Rheumatology Basics Quiz

Rheumatology Overview

• Batterjee Medical College, a center for science and technology, provides a rheumatology course taught by Dr. Mohamed Roshdi, MD, Assistant Professor of Internal Medicine.

Learning Objectives

• Students will learn the pathophysiology, etiology, epidemiology, manifestations, complications, and management of rheumatological and collagen disorders.
• Students will develop skills to interpret clinical manifestations and investigations of rheumatological and collagen disorders to formulate reasonable diagnoses.
• Students will apply evidence-based management plans for rheumatological and collagen disorders, and distinguish patients in emergency situations to formulate comprehensive management plans, maintaining homeostasis.

Rheumatoid Arthritis: Definition and Etiology

• Rheumatoid arthritis is a connective tissue disorder.
• It's characterized by articular and extra-articular manifestations, suspected to be autoimmune related.
• The precise etiology is uncertain, but it's likely autoimmune.
• Synovial membrane infiltration with lymphocytes and plasma cells is suggested.
• Environmental and genetic factors may contribute, including a positive family history and HLA association (HLADr4).

Rheumatoid Arthritis: Pathology

• I. Articular:
  • Synovitis: Thickening, inflammation, and infiltration of the synovium with lymphocytes and plasma cells.
  • Pannus formation: Erodes and destroys articular cartilage.
  • Cartilage erosion and destruction lead to subluxation and deformity.
• II. Extra-articular:
  • Rheumatoid nodules (in 20% of cases): Fibrinoid degeneration with inflammatory cells surrounded by a fibrous capsule.
  • Exclusive to seropositive patients.

Rheumatoid Arthritis: Stages

• The presentation of rheumatoid arthritis progresses through stages, with synovitis being the first stage, followed by pannus formation, fibrosis, and ultimately bony ankylosis.

Rheumatoid Arthritis: Mode of Onset and Clinical Picture

• Mode of Onset:
  • Gradual (months): 70%
  • Intermediate (weeks): 20%
  • Acute (days): 10% -Typically begins as gradual polyarthritis but can start as monoarthritis.
• Clinical Picture:
  • 1-3% of the population affected.
  • Predominantly affects females (3:1 ratio).
  • Includes general symptoms like fever, fatigue, and morning stiffness.

Rheumatoid Arthritis: Articular Manifestations

• Affects multiple joints; primarily peripheral joints (upper and lower limbs) more than central joints.
• Focuses on smaller joints (e.g., hands, feet, wrist).
• Distal interphalangeal joints are usually spared.
• Characterized by redness, hotness, swelling, tenderness, and limited movement.

Rheumatoid Arthritis: Deformities

• Hand deformities (boutonniere, swan-neck, ulnar deviation, Z-shaped thumb).
• Carpal tunnel syndrome.
• Cricoarytenoid (stridor and hoarseness of voice).
• Atlanto-axial subluxation (spinal cord compression potentially leading to paraplegia).
• Tendon rupture (extensors more frequently than flexors, as seen in the hip and knee).
• Baker cyst (popliteal cyst).

Rheumatoid Arthritis: Diagnostic Criteria

• Patients are diagnosed with RA if they exhibit at least 4 of the 7 criteria.
• Symptoms must persist for at least 6 weeks, including morning stiffness (over 1 hour), arthritis in at least 3+ joints and hand joints, symmetrical arthritis, rheumatoid nodules, characteristic X-ray findings, and a positive rheumatoid factor.

Rheumatoid Arthritis: Investigations

• X-ray: Osteoporosis, joint space narrowing, and deformity.
• Chest X-ray: Pleural effusions.
• Synovial fluid aspiration: Antibody detection.
• Blood tests: Anemia (normochromic and hypochromic), elevated white blood cell count (potentially decreased in Felty's syndrome), elevated ESR (potentially over 100 in severe cases), and elevated CRP
• Serological tests: positive rheumatoid factor in approximately 80% of cases. Less frequently positive for anti-nuclear antibodies (ANA) and lupus erythematosus (LE) cells at diagnosis. Positive for Anti CCP.

Rheumatoid Arthritis: Treatment

• General Treatment:
  • Rest, especially during acute stages.
  • Splinting for pain management and to prevent deformities.
  • Physiotherapy to maintain joint function once the acute phase subsides.
• Medical Treatment:
  • NSAIDs: Aspirin, diclofenac, paracetamol, indomethacin, and ketoprofen to relieve pain and inflammation. Mechanisms and Side Effects are presented.
• Cortisone: Small doses for RA, potentially high doses for extra-articular manifestations. Side effects of cortisone are presented.
• DMARDs: Slow-acting medications used to modify RA and reduce disease progression: Gold salts, Penicillamine, Chloroquine. Side effects are presented.
• Immunosuppressive Drugs (MAC): Methotrexate, azathioprine, cyclophosphamide for severe/resistant cases.
• Intra-articular injections of cortisone: To treat inflammation of tendons.
• Surgical treatment: Synovectomy, arthrodesis, and joint replacement for severe cases.

Systemic Lupus Erythematosus (SLE): Definition and Etiology

• Systemic Lupus Erythematosus (SLE) is a chronic systemic autoimmune disease with systemic and articular manifestations.
• It involves multiple organs and systems in the body.
• The cause remains questionable, but autoimmune mechanisms potentially play a key role, causing a T-suppressor lymphocyte dysfunction, an increase in autoantibodies and immune complexes, in turn affecting multiple tissues/organs.
• Genetic factors, environmental elements (sunlight exposure, infections), and drug-induced lupus (e.g., hydralazine, INH, penicillamine, phenytoin) are possible contributing factors.
• Hormonal factors (e.g., estrogen) may contribute, particularly in the childbearing years.

SLE: Pathology

• I. Articular: Synovitis is typically non-erosive, with no cartilage loss.
• II. Extra-articular: Immune complex deposition in various tissues and organs: skin, Kidney (glomeruli, heart, lungs, CNS.

SLE: Clinical Presentation

• I. General: Fever, fatigue, and sweating.
• II. Skin:
  • Malar rash (across cheeks).
  • Butterfly rash (on cheeks and bridge of nose).
  • Discoid rash (scaling, scarring on face).
  • Photosensitivity.
  • Alopecia.
  • Vasculitis (purpura, leg ulcers).
  • Raynaud's phenomenon (poor circulation, cold fingers).
• Other systems affected: Renal, Cardiac, Chest, CNS, Eye, GIT, Blood are presented

SLE: Diagnostic Criteria

• The American Rheumatism Association (ARA) has defined 11 criteria for diagnosing SLE, although the presence of four or more symptoms strongly suggests the condition.
• These criteria include the presence of a malar rash, discoid rash, photosensitivity, oral ulcers, non-erosive arthritis, proteinuria, pleurisy or pericarditis, neurological symptoms, Peripheral arthritis, presence of Anti-nuclear antibodies (ANA) and anti-DNA antibodies (anti-smith).

SLE: Treatment

• There is no cure.
• General prophylactic measures: Rest, protective clothing/sunglasses/sunscreen avoidance of drugs that trigger SLE. Psychological treatment.
• Medication: NSAIDs, Cortisone, Topical cortisone for skin rash, Hydroxychloroquine, Immunosuppressive drugs.
• Plasmapheresis: For severe cases involving brain or kidney.
• Treatment of complications: e.g., spleen removal for thrombocytopenia; dialysis or transplant for end-stage kidney disease.

Progressive Systemic Sclerosis (Scleroderma): Definition and Pathology

• Progressive Systemic Sclerosis (Scleroderma) is a connective tissue disorder characterized by fibrosis and thickening of the skin and related damage to blood vessels and internal organs.
• Pathology: Characterized by collagen deposition throughout the body and vasculitis (inflammation of blood vessels and potentially associated organ dysfunction)

Scleroderma: Clinical Picture

• Skin: Early edema, followed by progressive thickening and fibrosis/induration; the skin loses its elasticity. Skin discoloration (hyperpigmentation/hypopigmentation), ulceration, and calcification.
• GIT: Can lead to dysphagia/reflux/malabsorption. Constipation also commonly impacted.
• Renal: Vasculitis and renal crisis can be life-threatening.
• Other systems: Cardiac, Chest, CNS are presented

Scleroderma: Treatment

• Similar to SLE. No cure exists, and treatment is symptom-focused and treatment of associated organ problems. Treatment is mostly supportive.

Osteoarthritis: Definition and Classification

• Osteoarthritis is a degenerative joint disease, characterized by cartilage breakdown and formation of osteophytes.
• It is not an inflammatory disease unlike rheumatoid arthritis.
• Classification:
  • Primary: Unknown etiology. Genetic factors may play a role.
  • Secondary: Related to mechanical stress (occupational or sport related injuries), existing joint problems (RA, septic arthritis, Gout), and endocrine conditions (hyperparathyroidism, diabetes, acromegaly).

Osteoarthritis: Risk Factors and Clinical Picture

• Risk factors: Aging, positive family history, sex (more common in females), obesity, joint overuse.
• Clinical picture:
  • Pain (worsening with activity, better with rest).
  • Stiffness.
  • Crepitus (grating sensation on movement).
  • Minimal joint deformity and muscle wasting.
  • No systemic manifestations.
• Common joint involvement: knee, hip, spinal (cervical and lumbar), distal and proximal interphalangeal joints, first carpometacarpal joint, first metatarsophalangeal joint.

Osteoarthritis: Investigations and Treatment

• Investigations: Normal blood tests, joint space narrowing, osteophytes, subchondral sclerosis in X-rays.
• Treatment: Exercise, physiotherapy, short course of analgesics (NSAIDs), intra-articular steroid injections, and surgery (in severe cases).

References

• The provided slides include references to Step-up to Medicine and Davidson's Principles and Practice of Medicine.