Inflammatory Rheumatic Disorders, Primary Immunodeficiency Disorders

Rheumatic Diseases

Group of autoimmune, degenerative, inflammatory, and systemic disorders affecting joints, muscles, and soft tissues. May lead to limited mobility, fatigue, sleep disturbance, altered self-image, organ failure, and even death.

arthritis (joint inflammation) and pain.

Common feature of rheumatic disease

Rheumatoid Arthritis (RA)

Autoimmune, systemic, chronic inflammatory disease of unknown cause. Affects synovial joints → inflammation, pannus formation, cartilage destruction, and bone erosion. May involve extra-articular organs (heart, lungs, vessels, eyes, nerves).

Ulnar deviation

Swan neck & Boutonnière deformity

Subluxation (partial dislocation)

Possible deformities from Rheumatoid Arthritis

Management for Rheumatic arthritis

Rest & Joint protection, Exercise, Heat & Cold compress, Use assistive devices. HIgh-protein and vitamins for tissue repair. Maintain or reach ideal weight. Surgery if severe

Synovectomy

excision of inflamed synovium

Arthrodesis

joint fusion

Arthroplasty

joint replacement

Systemic Lupus Erythematosus (SLE)

Chronic, inflammatory, autoimmune disorder affecting nearly every organ system. Characterized by remissions and exacerbations. Body forms autoantibodies against nuclear components. Antigen-antibody complexes deposit in small vessels → inflammation & tissue damage.

Diagnostic tests for SLE

wide array of autoantibodies (ANAs), especially anti-double-stranded DNA (anti-dsDNA) and anti-Smith (anti-Sm) antibodies

Management for SLE

Monitor for disease flares (fever, rash, joint pain, fatigue). Prevent infection. Promote rest and activity balance. Protect skin. Monitor for corticosteroid side effects. Monitor renal, cardiac, and pulmonary function regularly.

Scleroderma (Systemic Sclerosis)

A rare autoimmune disease characterized by hardening and fibrosis of the skin, blood vessels, and internal organs.

Localized scleroderma: Affects skin only.

Diffuse (systemic sclerosis): Affects multiple organ systems.

Types of Scleroderma

CREST syndrome (scleroderma)

Calcinosis, Raynaud, Esophageal problem, Sclerodactyly, Telangiectasia. Diagnosed when ≥4 out of 5 features are present.

Management of Scleroderma

No cure; treatment is supportive and symptom-based. Skin care; Avoid cold, stress, and smoking; Small, frequent meals; elevate head after eating; soft diet. Encourage ROM and mobility exercises. Monitor signs of respiratory distress, renal function, cardiac symptoms.

Polymyositis

A rare chronic autoimmune inflammatory myopathy that causes progressive, symmetric muscle weakness. Autoantibodies and immune cells cause inflammation of skeletal muscles, not direct destruction. Progressive muscle weakness and atrophy, especially in proximal muscles.

Polymyositis Manifestations

Gradual onset over weeks to months. Proximal muscle weakness (hallmark). Myalgia. Dermatomyositis

Diagnostic tests for Polymyositis

↑ Muscle enzymes: ↑ aldolase, creatine kinase (CK); ↑ ESR, (+) muscle biopsy, abnormal EMG, ↑ AST, ALT, and LDH

Management for polymyositis

Corticosteroids. IVIG and plasmapheresis if unresponsive to steroids. Hydroxychloroquine. Physical Therapy. Watch for dysphagia or respiratory weakness. Protection from sunlight

Polymyalgia Rheumatica (PMR)

Inflammatory disorder causing stiffness and pain in the neck, shoulder, and pelvic girdle muscles.

Giant Cell Arteritis (GCA)

A form of vasculitis (inflammation of medium- and large-sized arteries), particularly the temporal arteries. risk of blindness and stroke

Polymyalgia Rheumatica manifestations

Severe proximal muscle stiffness and pain (neck, shoulders, hips). Morning stiffness or after inactivity .Low-grade fever, weight loss, fatigue, malaise, depression. May be mistaken for aging-related weakness.

Giant Cell Arteritis manifestations

Headache (temporal area), Jaw claudication (pain when chewing), Visual disturbances → blindness risk. Stroke risk if untreated. Low-grade fever, weight loss, fatigue, malaise, depression.

Temporal artery biopsy

Definitive test for GCA

Management for PMR

Moderate-dose corticosteroids (mainstay). NSAIDs for mild cases. Gradual tapering of steroids based on response and lab results. Monitor side effects and promote bone health

Management for GCA

High-dose corticosteroids (immediate initiation essential) to prevent blindness/stroke. Aspirin as adjunct therapy to reduce visual complications. Monitor for relapse and side effects of long-term steroid use.

Primary Immune Deficiency Diseases (PIDDs)

Rare inherited disorders that impair the immune system's ability to defend the body. Usually diagnosed in infancy (male-to-female ratio 5:1), but can also appear in adolescence or adulthood, where gender distribution equalizes.

Phagocytic Dysfunction

Defects in phagocytic cells (neutrophils, macrophages, monocytes) impair the body's ability to ingest and destroy bacteria or fungi.

Clinical Manifestations of Phagocytic Dysfunction

Recurrent skin abscesses, pneumonia, lymphadenitis, or osteomyelitis

Delayed wound healing

Granuloma formation

Nitroblue tetrazolium (NBT) test or Dihydrorhodamine (DHR) test

Tests for Neutrophil function

B-Cell Deficiencies

Defect in antibody (immunoglobulin) production due to malfunction or absence of B lymphocytes. Results in impaired humoral immunity, leading to failure to neutralize extracellular bacteria and viruses.

Clinical Manifestations of B-Cell Deficiencies

Recurrent sinopulmonary infections (otitis media, sinusitis, pneumonia)

Chronic diarrhea

Poor response to vaccines

Autoimmune manifestations

Diagnostic Tests of B-Cell Deficiencies

Serum immunoglobulin levels (IgG, IgA, IgM)

Flow cytometry for B-cell count

Antibody response to vaccines

T-Cell Deficiencies

Defects in T lymphocytes, which mediate cellular immunity and coordinate other immune responses. Caused by abnormal thymus development or genetic T-cell signaling defects.

Clinical Manifestations of T-Cell Deficiencies

Recurrent viral, fungal, and protozoal infections

Failure to thrive

Hypocalcemia

Heart defects

Diagnostic Tests of T-Cell Deficiencies

T-cell counts (CD3, CD4, CD8)

Flow cytometry

Delayed hypersensitivity skin tests (absent response indicates defect)

Genetic testing

Combined B-Cell and T-Cell Deficiencies

Defects affect both humoral (B-cell) and cell-mediated (T-cell) immunity, leading to severe immunocompromise. Caused by genetic defects in stem cells or DNA repair.

Clinical Manifestations of Combined Deficiencies

Severe, recurrent infections (bacterial, viral, fungal)

Failure to thrive

Chronic diarrhea

Oral thrush

Often fatal in infancy without treatment

Deficiencies of the Complement System

Defects in one or more complement proteins that normally help antibodies and phagocytes clear pathogens. Impairs opsonization, lysis, and inflammation processes.

Clinical Manifestations of Complement Deficiency

Recurrent Neisseria infections (especially meningitis, gonorrhea)

Autoimmune diseases (like lupus-like syndromes)

Recurrent pyogenic infections

Diagnostic Tests of Complement Deficiency

CH50 assay: measures total complement activity

C3 and C4 levels

Genetic testing