Connective tissue disease

In medicine and rheumatology, connective tissue diseases are "a heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides."

Classification

Autoimmune disease

• Dermatomyositis - may have autoantibodies to histidine-tRNA ligase (anti-synthetase, Jo-1 antibody) and to PM-Scl nucleolar antigen complex
• Systemic lupus erythematosus
• Mixed connective tissue disease (MCTD). MCTD is an overlap between systemic lupus erythematosus, scleroderma, and polymyositis. Most patients with MCTD have autoantibodies to U1 small nuclear ribonucleoproteins (anti-U1 snRNP OR anti-U1 RNP)
• Polymyalgia rheumatica
• Rheumatoid arthritis - 80% a positive rheumatoid factor (autoantibodies against gamma-chain immunoglobulins)
  • Sjogren's Syndrome - 60% have autoantibodies to SS-A antigen (Anti-Ro antigen) or SS-B antigen (Anti-La antigen)
• Scleroderma - most have antinuclear antibodies or autoantibodies to centromere or DNA topoisomerase I (Anti-Scl-70)

Cartilage disease

• Relapsing Polychondritis

Collagen disease

• Alport Syndrome
• Ehlers-Danlos Syndrome
• Osteogenesis Imperfecta