Scleroderma

Scleroderma, also known as systemic sclerosis (SSc), is a chronic autoimmune connective tissue disease characterized by excessive collagen deposition leading to fibrosis (hardening and thickening) of the skin and internal organs. The disease results from a complex interplay of immune system dysfunction, vascular damage, and fibroblast activation. Scleroderma can be classified into two major subtypes: limited cutaneous systemic sclerosis (formerly known as CREST syndrome, involving Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia) and diffuse cutaneous systemic sclerosis, which involves more widespread skin thickening and earlier internal organ involvement. The disease affects multiple body systems including the skin, blood vessels, lungs, heart, kidneys, and gastrointestinal tract. Raynaud's phenomenon — episodes of reduced blood flow to the fingers and toes triggered by cold or stress — is often the earliest symptom and occurs in nearly all patients. Skin thickening typically begins in the fingers and hands and may progress proximally. Pulmonary involvement, including interstitial lung disease and pulmonary arterial hypertension, is a leading cause of morbidity and mortality. Gastrointestinal manifestations such as esophageal dysmotility and gastroesophageal reflux are very common. Renal crisis, characterized by sudden severe hypertension and kidney failure, is a serious but now treatable complication. There is currently no cure for scleroderma, and treatment is directed at managing specific organ manifestations and slowing disease progression. Immunosuppressive agents such as mycophenolate mofetil and cyclophosphamide are used for interstitial lung disease. Pulmonary arterial hypertension is treated with endothelin receptor antagonists, phosphodiesterase-5 inhibitors, and prostacyclin analogs. ACE inhibitors have dramatically improved outcomes in scleroderma renal crisis. Nintedanib has been approved for slowing the decline of lung function in SSc-associated interstitial lung disease. Autologous hematopoietic stem cell transplantation is being explored for severe, rapidly progressive cases. Multidisciplinary care involving rheumatology, pulmonology, cardiology, gastroenterology, and dermatology is essential for optimal management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Scleroderma