Limited systemic sclerosis

Limited systemic sclerosis (also known as limited cutaneous systemic sclerosis or formerly CREST syndrome) is a chronic autoimmune connective tissue disorder characterized by fibrosis and vasculopathy that primarily affects the skin of the distal extremities (fingers, hands, forearms, feet, and face) and certain internal organs. It is a subtype of systemic sclerosis (scleroderma) distinguished from the diffuse form by the more restricted pattern of skin involvement. The acronym CREST refers to the five hallmark features historically associated with this condition: Calcinosis (calcium deposits in the skin), Raynaud's phenomenon (episodic vasospasm of the fingers and toes causing color changes), Esophageal dysmotility (difficulty swallowing and acid reflux), Sclerodactyly (thickening and tightening of the skin on the fingers), and Telangiectasia (dilated small blood vessels visible on the skin and mucous membranes). Not all patients exhibit every feature of the CREST constellation. Although skin involvement is more limited compared to diffuse systemic sclerosis, limited systemic sclerosis can still cause significant internal organ complications. Pulmonary arterial hypertension (PAH) is a particularly serious complication that can develop over time and is a major cause of morbidity and mortality in these patients. Interstitial lung disease, gastrointestinal dysmotility, and biliary cirrhosis (primary biliary cholangitis) may also occur. The disease is strongly associated with anticentromere antibodies (ACA), which are found in a majority of patients and serve as an important diagnostic marker. The condition predominantly affects women, with a female-to-male ratio of approximately 3-8:1, and typically presents in middle adulthood. There is currently no cure for limited systemic sclerosis, and treatment is directed at managing specific symptoms and preventing complications. Raynaud's phenomenon is managed with calcium channel blockers, phosphodiesterase-5 inhibitors, or prostacyclin analogs. Proton pump inhibitors and prokinetic agents are used for esophageal and gastrointestinal symptoms. Pulmonary arterial hypertension is treated with endothelin receptor antagonists, phosphodiesterase-5 inhibitors, and prostacyclin pathway agents. Immunosuppressive therapies such as mycophenolate mofetil may be used for progressive skin or lung involvement. Regular screening for PAH and other organ complications is essential for early detection and improved outcomes.

Common questions about Limited systemic sclerosis