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• Systemic lupus erythematosus Epidemiology:- Peak incidence: women aged 20-40 years; no particular age of manifestation in men- US prevalence: highest in African-American, Hispanic, and Asian populations Etiology:- HLA-DR2 and HLA-DR3 are commonly present in individuals with SLE- Genetic deficiency of classical pathway complement proteins (C1q, C2, C4) in approx. 10% - Hormonal factors: studies suggest that hyperestrogenic states (e.g., due to oral contraceptive use, postmenopausal hormonal therapy, endometriosis) are associated with an increased risk of SLE.- Environmental factors: UV light, stimulation of immune cells through infection with bacteria and viruses (in particular EBV, which causes disease flares following infection), medications (e.g., procainamide, hydralazine) Clinical features:- Skin (> 70% of cases): Malar rash (butterfly rash) with sparing of the nasolabial folds, Photosensitivity, Discoid rash, Oral ulcers, Alopecia (nonscarring), Periungual telangiectasia- Joints: Arthritis and arthralgia (> 90% of cases), Mostly nonerosive polyarthritis (normal x-ray)- Fever (> 50% of cases), fatigue (> 80% of cases), weight loss- Musculoskeletal: myalgia and lymphadenopathy- Serositis: pleuritis and pericarditis; effusions and chest pain may occur- Kidneys: nephritis with proteinuria - Heart: involvement of the myocardium, pericardium, valves, and coronary arteries; Libman-Sacks endocarditis (LSE)- Lungs: pneumonitis, interstitial lung disease, pulmonary hypertension- Gastrointestinal: esophagitis, hepatitis, pancreatitis  - Vascular: Raynaud phenomenon, vasculitis, thromboembolism- Neurologic: e.g., seizures, psychosis, personality changes, aseptic meningitis, polyneuropathy, myasthenia gravis- Hematologic: hemolytic anemia, thrombocytopenia, leukopenia- Eyes: keratoconjunctivitis sicca   Diagnostics:1. Screening test: ANA titer (SLE is unlikely if the test is negative)  2. ↑ ANA titer → confirm diagnosis with tests that are highly specific for SLE- Anti-dsDNA antibody testing: autoantibody against double-stranded DNA (dsDNA)→ Positive in 70% of patients and highly specific→ Levels correlate with disease activity→ Associated with lupus nephritis- Anti-Sm antibody testing: Autoantibody against Smith antigens (nonhistone nuclear proteins)→ Positive in only ∼ 30% of patients, but highly specific for SLE3. Other lab tests:- Complete blood count and differential: autoimmune hemolytic anemia, thrombocytopenia, leukopenia, lymphopenia- ESR is frequently elevated, while CRP is often normal.  - ↓ C3 and C4 complement levels- Urinalysis and urine microscopy: proteinuria and/or casts- Antiphospholipid antibodies may be elevated.- Anti-histone antibodies are elevated in drug-induced lupus erythematosus.- Anti-Ro antibodies are elevated in the majority of cases of neonatal lupus erythematosus. Treatment:- Induction therapy: Glucocorticoids ± Immunosuppressive agents (e.g., azathioprine, mycophenolate, cyclophosphamide)- Basic therapy: Hydroxychloroquine (or chloroquine)
• SLE and pregnancy Characteristics:- Fertility is not affected.- Pregnancy may cause flares in disease activity.- ↑ Risk of preterm birth, hypertensive complications (preeclampsia), intrauterine growth restriction, fetal AV block, and miscarriage Risk assessment:- Cardiac, lung, and kidney screening  - Maternal antibodies: anti-Ro/SSA and anti-La/SSB  - Anticardiolipin antibodies and lupus anticoagulant   Management:- Pregnancy planning and counseling: Patients should be advised that discontinuation of SLE medications during pregnancy increases the risk of flares and obstetric complications. Women with active SLE who wish to become pregnant in the near future should defer pregnancy until the disease is well controlled for ≥ 6 months.- Prednisolone, azathioprine; cyclosporin, tacrolimus, and hydroxychloroquine are considered safer drug options during preconception, pregnancy, and breastfeeding.- Some immunosuppressive medications used to treat SLE (e.g. mycophenolate and cyclophosphamide) have severe teratogenic and other adverse fetal effects.- Low-dose aspirin is recommended in all pregnant women from 12 weeks gestation   Neonatal lupus syndrome:- Associated with the transfer of maternal antibodies (anti-Ro/SSA and anti-La/SSB)- Symptoms: Periorbital or diffuse rash (often presents in the first weeks after birth), Cytopenia, Hepatitis, elevated liver enzymes, First- to third-degree congenital AV block
• Rheumatoid arthritis Epidemiology:- Prevalence: ∼ 1% of the population  - Sex: ♀ > ♂ (3:1)- Peak incidence: 50-75 years   Etiology:- Genetic disposition: RA appears to be associated with specific HLA types (HLA-DR4, HLA-DR1). Clinical features:- Polyarthralgia→ Symmetrical pain and swelling of affected joints (also at rest).  → Frequently affected joints: Metacarpophalangeal joints (MCPJs), Proximal interphalangeal joints (PIPJs), Wrist joints, Knee joints, Joints of the axial skeleton are usually spared except for the cervical spine- Morning stiffness > 30 min; often improves with activity- Joint deformities: "Rheumatoid hand" is characteristic, and can include the following deformities:→ Deepening of the interosseous spaces of the dorsum of hand  → Swan neck deformity:  PIP hyperextension and DIP flexion  → Boutonniere deformity: PIP flexion and DIP hyperextension.→ Hitchhiker thumb deformity (Z deformity of the thumb): hyperextension of the interphalangeal joint with fixed flexion of the MCP joint→ Ulnar deviation of the fingers→ Hammer toe→ Atlanto-axial subluxation- Constitutional symptoms: low-grade fever, myalgia, malaise, night sweats- Skin: rheumatoid nodules (common); non-tender, firm, subcutaneous swellings (2 mm-5 cm)  - Lungs: fibrosis, nodules, pleuritis, and pleural effusions  - Eye: keratoconjunctivitis sicca, scleritis, and episcleritis  - Endocrine and exocrine glands: secondary Sjögren syndrome- Hematological: anemia of chronic disease- Tenosynovitis and bursitis→ Carpal tunnel syndrome (entrapment neuropathy) → Tarsal tunnel syndrome- Heart: pericarditis and myocarditis; higher risk of myocardial infarction, stroke, and CHF  - Vascular: peripheral vasculitis manifesting as livedo reticularis, Raynaud phenomenon, purpura, necrosing fingertips or peripheral neuropathy Diagnostics:- ACR criteria for RA: Joint involvement (pain/swelling), Serology, Acute phase reactants, Duration of symptoms- Lab: CRP, ESR correlate with inflammatory activity, ↑ Ferritin, Possibly leukocytosis, thrombocytosis, Anemia of chronic disease- ACPA (e.g., anti-CCP) → Specificity > 90%  - Rheumatoid factor (RF): IgM autoantibodies against the Fc region of IgG→ Low specificity  - Antinuclear antibodies (ANA): elevated in 30% of cases  - Synovial fluid analysis:→ Cloudy yellow appearance→ Sterile specimen with leukocytosis (WBC: 5,000-50,000/μL)→ ↑ Neutrophils, granulocytes, and ragocytes, ↑ Proteins, ↓ viscosity→ Possibly rheumatoid factor Treatment:- Acute anti-inflammatory therapy: Glucocorticoids→ Osteoporosis prophylaxis with calcium and vitamin D is necessary if a daily dose of prednisolone or its equivalent > 7.5 mg over a period > 3 months.- Long-term anti-inflammatory therapy with disease-modifying antirheumatic drugs (DMARDs) → Slow onset of action (≥ 6 weeks), so symptomatic treatment with glucocorticoids and NSAIDs is often required→ Drug of choice: methotrexate (MTX)→ Alternative drugs: Leflunomide, Hydroxychloroquine, Sulfasalazine: for use in pregnancy→ Biologic therapy: (moderate or severe disease activity remaining after three months of DMARD therapy): TNF α inhibitors, rituximab, anakinra (interleukin-1 receptor antagonist)
• Gout Epidemiology:- Sex: ♂ > ♀ (3:1)  - Age of onset: 30-60 years- Higher incidence in African Americans Etiology:- Deposition of urate crystals into joints- Hyperuricemia predisposes to gout- Associations:→ Diabetes mellitus→ Hypertension→ Hypercholesterolemia, hypertriglyceridemia→ Anemia Decreased uric acid excretion (most common)- Medications (e.g., pyrazinamide, aspirin, loop diuretics, thiazides, niacin)- Chronic renal insufficiency; lead nephropathy - Ketoacidosis (e.g., due to starvation, diabetes mellitus) and lactic acidosis Increased uric acid production:- High cell turnover (e.g., tumor lysis syndrome, hemolytic anemia, psoriasis, myeloproliferative neoplasms, chemotherapy, or radiation)- Enzyme defects (e.g., Lesch-Nyhan syndrome, phosphoribosyl pyrophosphate synthetase overactivity, von Gierke disease)- High-protein diet  - Obesity   Combined decreased excretion and overproduction: high alcohol consumption   Clinical features:- Usually monoarticular during first attacks- Acute severe pain with overlying erythema, decreased range of motion, swelling, and warmth; possible fever- More likely to occur at night, typically waking the patient- Symptoms peak after 12-24 hours; regression may take days to weeks.- The recovering joint may present with desquamation of the overlying skin.- Locations: Peripheral small joints in the lower extremities are especially affected.  → Podagra: metatarsophalangeal joint (MTPJ) inflammation of the big toe is the most common site→ Gonagra: inflammation of the knee→ Chiragra: inflammation of finger joints, esp. metacarpophalangeal joint of the thumb→ Others: ankle and tarsus, other toe joints, wrist, elbow- Chronic gouty arthritis: Tophi formation and renal manifestations with uric acid nephrolithiasis and uric acid nephropathy Diagnostics:- Arthrocentesis→ Polarized light microscopy findings: needle-shaped, negatively birefringent monosodium urate crystals  → Synovial fluid: WBC > 2000/μL with > 50% neutrophils- Laboratory tests: ↑ Serum uric acid levels, Typical in acute attacks: ↑ WBC and ↑ ESR Treatment:- Acute gout attack→ NSAIDs (e.g., indomethacin, naproxen, ibuprofen)→ Colchicine: patients who cannot tolerate NSAIDs (e.g., patients with chronic kidney disease or gastrointestinal ulcers) or oral glucocorticoids→ Oral glucocorticoids (e.g., prednisolone): no response or contraindications to NSAIDs and colchicine. Intra-articular if single joint is affected.- Chronic gout → Weight loss (if applicable), Purine-restricted diet (e.g., low-protein diet), Reduce alcohol consumption, Sufficient/high fluid intake→ Close management of diabetes and blood pressure→ Consuming dairy products, vitamin C, and coffee can lower levels of uric acids and therefore prevent gout.→ Medical therapy if: ≥ 2 gout attacks per year, Uric acid nephropathy, Tophi development, Serum uric acid > 9 mg/dL
• Pseudogout (CPPD) Paroxysmal joint inflammation due to calcium pyrophosphate crystal deposition (calcium pyrophosphate dihydrate) Epidemiology:- Sex: ♂ = ♀- Age of onset: adults > 50 years of age Etiology:- Mostly idiopathic (primary form)- Secondary form: joint trauma, familial chondrocalcinosis, hyperparathyroidism, hemochromatosis, gout, hypophosphatemia   Clinical presentation:- Often asymptomatic  - Acute (pseudogout attack): monoarthritis (rarely oligoarthritis), mostly affecting the knees and other large joints (e.g., hips, wrists, and ankles)- May become chronic (can affect multiple joints)→ Osteoarthritis with CPPD (most common form of symptomatic CPPD): progressive joint degeneration with episodes of acute inflammatory arthritis typical of pseudogout attacks Diagnosis:- Arthrocentesis should be performed, especially in acute cases.→ Polarized light microscopy: detection of rhomboid-shaped, positively birefringent CPPD crystals→ Synovial fluid findings: 10,000-50,000 WBCs/μL with > 90% neutrophils- X-ray findings: cartilage calcification of the affected joint (chondrocalcinosis)  - Test for hypercalcemia (esp. hyperparathyroidism).- Serum uric acid levels are normal. Treatment:- Asymptomatic cases do not require treatment unless there is an underlying condition (e.g., hyperparathyroidism). - Symptomatic treatment (similar to gout):→ Best initial treatment: NSAIDs→ Alternatives: colchicine or intra-articular corticosteroids→ Arthroscopic lavage may also be considered→ Possible joint replacement
• Osteoarthritis Epidemiology:- Sex: ♀ > ♂, especially in patients older than 50 years  - Incidence rates in specific joints: knee > hip > hand Modifiable risk factors:- Obesity- Excessive joint loading or overuse Nonmodifiable risk factors:- Age (> 55 years)- Familial history- History of joint injury or trauma- Anatomic factors causing asymmetrical joint stress  - Hemophilic hemarthroses and deposition diseases that stiffen cartilage  - Gender Clinical features:- Pain on exertion, which is relieved with rest- Pain in both complete flexion and extension- Crepitus on joint movement- Joint stiffness and restricted range of motion- Radiating or referred pain (e.g., coxarthrosis may lead to knee pain)- Late clinical findings: Constant pain (including at night), Morning joint stiffness usually lasting < 30 minutes, More severely restricted range of motion- Heberden's nodes: Pain and nodular thickening on the dorsal sides of the distal interphalangeal joints (DIP), ♀ > ♂  - Bouchard's nodes: Pain and nodular thickening on the dorsal sides of the proximal interphalangeal joints (PIP), ♀ > ♂. - Hallux rigidus: Arthrosis of the first metatarsophalangeal joint (between the first metatarsal and the first proximalphalanx), characterized by hypertrophy of the sesamoid bones. Diagnostics:- Radiological signs of osteoarthritis1. Irregular joint space narrowing2. Subchondral sclerosis  3. Osteophytes (also: bone spurs)  4. Subchondral cysts   Treatment:- General: Weight loss, regular exercise, shoe inserts, physiotherapy, topical and heat therapy- Analgesics: Acetaminophen, NSAIDs- In severe courses: intraarticular glucocorticoid injections (not a long-term treatment!)  - Surgical therapy: if conservative and interventional measures fail → Endoprosthesis (joint replacement)
• Ankylosing spondylitis Epidemiology:- Sex: ♂ > ♀ (3:1)  - Age: 15-40 years Genetic predisposition: 90-95% of patients are HLA-B27 positive. Clinical features:- Most common presenting symptoms: back and neck pain→ Gradual onset of dull pain that progresses slowly→ Morning stiffness that improves with activity→ Pain is independent of positioning, also appears at night- Tenderness over the sacroiliac joints- Limited mobility of the spine (especially reduced forward lumbar flexion)- Inflammatory enthesitis (e.g., of the Achilles tendon, iliac crests, tibial tuberosities): painful on palpation- Dactylitis- Arthritis outside the spine: hip, shoulder, and knee joint  - Ophthalmological symptoms: acute, unilateral anterior uveitis (∼ 25% of cases)  - Gastrointestinal symptoms: associated with chronic inflammatory bowel disease (∼ 5-10% of cases)  - Prostatitis- Fatigue, weakness, fever, weight loss- Restrictive pulmonary disease due to decreased mobility of the spine and thorax- Cardiac: aortic valve insufficiency, atrioventricular blocks (rare)- Kidney: IgA-nephropathy (rare) Diagnostic approach:1. Physical examination, patient history, and pelvic x-ray: If results are conclusive, no additional testing is required!2. If inconclusive → HLA-B27 testing3. If still inconclusive → pelvic MRI Treatment:- Physical therapy- Medical therapy: NSAIDs (e.g., indomethacin)→ Additional options: Tumor necrosis factor-α inhibitors (e.g., etanercept) → In case of peripheral arthritis: DMARDs (especially sulfasalazine)→ In severe cases: temporary, intra-articular glucocorticoids- Surgery: in severe cases to improve quality of life
• Reactive arthritis Epidemiology:- Genetic predisposition and association with HLA-B27 - Commonly affects young men- HIV infection is associated with a higher risk of reactive arthritis. Etiology:- Post-urethritis: after infection with Chlamydia (common), Neisseria gonorrhea, or Ureaplasma urealyticum- Post-enteritis: after infection with Shigella, Yersinia, Salmonella, or Campylobacter Clinical features:- Latency period: 1-4 weeks- Polyarthritis:→ Acute onset→ Often asymmetrical with a migratory character→ Occurs predominantly in the lower extremities→ Sacroiliitis→ Enthesitis→ Dactylitis- Conjunctivitis or iritis- Oral ulcers- Dermatologic manifestations: skin lesions of the glans resembling psoriasis (balanitis circinata); hyperkeratinization of the palms and soles (keratoderma blenorrhagicum)   Diagnostics:- ↑ ESR and CRP- Test for potentially positive HLA-B27- Consider performing additional tests to confirm a preceding infection- Arthrocentesis: ↑ WBC count: 10,000-40,000/μL, mostly polymorphonuclear leukocytes predominate, Gram stain and cultures are negative Treatment:- First line: NSAIDs- Local treatment: cryotherapy and physiotherapy- If NSAIDs are not effective: glucocorticoids (intraarticular or oral)- In chronic cases: DMARDs, e.g., sulfasalazine or MTX
• Psoriatic arthritis Inflammation of joints (primarily on hands, feet, spine) that may occur with psoriasis- 5-30% of psoriasis patients affected Clinical features:- Psoriasis and psoriatic arthritis may occur independently or together  - Oligoarthritis (most common, accounting for 70% of cases): typically with involvement of both the distal and proximal interphalangeal joints  - Spinal involvement (up to 40% of cases)- Enthesitis- Tenosynovitis- Dactylitis: inflammation and swelling of fingers or toes (“sausage digit”)- Arthritis mutilans: destruction of the IP joints and resorption of the phalanges; causes the soft tissue of the fingers to collapse (“telescoping fingers” or “opera glass hand”)   Diagnosis:- The ClASsification Criteria for Psoriatic ARthritis (CASPAR) is helpful for diagnosing psoriatic arthritis (≥ 3 out of the 5 following points required). 1. Evidence of psoriasis  2. Psoriatic nail dystrophy3. Negative rheumatoid factor (RF)4. Dactylitis5. Radiologic signs- Imaging studies: joint destruction, ankylosis→ Fingers: pencil-in-cup deformity  → Spine: syndesmophytes, and in particular asymmetric paravertebral ossification   Treatment:- Mild disease: NSAIDs- Moderate to severe disease: disease-modifying antirheumatic drugs (DMARDs)  - Physical therapy
• Giant cell arteritis Epidemiology:- Sex: ♀ > ♂- Peak incidence: 70-79 years- Most common among individuals of northern European descent Etiology:- Genetic predisposition (e.g., human leukocyte antigen HLA-DR4)- Viral infections (e.g., parvovirus B19)- Association with polymyalgia rheumatica (PMR): 40-50% of patients with giant cell arteritis also have PMR. Clinical features:- Constitutional symptoms: Fever, weight loss, night sweats- Symptoms of anemia: fatigue and malaise- Symptoms of arterial inflammation: extracranial branches of the common carotid, internal carotid, and external carotid arteries (the temporal artery is the most commonly affected vessel)→ New-onset headache (can be pulse-synchronous, throbbing, dull); typically located over the temples→ Hardened and tender temporal artery  → Jaw claudication: jaw pain when chewing- Vision loss  → Scintillating scotoma→ Amaurosis fugax or permanent loss of vision  → Diplopia  - Symptoms of polymyalgia rheumatica (if both diseases are present) Diagnostics:- ACR criteria (3 of the 5 criteria are required)1. Age at disease onset ≥ 50 years2. Headaches3. Abnormalities of the temporal artery4. Elevated ESR (≥ 50 mm/h)5. Histopathological abnormalities in the temporal artery - Lab: ↑↑ ESR, specifically > 50 mm/h → can lead to Rouleaux formation of RBCs, Mild thrombocytosis, Normochromic anemia- No autoantibodies   Treatment:- Ischemic organ damage (e.g., impaired vision): high dose of IV glucocorticoids or oral glucocorticoids- Uncomplicated disease: medium dose of oral glucocorticoids- After symptoms have resolved (usually after 2-4 weeks), slowly taper glucocorticoids to the lowest dose that is needed to control symptoms (The mean duration of treatment is 1–2 years). - Low-dose aspirin to prevent ischemic complications- Tocilizumab (antagonizes IL-6 receptor) may be used to reduce the required dose of steroids Complications:- Permanent vision loss: ∼20-30% if giant cell arteritis is left untreated  - Cerebral ischemia (e.g., transient ischemic attack and stroke): < 2% of cases  - Aortic aneurysm and/or dissection: ∼10-20% of patients  
• Polyarteritis nodosa Systemic vasculitis of the small and medium-sized vessels, which leads to tissue ischemia; most commonly involving skin, peripheral nerves, muscles, joints, gastrointestinal tract, and kidneys Epidemiology:- Peak incidence: ∼45-65 years- Sex: ♂ > ♀- Often associated with hepatitis B or C infection Clinical features:- Nonspecific symptoms: fever, abdominal, muscle, and joint pain  - Renal involvement: hypertension, renal impairment- Coronary artery involvement; increased risk of myocardial infarction- Skin involvement: rash, ulcerations, nodules- Neurological involvement: polyneuropathy (mononeuritis multiplex), stroke- GI involvement: abdominal pain, melena, nausea, vomiting - Usually spares the lungs   Diagnostics:- Blood tests: Hepatitis B serology, Hepatitis C serology, ↑↑ ESR, Anemia, leukocytosis- ANCA-negative- Urine analysis: proteinuria, hematuria- Muscle biopsy: transmural inflammation of the arterial wall with leukocytic infiltration and fibrinoid necrosis  - Angiography: numerous small aneurysms and stenosis of small and medium-sized vessels of the involved organs (pulmonary arteries not usually affected)   Treatment:- Immunosuppression: corticosteroids, cyclophosphamide- Antiviral therapy against HBV and HCV may be required.
• Polymyalgia rheumatica Epidemiology:- Sex: ♀ > ♂ (2-3:1)- Peak incidence: 70-79 years; rarely seen in patients < 50 years- More common among individuals of northern European decent Etiology:- Genetic predisposition (e.g., human leukocyte antigen HLA-DR4)- Association with giant cell arteritis: 10-20% of patients with polymyalgia rheumatica also have GCA Clinical features:- Constitutional symptoms: fever, weight loss, night sweats- Fatigue and malaise- Depressed mood- Symptoms of anemia- Musculoskeletal symptoms: new onset, symmetric pain→ Shoulder and pelvic girdle, neck→ Worse at night→ Morning stiffness (> 45 min)→ Subjective weakness Diagnostics:- ↑↑ ESR, specifically > 50 mm/h, ↑ CRP, Leukocytosis, Normochromic anemia- Normal creatine kinase, negative rheumatoid factors and no autoantibodies  - Bursitis on ultrasound of affected joints Treatment:- Low-dose of oral glucocorticoids (alternative: IM glucocorticoids)- If symptoms improve (usually within 2-4 weeks): slowly taper and eventually stop glucocorticoids  - No improvement after 2 weeks or relapse: increase dose
• Fibromyalgia Epidemiology:- Prevalence: 2-3%  - Sex: ♀ > ♂ (2:1) - Peak incidence: 20-50 years (risk of occurrence increases with age) Clinical features:- Chronic, widespread pain, primarily at points where muscles and tendons attach to bone (tender points)- Headache- Fatigue- Morning stiffness- Unrefreshing sleep- Cognitive dysfunction (known as fibro fog)  - Paresthesias  - Further symptoms of autonomic dysfunction: digestive problems, weight fluctuation, palpitations, sexual dysfunction, night sweats Associations:- Functional somatic syndromes (e.g., chronic fatigue syndrome, irritable bowel syndrome, tension or migraine headaches, chronic pelvic and bladder syndromes)- Psychiatric disorders (depression, generalized anxiety disorder)- Sleep disorders (e.g., sleep movement disorders such as restless leg syndrome)- Inflammatory rheumatic diseases (e.g., systemic lupus erythematosus, rheumatoid arthritis) Diagnostics:- FM is a clinical diagnosis.  - The 2010 American College of Rheumatology (ACR) criteria take into account:→ Symptom duration of at least 3 months→ Widespread pain or tenderness in up to 19 different regions of the body (widespread pain index; WPI)→ Presence and severity of symptoms such as fatigue, sleep disturbance, depression, headache, and cognitive impairment (symptom severity scale)- Laboratory values and imaging findings are normal (helpful for excluding other causes or comorbidities). Treatment:- Patient education: Explain that the condition, though painful, is benign, and recommend coping strategies such as relaxation exercises.- Lifestyle changes: dietary recommendations, sleep hygiene, regular physical activity- Medication:→ Initially monotherapy: low-dose tricyclic antidepressants (TCA, e.g., amitriptyline), selective serotonin-norepinephrine reuptake inhibitors (e.g., duloxetine), or anticonvulsants (e.g., pregabalin, gabapentin)→ Avoid narcotic medications (e.g., opioids) → Consider comorbidities (e.g., sleep disorders) in treatment planning
• Polymyositis and dermatomyositis Etiology:- Polymyositis (PM): cell-mediated cytotoxicity against unidentified skeletal muscle antigens, chiefly affecting the endomysium- Dermatomyositis (DM): idiopathic or paraneoplastic antibody-mediated vasculopathy, associated with malignancies (non-Hodgkin lymphoma; lung, stomach, colorectal, or ovarian cancer) Clinical features:- Proximal muscle weakness affecting both sides of the body (progresses within weeks to months)→ The pelvic and shoulder girdle muscles are most commonly affected. Other muscles, e.g., the neck flexors, may also be affected. → Leads to difficulties combing hair, standing up, and climbing stairs→ Dysphagia is present in approx. 30% of patients because of esophageal muscle involvement. - Muscle tenderness in approx. 33% of cases Cutaneous manifestations of DM:- Gottron papules→ Prominent erythematous papules, symmetrically distributed on the extensor surface of the hands→ Most often affects the MCP and interphalangeal joints- Heliotrope rash: erythematous rash on the upper eyelids, sometimes accompanied by edema- Midfacial erythema  - Photosensitive poikiloderma:  → Shawl sign: erythema of the upper back, posterior neck, and shoulders→ V sign: erythema of the upper chest and neck→ Holster sign: erythema of the lateral thighs Diagnostics:- Muscle enzymes: ↑ CK and ↑ aldolase- ↑ ESR, ↑ CRP, leukocytosis, γ-globulin in protein electrophoresis- Antibodies→ Antinuclear antibody (ANA)  → Anti-Jo-1 antibodies (∼ 5% DM, 30% PM): especially in patients with interstitial lung disease; responds poorly to treatment→ Anti-Mi-2 antibodies (∼ 10% of cases): more favorable prognosis→ Anti-signal recognition particle antibodies (anti-SRP): associated with a severe treatment-resistant necrotizing myopathy; typically in patients with PM  Treatment:- Drug of choice: corticosteroids (e.g., prednisolone)- Patients who do not tolerate or do not respond to corticosteroids:→ Immunosuppressants: e.g., methotrexate and cyclosporin  → IV immunoglobulins  → Plasmapheresis   Complications:- Respiratory failure  - Myocarditis  - Esophageal disease  - Dystrophic calcinosis (common in juvenile dermatomyositis) - Electromyogram (EMG) suggestive of inflammatory myopathy- Typical biopsy findings- DM is diagnosed if additional cutaneous manifestations are present.
• Systemic sclerosis Epidemiology:- ♀ > ♂ (3:1)- Higher incidence in African Americans- Peak incidence: 30-50 years Clinical features:- Thickening and hardening of the skin (skin appears smooth and shiny)- Depigmentation of the skin with sparing of perifollicular pigmentation (salt-and-pepper appearance)- Sclerodactyly  → Red-blue discoloration of the fingers→ Edema and fibrosis with waxy appearance of the skin and limited range of motion→ Atrophy and necrotic spots→ Lesions on the proximal nail fold- Multiple, painful ischemic digital ulcers- Loss of expression (mask-like facies)- Shortened frenulum- Microstomia accompanied with characteristic perioral wrinkles- Raynaud's phenomenon- Thromboembolism- Fatigue, weakness- Joint stiffness/pain   Limited cutaneous systemic sclerosis:- In 90% of cases, Raynaud's phenomenon precedes the onset of other symptoms.- Skin manifestations are usually restricted to the hands, fingers, and face.- Extracutaneous organ involvement may occur.- Often manifests as CREST syndromeC → Calcinosis cutis (small white calcium deposits on the pressure points of the extremities such as the elbows, knees, and fingertips)R → Raynaud's phenomenonE → Esophageal hypomotility (esophageal dysmotility, gastroesophageal reflux, heartburn, dysphagia, which is caused by smooth muscle atrophy and fibrosis)S → Sclerodactyly  T → Telangiectasia   Diffuse cutaneous systemic sclerosis:- Raynaud's phenomenon often coincides with or follows the onset of other symptoms.- Skin manifestations typically spread proximally from the trunk to the elbow.- Arthralgia and myalgia → can result in contractures- Esophageal dysmotility → dysphagia and reflux- Small bowel dysmotility → bloating, gas, constipation, and cramping  - Pulmonary disease: pulmonary hypertension and interstitial lung disease, increased risk of lung cancer  - Cardiac disease: fibrosis, myocarditis, pericarditis- Renal disease: abnormal collagen deposition → thickening of renal arteriolar walls → decreased renal blood flow → reduced kidney function- Scleroderma renal crisis:→ Occurs in 10-15% of cases of diffuse SSc  → Life-threatening complication → Oliguric renal failure→ (Malignant) hypertension→ Encephalopathy→ Microangiopathic hemolytic anemia→ Treatment: ACE inhibitors Diagnostics:- Auto-antibodies: Antinuclear antibodies (ANA) present in about 90% of cases- Limited SSc: anticentromere antibodies (ACA)  - Diffuse SSc:→ Anti-Scl-70 (anti-topoisomerase I antibody)  → Anti-RNA polymerase III  - Serum protein electrophoresis: ↑ γ-globulins Treatment:- Physical therapy, massage- Prevent dry skin: Warm oil and paraffin baths, avoid soap- Phototherapy- Immunosuppressive therapy: e.g., methotrexate- Organ-specific therapy: e.g., PPIs in cases of gastroesophageal reflux disease
• Rotator cuff tendinitis Subacromial bursitis with peritendinitis of the rotator cuff; usually seen as a progression of subacromial impingement syndrome Clinical features:- Pain on movement which is worsened by overhead activities.- Nocturnal exacerbation of pain, especially when lying on the affected shoulder- Movement restriction depending on the muscle involved- Most common symptoms are due to supraspinatus injury or subacromial bursitis→ Painful arc → pain-related restriction of movement and strength with abduction of the arm between 60–120°- Subacromial tenderness on palpation- Possibly atrophy of the supraspinatus and infraspinatus muscles   Complication: rotator cuff tear
• Calcium and vitamin D intake for women age >50 Calcium: 1200 mg- Sources: Milk, yogurt, dark green leafy vegetables Vitamin D: 600-800 IU- Fortified milk, fatty fish, sunlight (~15 minutes 2x/week)
• Postmenopausal osteoporosis Diagnosis:- Osteopenia: T-score on DXA between -1 & -2.5- Osteoporosis: T-score on DXA ≤ 2.5 or confirmed osteoporotic fracture Initial evaluation:- Serum chemistry panel- Complete blood count- Serum 25-hydroxyvitamin D Lifestyle therapy:- Avoid smoking & excessive alcohol- Regular weight-bearing exercise- Total intake (diet + supplement): calcium ≥ 1200 mg/day, vitamin D ≥ 800 IU/day Pharmacologic therapy:- Indicated for osteoporosis or high-risk osteopenia*- First-line: oral bisphosphonates
• FRAX assessment tool The FRAX risk calculator is an online assessment tool developed by the World Health Organization to estimate the 10-year risk of fracture in patients with osteopenia/osteoporosis.  The following variables are included in estimating fracture risk:- Age- Sex- Weight- Height- Previous fracture history- Smoking status- Glucocorticoid use- Rheumatoid arthritis history- Secondary causes of osteoporosis- Alcohol use- Bone mineral density at the femoral neck
• Scaphoid fracture Clinical features:- History of falling onto the outstretched hand with a hyperextended and radially deviated wrist.  - Pain when applying pressure to the anatomical snuffbox and scaphoid tubercle  - Minimal reduction in the range of motion (except in dislocated fractures)- Decreased grip strength- Painful pinching and grasping Diagnostics: - Best initial test: X-ray of the wrist in a posteroanterior, lateral, 45° oblique, and possibly scaphoid view→ ∼ 25% of scaphoid bone fractures are initially undetectable by x-ray Treatment:- Pain management: over-the-counter analgesics  - Nondisplaced fractures or displaced fractures < 1 mm: wrist immobilization via thumb spica cast for a minimum of 6-8 weeks- Surgical treatment: Usually internal fixation Complications: Nonunion and avascular necrosis
• Paget disease of the bone Epidemiology:- Second most prevalent skeletal disease after osteoporosis  - Sex: ♂ > ♀ (1.2:1)- Age of onset: > 55 years   Pathophysiology:Bone remodeling in Paget disease occurs in three phases: 1. Lytic phase: increased number of osteoclasts, which are larger than usual and have more than the usual number of nuclei, appear in bone → increased osteoclastic activity → increased rate of bone resorption2. Mixed lytic and blastic phase: increased osteoclastic activity is accompanied by an increased number of osteoblasts, which retain a normal morphology → increased rate of bone formation with haphazardly laid collagen fibers → abnormal woven bone that is hypervascular  3. Sclerotic phase (quiescent phase): Osteoclastic activity and osteoblastic activity eventually cease. Clinical features:- Approximately 70-90% of cases are asymptomatic.  - Bone pain, which may be associated with erythema and elevated skin temperature over the affected bones  - Bony deformities; e.g., bowing of legs (saber shin)  - Skull involvement (in ∼ 40% of cases)→ Skull enlargement (increasing hat size)→ Cranial nerve deficits→ Impaired hearing  → Headache- Pathological fractures: Chalk-stick fractures of long bones  Diagnostics:- Laboratory tests: Normal calcium, phosphate, and parathyroid hormone (PTH) levels, ↑↑ Serum alkaline phosphatase (ALP)- ↑ Markers of collagen degradation (in urine): deoxypyridinoline, N-telopeptide, C-telopeptide, hydroxyproline  - Hyperuricemia  - Conventional x-ray: Deformed bones with both sclerotic and osteolytic lesions, thickened cortical bone Treatment:- Medical therapy:→ First-line: bisphosphonates→ Second-line: calcitonin therapy  - Supportive therapy→ Vitamin D3 (cholecalciferol) and calcium→ NSAIDs may be used in addition to bisphosphonates to treat pain
• Osteopetrosis Osteopetrosis is an inherited, diffuse bone disease that results in increased sclerotic appearance of the skeleton on radiological examination (from Latin: "petrosus" = stony) Type I osteopetrosis (malignant osteopetrosis)- Age of onset: infancy- Clinical course: severe   Type II osteopetrosis (benign osteopetrosis, Albers-Schonberg disease)- Age of onset: early adulthood- Clinical course: mild Pathophysiology: impaired osteoclastic resorption of bone with preserved osteoblastic function Clinical features:- Pathological fractures  - Cranial nerve disorders  - Pancytopenia  - Hepatosplenomegaly   Diagnostics:- Imaging (X-ray): homogenous, marbled thickening of both cortical and trabecular bone- Laboratory findings: Hypocalcemia, ↑ Tartrate-resistant acid phosphatase (TRAP) Treatmetn:- Bone marrow transplantation may be successful in the case of pancytopenia.
• Stress fracture Complete bone fracture caused by repetitive stress without underlying bone pathology or disease affecting the bone Etiology: Increased load or frequency of physical activity can facilitate bone resorption.   Risk factors:- Repetitive high intensity physical activity  - Improper technique during physical activity- Caloric restriction, especially in patients with anorexia nervosa- Decreased bone density (e.g., bisphosphonates use)- Calcium deficiencies- Female sex Clinical features:- Most common in the lower extremities (metatarsals, also the tibia, fibula, and navicular bones)- Acute pain with activity (worsens with loading or stress, relieved with rest)  - Bone tenderness, erythema, or soft tissue swelling Diagnosis: Clinical diagnosis- Conventional x-rays can appear normal in the first 2-3 weeks.  - MRI for definitive diagnosis: detects fracture line, surrounding tissue damage, and edema   Treatment:- Pain control: acetaminophen, ice packs  - Rest, physical therapy, and risk factor modification (improved nutrition, calcium, and vitamin D supplementation)- Surgery in refractory cases
• Risk factors for postoperative pulmonary complications Complete bone fracture caused by repetitive stress without underlying bone pathology or disease affecting the bone Etiology: Increased load or frequency of physical activity can facilitate bone resorption.   Risk factors:- Repetitive high intensity physical activity  - Improper technique during physical activity- Caloric restriction, especially in patients with anorexia nervosa- Decreased bone density (e.g., bisphosphonates use)- Calcium deficiencies- Female sex Clinical features:- Most common in the lower extremities (metatarsals, also the tibia, fibula, and navicular bones)- Acute pain with activity (worsens with loading or stress, relieved with rest)  - Bone tenderness, erythema, or soft tissue swelling Diagnosis: Clinical diagnosis- Conventional x-rays can appear normal in the first 2-3 weeks.  - MRI for definitive diagnosis: detects fracture line, surrounding tissue damage, and edema   Treatment:- Pain control: acetaminophen, ice packs  - Rest, physical therapy, and risk factor modification (improved nutrition, calcium, and vitamin D supplementation)- Surgery in refractory cases
• Idiopathic scoliosis Deformity of the spine occurring during growth, characterized by a lateral curvature (Cobb angle > 10°) and simultaneous rotation of the vertebrae. Clinical features:- Evaluation of the spinal shape from the back of the head to the intergluteal cleft  Adam's forward bend test (most important clinical test) may show:→ Thoracic rotation ("rib hump")→ Lumbar rotation ("lumbar hump")→ Asymmetry of the waistline, leg length discrepancy→ Asymmetry of the shoulder girdles, protrusion of the scapulae→ Assessment of severity based on scoliometer measurements  - Respiratory and cardiopulmonary impairment in cases of severe thoracic deformity→ Dyspnea, difficulty breathing (thoracic restriction)→ Cor pulmonale with right heart failure as a late sequela  - Pain occurs secondary to degeneration, compression, or irritation of spinal discs and nerves.   Diagnostics:- Conventional x-ray Treatment:- Cobb angle < 10°: per definition not scoliosis, and therefore not monitored- Cobb angle 10-19°: continual monitoring for progression- Cobb angle 20-29°: monitoring or bracing- Cobb angle 30-39°: bracing- Cobb angle > 40° or rapidly progressing scoliosis: surgery
• Slipped capital femoral epiphysis Epidemiology:- Most common hip disorder in adolescents- Peak incidence: 10-16 years (often occurs during a growth spurt)- Sex: ♂ > ♀ Risk factors:- Obesity- Family history- Endocrine or hormonal factors (e.g., hypothyroidism, pituitary tumors, down syndrome, renal osteodystrophy, craniopharyngioma)  - Trauma (e.g., sports-related injury or fall) Clinical features:- Acute, chronic (3 weeks to several months), or acute on chronic (chronic with acute exacerbations) onset- Dull pain in the medial thigh, knee, groin, or hip pain (often left > right)- Sudden limp  - Restricted range of motion:→ Reduced internal rotation and abduction→ Patients may hold their hip in passive external rotation→ Drehmann sign positive: external rotation and abduction during passive flexion of the affected hip in supine position- Bilateral in ∼ 40% of cases   Diagnostics:- Confirmatory test: x-ray Treatment:- Avoid weight bearing before stabilization- Urgent surgical internal fixation with pinning of the femoral head- Prophylactic fixation of the contralateral hip  
• Supracondylar fracture Clinical features:- Fall onto outstretched arm- Pain, swelling, limited range of motion Diagnostic findings:- X-ray with posterior fat pad (occult), fracture line, or displacement of humerus Treatment:- Nondisplaced: long arm splint & sling- Displaced: surgical reduction & pinning Complications:- Neurovascular injury- Compartment syndrome
• Osteonecrosis of the femoral head Peak incidence: 20-40 years Atraumatic factors:- Glucocorticoid use (35-40% of cases) - Alcohol (20-40% of cases) - Smoking- Hemoglobinopathies (e.g., sickle cell disease)- Radiation- Myeloproliferative disorders- Autoimmune diseases (e.g., SLE, antiphospholipid syndrome)- Hyperuricemia, hyperlipoproteinemia, diabetes mellitus- Gaucher disease: Bone marrow analysis shows Gaucher cells Traumatic factors:- Lateral or medial femoral neck fractures, particularly with dislocation- Femoral head fractures Clinical features:- Slowly progressive groin pain, which may radiate to the knee or ipsilateral buttock  - Limited active and passive range of motion at the hip  - Bilateral in 50% of cases Diagnostics:- X-ray (best initial test)  → Cystic and sclerotic changes in the femoral head→ Subchondral collapse→ Flattening of the femoral head- MRI (best confirmatory test): used to the visualize necrotic-viable bone interface Treatment:- No known curative treatment- Reduce risk factors (smoking cessation, alcohol abstinence, reduce corticosteroid use if possible)- Conservative treatment: indicated in early stages of disease to the reduce risk of femoral head collapse→ Decreased weight bearing→ Statins and bisphosphonates- Surgery: indicated in later stages of disease when bone structure is compromised  
• Frozen shoulder (adhesive capsulitis) Definition: inflammation and fibrosis of the joint capsule leading to contracture of the shoulder joint Clinical features:- Severe restriction of both active and passive range of movement of the glenohumeral joint in all planes (especially external rotation)- Dull shoulder pain Self-limiting course; however, improvement may take more than a year
• Raynaud phenomenon Primary RP (also called Raynaud disease): Idiopathic genesis- Onset usually < 30 years of age Secondary RP (also called Raynaud syndrome): - Drugs: beta-blockers, ergotamine, bleomycin- Smoking- Occupational trauma: from handling vibrating tools, typing- Hyperviscocity: polycythemia, paraproteinemias (plasmacytoma, Waldenstrom's disease), cryoglobulinemia, cold agglutinin disease- Vasculitides: e.g., Buerger's disease- Connective tissue diseases: e.g., scleroderma, systemic lupus erythematosus, mixed connective tissue disease, Sjögren's syndrome- Arterial disease: e.g., peripheral artery disease- Frostbite- Neurological disease: e.g., carpal tunnel syndrome, intervertebral disc disease- Pulmonary hypertension- Onset usually ≥ 30 years of age Diagnostics:- Bedside test: Allen test (rules out isolated occlusion of the radial and ulnar arteries as a differential diagnosis)- Nailfold capillary microscopy→ Primary RP: normal capillaroscopic pattern→ Secondary RP: abnormal capillaroscopic pattern- Laboratory tests→ All values typically normal in primary RP→ In suspected secondary RP, analyses should focus on diagnosis of underlying diseases: Abnormal CBC, Abnormal plasma viscosity, ↑ Infection parameters (CRP, ESR), ↑ Antibody serology: e.g., antinuclear antibody (ANA) Treatment:- Avoid triggers: dampness, cold, emotional stress  - Stop smoking  - Adjust medication (discontinue drugs that may cause attacks: e.g., beta-blockers, ergotamine, oral contraceptives)- Medical therapy→ First‑line: calcium channel blockers; the drug of choice is nifedipine administered orally  → Second‑line: Topical agents to increase perfusion (e.g., topical nitroglycerin), Off-label therapy with vasoactive agents
• Poor prognostic factors in low back pain Patient history:- Advanced age- Poor baseline functional status- Severe self-rated pain & mood symptoms Psychosocial factors:- Psychiatric comorbidity (eg, depression, anxiety)- Maladaptive pain behaviors (eg, catastrophizing, avoidant behaviors)- Poor recovery expectations Medical management:- Prolonged bed rest- Opioid therapy
• Dupuytren's contracture Epidemiology:- Prevalence: 4-6%  - Peak incidence: 40-60 years  - Sex: ♂ > ♀   Risk factors: - Cigarette smoking- Recurrent trauma (e.g., use of pneumatic tools used in construction, manual labor)- Diabetes- Alcohol abuse- Liver cirrhosis- Autoimmunity Clinical features:- The 4th and 5th fingers are most commonly involved  - Skin puckering near the proximal flexor crease: earliest sign  - Palmar nodule  - Palmar cords  - Flexion contracture of affected finger/s  - Signs of aggressive disease: Knuckle pads (Garrod nodes); Plantar fibromatosis (Ledderhose disease)  - Peyronie disease   Diagnostics:- Usually clinical- Ultrasound of the palm can demonstrate nodules and cords of the palmar fascia  - Fasting blood sugar level   Treatment:- Conservative therapy: Indicated in patients with early disease (skin puckering; nodules) and no functional disability.→ Observation  → Physiotherapy  → Hand splint/brace  - Intralesional injections: Indicated in patients with rapidly progressing disease or painful nodules→ Corticosteroids (triamcinolone)  → Collagenase  - Surgery: Indicated in patients with functional disability due to contractures→ Fasciotomy  → Fasciectomy  
• Clinical features of meniscus & knee ligament injuries Meniscus- Acute or subacute symptoms- Small effusion- Locking sensation with extension- Inability to fully extend- Joint line tenderness- Positive McMurray test Cruciate ligaments- Acute "pop" with rapid-onset, large effusion/hemarthrosis- Anterior cruciate: anterior drawer & Lachman tests- Posterior cruciate (uncommon): posterior drawer test Collateral ligaments- Effusion uncommon- Medial collateral: instability with lateral movement, valgus laxity- Lateral collateral: instability with medial movement, varus laxity
• Secondary causes of osteoporosis Endocrine- Hyperthyroidism- Hyperparathyroidism- Hypercortisolism- Hypogonadism Metabolic/nutritional- Calcium &/or vitamin D deficiency- Eating disorders Gastrointestinal/hepatic- Malabsorption (eg, celiac disease, Crohn disease)- Chronic liver disease Renal- Chronic kidney disease- Renal tubular acidosis Medications- Glucocorticoids- Phenytoin, carbamazepine- Proton pump inhibitors Other- Inflammatory disorders (e.g., rheumatoid arthritis)- Multiple myeloma- Alcoholism- Immobilization
• Patellofemoral pain syndrome (runner's knee) Epidemiology:- One of the most common causes of anterior knee pain- Common in young athletes- ♀ > ♂ Etiology:- Overuse- Malalignment of the knee joint Clinical features:- Retropatellar or peripatellar pain that worsens with activity or after periods of prolonged sitting- Crepitus when knee is flexed Diagnostics:- Clinical diagnosis- X-ray in case of findings that suggest an alternative diagnosis to exclude other pathologies: e.g., osteoarthritis, patellar fracture, or osteochondritis Treatment:- RICE protocol- NSAIDs- Physical therapy (e.g., quadriceps strengthening)- Weight loss- Switching to low-impact activities (e.g., biking, swimming)- Insoles- Surgery: only in severe cases
• Bursitis Etiology:- Local trauma: fall on the joint, overuse injury (e.g., excessive kneeling or leaning on the elbows for long period of time while working at a desk)- Systemic diseases (e.g., rheumatoid arthritis, gout)- Infection Main types/localizations:- Olecranon bursitis: inflammation of the bursa of the elbow joint that is often caused by leaning on the elbow for long periods of time- Subacromial bursitis: inflammation of the bursa located between the acromion and deltoid muscle (superiorly) and the head of the humerus (inferiorly) that is often caused by repetitive overhead motion  - Prepatellar bursitis: inflammation of the prepatellar bursa located between the skin and the patella that is most commonly caused by chronic strain on flexed knees (also referred to as “housemaid's knee”) or repeated trauma (e.g., falling on the knee)- Pes anserine bursitis: inflammation of the bursa of the inner knee that is often caused by stress due to conditions such as obesity and degenerative joint disease   Clinical features: local joint swelling, erythema, warmth, and limited range of motion due to pain Diagnostics:- Usually, clinical diagnosis is sufficient.- Aspiration of superficial bursas to rule out infection or gout- X-ray may be considered to exclude bone involvement if suspected. Complications: septic (purulent) bursitis, usually caused by S. aureus Treatment:- Rest, ice or heat, elevation, and NSAIDs- Antibiotics if septic  - Operative measures may become necessary (e.g., drainage of pus, bursectomy) for recurrent bursitis that fails to respond to conservative management.

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