Connective Tissue Diseases

Scleroderma (systemic sclerosis) is an autoimmune condition characterized by diffuse collagen deposition and fibrosis. The clinical presentation varies from limited skin involvement to diffuse involvement of internal organs. Diagnosis is established by a combination of physical findings and serology. There is no curative treatment. Management options are limited and include immunosuppressive medications as well as specific organ- or symptom-directed drugs. The overall 5-year survival of patients with scleroderma is about 80%.

Polymyositis (PM) is an autoimmune inflammatory myopathy caused by T cell-mediated muscle injury. The etiology of PM is unclear, but there are several genetic and environmental associations. Polymyositis is most common in middle-aged women and rarely affects children. Patients present with progressive and symmetric proximal muscle weakness and constitutional symptoms. Complications may arise from respiratory, cardiac, or GI involvement. Diagnosis is based on clinical presentation and laboratory studies and confirmed using muscle biopsy. Management is with systemic glucocorticoids, immunosuppressants, and physiotherapy. All patients should undergo cancer screening because there is a strong association with malignancy.

Dermatomyositis (DM) is an autoimmune and inflammatory myopathy. Although the etiology of DM is unclear, it has several genetic and environmental associations. Dermatomyositis is common in women around the age of 50 years. Patients present with symmetrical, proximal weakness, characteristic skin manifestations, and systemic symptoms. Diagnosis is based on clinical presentation and laboratory studies and confirmed on the basis of muscle biopsy. Myositis-specific antibodies, including anti-Mi-2, are specific markers in DM. Management is with systemic glucocorticoids, immunosuppressants, and physiotherapy. As there is a strong association of DM with malignancy, all patients should undergo cancer screening.

Disease-modifying antirheumatic drugs are antiinflammatory medications used to manage rheumatoid arthritis. The medications slow, but do not cure, the progression of the disease. The medications are classified as either synthetic or biologic agents and each has unique mechanisms of action and side effects. Common side effects among the disease-modifying antirheumatic drugs include bone marrow suppression and hepatotoxicity. Leflunomide, methotrexate, and tumor necrosis factor (TNF)-ɑ inhibitors are avoided in pregnancy due to their potential teratogenicity. Hydroxychloroquine and sulfasalazine are safe for use during pregnancy.

Systemic lupus erythematosus (SLE) is a chronic autoimmune, inflammatory condition that causes immune-complex deposition in organs, resulting in systemic manifestations. Women, particularly those of African American descent, are more commonly affected. The clinical presentation can vary greatly. Notable clinical features include malar rash, nondestructive arthritis, lupus nephritis, serositis, cytopenia, thromboembolic disease, seizures, and/or psychosis. Diagnosis is based on clinical criteria, and includes tests to determine ANAs, SLE-specific antibodies, and specific clinical findings. The goal of management is to control symptoms and prevent organ damage, using corticosteroids, hydroxychloroquine, and immunosuppressants.

Rheumatoid arthritis (RA) is a symmetric, inflammatory polyarthritis and chronic, progressive, autoimmune disorder. Presentation occurs most commonly in middle-aged women with joint swelling, pain, and morning stiffness (often in the hands). Systemic inflammation can lead to extraarticular manifestations such as rheumatoid nodules, interstitial lung disease, Felty syndrome, and pericarditis. Prolonged and severe disease can lead to irreversible joint deformities. Diagnosis is based on strong clinical suspicion and confirmed by the presence of rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibodies, and characteristic imaging. Management involves long-term disease-modifying antirheumatic drugs (DMARDs), biologic agents, and physical therapy. Glucocorticoids and nonsteroidal antiinflammatory drugs (NSAIDs) are the treatment of choice for acute exacerbation.

Sjögren syndrome (SS) is an autoimmune, inflammatory condition where glandular tissues, such as the salivary and lacrimal glands, are infiltrated by lymphocytes, resulting in decreased tear and saliva production. The disease mainly affects middle-aged women, and is associated with other autoimmune conditions. Patients may experience symptoms and complications related to dry eyes and mouth. There is a wide range of extraglandular manifestations, including Raynaud's phenomenon, neuropathy, and cutaneous vasculitis. Patients are also at an increased risk of developing non-Hodgkin's lymphoma. Diagnosis is based on the presence of symptoms, and is validated by the clinical examination, serologic studies, or salivary gland biopsy. A multidisciplinary approach is needed to manage patients and targets symptomatic relief, with immunosuppressive therapy reserved for severe symptoms.