathy, arthralgia. Treatment: Steroids + cyclophosphamide (if severe). If due to hep. C: HCV tx.