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CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc; see this term) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.
The prevalence is estimated at about 1/12,500 adults. Women are predominantly affected (F/M sex ratio around 4:1).
The disease usually manifests at between 40 and 50 years of age. Patients usually present at least three of the five cardinal clinical features. Raynaud's phenomenon is the most common and often the first sign of the disease. The other signs usually appear some years later. Skin involvement is limited to the fingers and face. Calcinosis is found predominantly in the extremities and around joints. Sclerodactyly typically begins in the distal fingers and the main risk is the occurrence of digital ulcers. Telangiectasias are preferentially found on the hands, face, and lips. Esophageal dysmotility can provoke gastroesophageal reflux and sometimes dysphagia. About 30 to 40% of patients have lung fibrosis on computed tomography (CT) scan and about 10% have pulmonary arterial hypertension.
The exact cause of CREST syndrome is unknown. The disease originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to chemicals (including silica, solvents and hydrocarbons).
Diagnosis is based on the typical clinical manifestations, and on evidence of specific microangiopathy with giant loops on capillaroscopy. Blood tests show typical anti-centromere autoantibodies (ACA). The extent of the disease should be evaluated by CT, electrocardiogram, echocardiography, radiography of the hand and esophageal and gastric fibroscopy if needed.
Differential diagnoses include Sharp syndrome, systemic lupus erythematosus, antiphospholipid syndrome, and polyarteritis nodosa (see these terms).
Management and treatment
Management is mostly symptomatic. Raynaud's phenomenon can be treated with calcium channel blockers. Proton pomp inhibitors are given for gastric reflux. Surgical resection of severe calcinosis may be required. Patients require regular clinical follow-up with early pulmonary function tests and echocardiography. Low doses of corticosteroid with immunosuppressive agents are needed in cases with progressive lung fibrosis. Pulmonary vasodilators are given in case of pulmonary arterial hypertension.
The prognosis of CREST syndrome is relatively good with a long-lasting disease duration (>10 years). However, pulmonary arterial hypertension may be a complication of the disease and may lead to a more severe prognosis. Severe lung fibrosis may occur in some patients.
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