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Rheumatology: A Comprehensive Review of Rheumatic Diseases

This course covers the basic sciences, etiology, risk factors, pathophysiology, epidemiology, clinical presentation, diagnostic tests, and treatment for osteoarthritis, rheumatoid arthritis, SLE, seronegative spondyloarthropathies, and crystal arthropathies.

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Rheumatology: A Comprehensive Review of Rheumatic Diseases

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  1. Rheumatology For Phase 2 Katie Knappett Phase 3B The Peer Teaching Society is not liable for false or misleading information…

  2. Aims • Go over basic sciences from Phase 1 • Aetiology / Risk Factors • Pathophysiology • Epidemiology • Clinical Presentation • Diagnostic Tests • Treatment The Peer Teaching Society is not liable for false or misleading information…

  3. Conditions • Osteoarthritis • Rheumatoid Arthritis • SLE • Seronegative Spondyloarthropathies • Crystal Arthropathies The Peer Teaching Society is not liable for false or misleading information…

  4. “Rheumatology” Rheumatic diseases: • Joints • Connective Tissues • Immunology The Peer Teaching Society is not liable for false or misleading information…

  5. Joint Pain The Peer Teaching Society is not liable for false or misleading information…

  6. Synovial Joints The Peer Teaching Society is not liable for false or misleading information…

  7. Osteoarthritis • Most common type of arthritis • Age-related; degenerative • Synovial joints affected • Epidemiology • Prevalence increased with age. Uncommon <45 • Familial The Peer Teaching Society is not liable for false or misleading information…

  8. Risk Factors for OA • Age • Sex (F>M) • Genetic predisposition (polyarticular) • Obesity • Local factors • Abnormal biomechanics • Occupation (farming, footballer…) The Peer Teaching Society is not liable for false or misleading information…

  9. Pathogenesis of OA • There is a difference between structural OA and symptomatic OA The Peer Teaching Society is not liable for false or misleading information…

  10. Clinical Features of OA Symptoms • Joint pain • Stiffness • Gelling • Instability • Loss of function • Worse in evening Signs • Tenderness • Swelling • Limited ROM • Crepitus • Joint instability • Bony swelling (Heberden’s Nodes, DIPJ) • Muscle wasting • Altered gait The Peer Teaching Society is not liable for false or misleading information…

  11. The Peer Teaching Society is not liable for false or misleading information…

  12. Investigations • Bloods – ESR normal, hsCRP may be raised. RF and ANA negative. • X-Rays – abnormal only when advanced • MRI – subchondral bone changes, early cartilage injury • Arthroscopy • Aspiration of synovial fluid – viscous fluid with few leucocytes The Peer Teaching Society is not liable for false or misleading information…

  13. OA X-Ray shows LOSS Loss of joint space Osteophyte formation Subchondral cysts Subarticular sclerosis The Peer Teaching Society is not liable for false or misleading information…

  14. Management of OA Non-Pharmacological Surgical • Low impact activity • Weight loss • Physiotherapy • Joint Replacement Pharmacological • Analgesia • Regular Paracetamol (1g QDS) • NSAIDs PRN (+PPI if regular) The Peer Teaching Society is not liable for false or misleading information…

  15. Rheumatoid Arthritis • Inflammatory • Autoimmune disease • Chronic symmetrical, deforming, polyarthritis of synovial joints • Systemic involvement • Typically female patients aged 30-50 The Peer Teaching Society is not liable for false or misleading information…

  16. Risk Factors for RA • Female sex • Genetic predisposition • Smoking The Peer Teaching Society is not liable for false or misleading information…

  17. Pathophysiology of RA • Widespread persistent synovitis • Synovial hypertrophy • Synovial proliferation • Inflammatory infiltration • “Pannus” of inflamed synovium • Damages underlying articular cartilage by blocking nutrition / direct cytokine effect • Cartilage becomes thinned & bone is exposed The Peer Teaching Society is not liable for false or misleading information…

  18. Clinical Features of RA Slowly progressive, symmetrical, peripheral polyarthritis evolving over weeks – months. • Symptoms • Pain & Stiffness typically in the morning • Tiredness • Systemically unwell • Disturbed sleep • Signs • Inflammation • Redness • Heat • Swelling • Pain • Limited ROM • Muscle wasting • Deformities The Peer Teaching Society is not liable for false or misleading information…

  19. Deformities in RA Boutonniere & Swan neck deformities Ulnar Deviation Z Thumb Joint Subluxation (wrist/MCPJ) Muscle Wasting The Peer Teaching Society is not liable for false or misleading information…

  20. The Peer Teaching Society is not liable for false or misleading information…

  21. Rheumatoid Nodules • Subcutaneous nodules • Firm, intradermal • Occur over pressure points (elbows, finger joints, Achilles tendon) The Peer Teaching Society is not liable for false or misleading information…

  22. Necrotic centre Ring of macrophages and fibroblasts Cuff of connective tissue containing lymphocytes and plasma cells

  23. Extra-Articular Features of RA • RA is a SYSTEMIC disease The Peer Teaching Society is not liable for false or misleading information…

  24. Investigations • Bloods • Raised ESR • Normocytic anaemia • RF may be negative at the start, becoming positive in 80% • ANA +ve in 30% • Anti-CCP • X-rays • Decreased joint space • Bony erosions • Subluxation • Carpal destruction The Peer Teaching Society is not liable for false or misleading information…

  25. Management of RA Non-Pharmacological Pharmacological • Regular exercise • Physiotherapy • Occupational therapy • Orthotics (e.g. wrist splint) • NSAIDs • Ibuprofen • Consider COX II selective if needing max doses (e.g. Celecoxib) • PPI cover • Steroids • Intra-articular • Systemic • DMARDS Surgical • Joint replacement • Pain relief, improve function The Peer Teaching Society is not liable for false or misleading information…

  26. Disease-Modifying Drugs (DMARDs) • Problem: Inflammation • Solution : Stop the inflammation! SulfasalazineMethotrexate Ciclosporin Gold Azathioprine Penicillamine Hydroxychloroquine • Biologics: • Anti-cytokine treatments • Infliximab (anti -TNF-α antibody) • Etanercept (TNF-α receptor blocker) The Peer Teaching Society is not liable for false or misleading information…

  27. RA vs OA The Peer Teaching Society is not liable for false or misleading information…

  28. RA vs OA The Peer Teaching Society is not liable for false or misleading information…

  29. Systemic Lupus Erythmatosus • Inflammatory multisystem disorder • Autoantibody (ANA) • Deposition of immune complexes Most common Sx – rash & arthralgia Most serious Sx – renal & cerebral involvement The Peer Teaching Society is not liable for false or misleading information…

  30. SLE Epidemiology • Afro-Caribbean / Asian ethnicity • Female: Male ratio is 9:1 • Peak age onset 20-40 The Peer Teaching Society is not liable for false or misleading information…

  31. SLE Aetiology • ? Cause • Predisposing Factors • Genetics (HLA A1, B8, DR3; Complement deficiencies, Family history) • Sex Hormone Status (Premenopausal women, XXY, HRT can cause flare up) • Drugs (hydralazine, isoniazid, penicillmine can cause mild SLE) • EBV ?trigger for SLE The Peer Teaching Society is not liable for false or misleading information…

  32. SLE Pathophysiology • Cells die by apoptosis; self-antigens presented to immune system for phagocytosis • Antibodies to these self-antigens are produced • Immune system fails to inactivate B and T cells responding to these self-antigens • Autoantibody production • Complement activation • Neutrophil influx • Inflammation • Abnormal cytokine production The Peer Teaching Society is not liable for false or misleading information…

  33. SLE Pathology • Skin/Kidneys • Deposition of complement and IgG antibodies • ↑ neutrophils and lymphocytes • Vasculitis • Joints • Immune complexes deposited in synovium The Peer Teaching Society is not liable for false or misleading information…

  34. SLE Clinical Features - Great variety! - Most patients: fatigue, arthralgia, skin involvement - Major organ involvement is less common, but more serious SKIN >85% of cases “Butterfly” erythema Photosensitivity Malar/Discoid rash Livedoreticularis Raynaud’s Alopecia HEART/CVS 25% of cases Pericarditis Pericardial effusions Myocarditis Cardiomyopathy ↑IHD/Stroke Antiphospholipid syndrome JOINTS/MUSCLES >90% have joint involvement Like RA – symmetrical small joints Painful but clinically normal Deformity is RARE LUNGS >50% of cases Recurrent pleurisy Pleural effusions Pneumonitis Pulmonary fibrosis Intrapulmonary haemorrhage (vasculitis) KIDNEYS 30% of cases Lupus Nephritis Glomerulonephritis NERVOUS SYSTEM 60% of cases Depression Severe psychiatric disturbance Epilepsy Migraines The Peer Teaching Society is not liable for false or misleading information…

  35. SLE Clinical Features O R D E R H I S A N A Oral ulcers Rash (malar) Discoid rash Eye involvement Renal disorders / recurrent abortion Haematological Immunological Serositis Arthritis Neurological involvement Alopecia • Diagnostic Criteria • Malar (butterfly) rash • Discoid rash • Photosensitivity • Oral ulcers • Arthritis • Serositis(pleutiris / pericarditis) • Renal disorders (persistent proteinuria) • CNS disorders (seizures / psychosis) • Haematological disorders (haemolytic anaemia, leukopenia, lymphopenia, thrombocytopenia) • Immunological disorders (Antiphospholipid antibody, anti-DNA antibody, anti-SM antibody) • Antinuclear antibody positive in 95% The Peer Teaching Society is not liable for false or misleading information…

  36. SLE Investigations Routine Bloods Low WCC (neutophils and lymphocyres) Low platelets Normocytic anaemia/ Haemolytic anaemia Raised ESR Normal CRP Raised Urea and Creatinine in renal involvement Autoantibodies ANA Anti-dsDNA Anti-Ro Anti-La Anti-SM Antiphospholipid antibodies (in APS) Complement ↓ C3 and C4 Histology Skin/Renal biopsy – deposition of IgG and complement complexes Imaging CT Head – infartcs/ Haemorrhage/ cerebral atrophy The Peer Teaching Society is not liable for false or misleading information…

  37. Management of SLE • Avoidance of sunlight / sunblock • Reduce CV Risk factors • Rheum referral Non-Pharmacological Pharmacological • NSAIDs for arthralgia, serositis • Hydroxychloroquine for joint/skin problems if NSAIDs insufficient. • High dose prednisolone for severe episodes. Other immunosuppresives/steroid sparing agents (cyclophosphamide, azathioprine, methotrexate) can be used. • Longterm anticoagulant in APS Surgical • Renal transplant The Peer Teaching Society is not liable for false or misleading information…

  38. Prognosis of SLE • Episodic relapsing/remitting course • 10 year survival 90% • Deaths <age 50 usually due to cerebral/renal involvement, or infection • >50, deaths due to stroke / CAD • Increased lymphoma risk • Fertility usually normal though increased miscarriages The Peer Teaching Society is not liable for false or misleading information…

  39. Seronegative Spondyloarthropathies • Familial; HLA-B27 • Different distribution of joint involvement • Spine/Sacroiliac joints • Asymmetrical large joint oligo- or monoarthropathies • Enthesitis (inflammation of site of attachment of tendon/ligament to bone) • Extra-articular features • No RF production (“Seronegative”) The Peer Teaching Society is not liable for false or misleading information…

  40. Seronegative Spondyloarthropathies • 3 main conditions • Ankylosing Spondylitis • Psoriatic Arthritis • Reactive Arthritis The Peer Teaching Society is not liable for false or misleading information…

  41. Ankylosing Spondylitis • Inflammatory spinal disorder • Affects young adults • Men present earlier • M:F age 16 is 6:1 • M:F age 30 is 2:1 • 95% are HLA-B27 +ve The Peer Teaching Society is not liable for false or misleading information…

  42. Clinical Features of AS • Early Features / Presentation • Typically young male • Low back pain / stiffness • Buttock pain • Worse in the morning; relieved by exercise • Episodic but persistent for 3/12 • Associations • Chest pain • Hip involvement • Knee involvement • Enthesitides – plantar faciitis • Crohn’s/UC/Amyloid • Psoriaform rashes • Iritis / sterile uveitis • Late Features • Kyphosis • Neck hyperextension (question mark posture) • Spino-cranial ankylosis The Peer Teaching Society is not liable for false or misleading information…

  43. Classification Criteria • High sensitivity and specificity • 3 out of the following in adults under 50 indicates AS: • Morning stiffness >30 mins • Improvement with exercise but not rest • Awakening due to back pain in the 2nd half of the night only • Alternating buttock pain The Peer Teaching Society is not liable for false or misleading information…

  44. AS Investigations • Clinical diagnosis • Radiological findings – • Early: Normal, or erosions/sclerosis affecting both sides of lower sacroiliac joints • Late: Squaring of vertebra, “bamboo spine” The Peer Teaching Society is not liable for false or misleading information…

  45. Management of AS Non-Pharmacological • Exercise, not rest • Intense exercise regimens Pharmacological • NSAIDs for pain / stiffness • Sulfasalazine / Methotrexate help peripheral arthritis / enthesitis • Infliximab • Long term bisphosphontes to help prevent osteoporotic spinal fractures Surgical • Spinal osteotomy The Peer Teaching Society is not liable for false or misleading information…

  46. Psoriatic Arthritis • Arthritis / Enthesitis in patients with psoriasis or FH or psoriasis • Skin disease may develop after the arthrtitis • Asymmetrical arthritis involving DIPJ and spine • Dactylitis (due to synovitis/tenosynovitis) • Arthritis mutilans The Peer Teaching Society is not liable for false or misleading information…

  47. Psoriatic Arthritis Treatment • Responds to: • NSAIDs • Methotrexate • Cyclosporin • Anti-TNFα Therapies The Peer Teaching Society is not liable for false or misleading information…

  48. Reactive Arthritis • Large joint mono- or oligoarthritis occurring following an infection • Men > Women • Typical triggers • NSU e.g. Chlamydia trachomats • Gut infections; salmonella, shigella, yersinia The Peer Teaching Society is not liable for false or misleading information…

  49. Reactive Arthritis • May be chronic or relapsing • Management: • Rest • Splint joints • NSAIDs / Steroids • Consider sulfasalazine / Methotrexate • Treating original infection has little benefit The Peer Teaching Society is not liable for false or misleading information…

  50. Reactive Arthritis • “Reiters Syndrome” • Can’t See, Can’t Pee, Can’t climb a tree…. • Reactive Arthritis • Urethritis • Conjuncivitis The Peer Teaching Society is not liable for false or misleading information…

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