Study Notes on Rheumatology

Rheumatology Study Notes

Definition

  • Rheumatism or rheumatic disorders are conditions causing chronic, often intermittent pain affecting the joints or connective tissue.

  • Rheumatism does not specify any specific disorder but encompasses at least 200 different conditions, including arthritis.

Rheumatological Diseases

  • Raynaud Syndrome

  • Rheumatoid Arthritis

  • Systemic Lupus Erythematosus

  • Scleroderma / Systemic Sclerosis

  • Dermatomyositis / Polymyositis

  • Sjögren Syndrome

  • Wegener Granulomatosis

  • Giant Cell Arteritis

Raynaud's Phenomenon

  • Definition: Raynaud's phenomenon can be defined as a health condition in which the blood vessels in an individual's body narrow in response to cold and stress, leading to transient malperfusion of fingers, toes, nose, and ears.

  • Symptoms: Affected areas turn pale and numb when exposed to cold.

  • Causes: Primarily caused by cold temperatures.

  • Sequence of Color Change:

    • Initially, the skin becomes white due to a lack of blood supply.

    • The blue color appears due to the absence of oxygen.

    • Once the blood supply returns to normal, the skin then gets a red color.

Rheumatoid Arthritis (RA)

  • Definition: Rheumatoid arthritis (RA) is an autoimmune disease that causes chronic inflammation of the joints.

  • RA can also cause inflammation around the joints, as well as in other organs, meaning it is referred to as a systemic illness and is sometimes called rheumatoid disease.

  • It is characterized as a chronic illness, lasting for years, with potential for long periods without symptoms.

  • Progression: RA is typically progressive, with the potential to cause joint destruction and functional disability.

Joint Structure in RA

  • Healthy Joint Components:

    • Muscle

    • Bursa

    • Bone

    • Synovial membrane

    • Synovial fluid

    • Joint capsule

  • RA Characteristics:

    • Bone erosion

    • Swollen inflamed synovial membrane

    • Thinned cartilage leading to bone ends rubbing together.

Symptoms of RA

  • Symptoms fluctuate depending on tissue inflammation levels:

    • Active disease period: fatigue, loss of energy, appetite loss, low-grade fever, muscle and joint aches, and stiffness that is symmetrical.

    • Stiffness is most notable in the mornings and after inactivity.

    • During disease flares, joints often become red, swollen, painful, tender due to synovium inflammation, leading to excessive synovial fluid production (synovitis).

Deformities in RA

  • Radial Deviation of the hand at the wrist.

  • Ulnar Deviation of fingers at MCP joints.

  • Dorsal Subluxation of the ulnar head caused by interruption of the radioulnar ligament.

  • Late Stage: Includes “Boutonniere” deformity of the thumb, “Swan-neck” deformity of fingers.

Diagnosis of RA

  • Diagnostic Tools:

    • X-Ray

    • MRI

    • ESR (Erythrocyte Sedimentation Rate)

    • C-reactive protein

    • Total blood count

    • Rheumatoid factor (IgM autoantibodies against IgG): positive in 70% of RA patients but also in 5% of healthy individuals, hence used for prognostic rather than diagnostic purposes.

    • Antinuclear antibody testing.

Criteria for Diagnosis of RA

  • American College Of Rheumatology Revised Criteria: Four of the following criteria must be present for at least six weeks:

    1. Morning stiffness

    2. Arthritis of three or more joint areas

    3. Arthritis of hand joints

    4. Symmetric arthritis

    5. Rheumatoid nodules

    6. Serum rheumatoid factor

    7. Radiographic changes

Treatment of RA

  • First-line drugs: aspirin and corticosteroids to reduce pain and inflammation.

  • Second-line drugs (DMARDs): gold, methotrexate, hydroxychloroquine promote disease remission and prevent joint destruction, though they are not anti-inflammatory.

  • If therapy fails, biologics like etanercept or infliximab may be considered as they exhibit specific inflammatory mediation.

Physiotherapy for RA

  • Regular physiotherapy is mandated for RA patients aiming to quickly restore mobility to affected joints and prevent complications:

    • Active and passive movement therapy

    • Cold application during acute episodes; heat application otherwise

    • Massage

    • Balneotherapy (use of thermal spas)

Systemic Lupus Erythematosus (SLE)

  • Definition: SLE is an autoimmune disease characterized by periods of flares and remission.

Symptoms of SLE

  • Symptoms vary greatly among individuals:

    • Skin ulcers

    • Arthritis, including joint pain, stiffness, and swelling

    • Inflammation of the heart and lungs (serositis)

    • Kidney issues, which can present with swelling or high blood pressure.

    • Neurological issues like headaches or seizures

    • Characteristic butterfly-shaped (malar) rash across the nose and cheeks, or a scaly, disk-shaped rash.

Risk Factors for SLE

  • Influences include:

    • Sunlight

    • Vitamin D deficiency

    • Smoking

    • Certain infections

    • The precise cause remains unclear.

SLICC Classification Criteria for SLE

  • Require at least 4 criteria (1 clinical, 1 laboratory) OR biopsy-proven lupus nephritis with positive ANA or Anti-DNA:

    • Clinical Criteria: include cutaneous lupus, oral/nasal ulcers, arthritis, serositis, renal, neurologic, and hematologic conditions.

    • Immunologic Criteria: positivity for ANA, Anti-DNA, Anti-Sm, antiphospholipid antibodies, and others.

Treatment of SLE

  • Involves preventing flares and minimizing severity:

    • Corticosteroids

    • Immunosuppressive agents.

Prognosis for SLE

  • Considered incurable but highly treatable; many individuals can expect a normal lifespan.

Scleroderma and Systemic Sclerosis

  • Progresses from localized scleroderma (skin only) to systemic sclerosis affecting skin and internal organs

  • Characterized by collagen accumulation causing organ infarctions.

Symptoms of Scleroderma

  1. Reduced joint mobility with contractures

  2. Distally tapering fingers: “Madonna fingers”

  3. Rigidity of facial muscles (reduced facial mobility)

  4. Small mouth opening with radial creases

CREST Syndrome

  • Limited scleroderma symptoms referred to as CREST:

    • Calci-Des deposits in skin

    • Raynaud’s phenomenon

    • Esophageal dysfunction

    • Sclerodactyly

    • Telangiectasias

Diagnosis of Scleroderma

  • Identified through presence of:

    • Anti-centromere antibodies (70% with limited cutaneous scleroderma)

    • Anti-Scl antibodies (40% with diffuse cutaneous scleroderma).

Treatment of Systemic Sclerosis

  • Treatment remains challenging: specific organ-focused therapies including but not limited to:

    • Renal crisis management with ACE inhibitors

    • Oesophageal involvement with PPIs

    • Pulmonary hypertension treated with calcium channel blockers or prostacyclins and possibly lung transplant in severe cases.

Dermatomyositis and Polymyositis

  • Conditions affecting proximal muscles, characterized by:

  • Muscle weakness, particularly during movements like standing or arm lifting.

  • Common symptoms also include muscular pain and fever.

  • Approximately 10% occur in association with malignancies (paraneoplasia).

Sjögren’s Syndrome

  • A chronic disorder leading to insufficient moisture production in certain glands.

Symptoms of Sjögren’s Syndrome

  • Keratoconjunctivitis sicca (dry eyes)

    • Symptoms include: gritty sensation, burning, redness.

  • Xerostomia (dry mouth)

    • Symptoms include: chewing and swallowing difficulties, decreased taste, speaking difficulties.

  • Enlarged parotid glands, excessive fatigue, muscle and joint aches.

Diagnosis of Sjögren’s Syndrome

  • Diagnosis relies on:

    • Dry eyes and mouth assessment (e.g., Schirmer test).

    • Laboratory tests identifying autoantibodies in blood (anti-SSA or anti-SSB).

    • Biopsy of the inner lip to identify salivary gland inflammation.

Treatment of Sjögren’s Syndrome

  • No cure, but treatment aims to reduce discomfort and harmful effects of dryness; tailored to patient symptoms.

Vasculitis

  • An inflammatory vascular disease instigated by immunological reactions, impacting various organs. Diagnosed based on clinical, pathological, anatomical, and immunological findings.

Wegener Granulomatosis

  • A specific type of vasculitis characterized by granulomas, often starting in the upper respiratory tract before affecting systemic areas (pulmorenal syndrome).

  • Symptoms may include chronic sinusitis, oral/nasal ulcers, hemoptysis, arthralgia, and signs of renal failure.

Granulomas

  • Defined as a structure formed during inflammation, a collection of immune cells (macrophages), formed by the immune system to wall off substances perceived as foreign.

Giant Cell Arteritis

  • Common vasculitis in older women, presenting mainly as temporal arteritis.

  • Symptoms include:

    • Throbbing headaches in temples

    • Eye pain with a risk of blindness from central artery involvement

    • Palpable painful hardened temporal artery.

  • The cause remains unknown, treatment primarily involves glucocorticoids.