CREST syndrome
CREST syndrome (limited cutaneous systemic sclerosis) causes calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, with skin thickening confined distal to the elbows and knees plus the face. Anticentromere antibody is the serologic hallmark, and annual echocardiographic screening for pulmonary arterial hypertension, treated with an endothelin receptor antagonist or phosphodiesterase-5 inhibitor, drives outcomes more than the renal or lung fibrosis risk of diffuse disease.
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What this article covers
- Overview
Definition: CREST syndrome, now classified as limited cutaneous systemic sclerosis, is an autoimmune vasculopathy and fibrosis named for five components: calcinosis, Raynaud phenomenon, esophageal…
- Epidemiology
Rarity: systemic sclerosis overall affects about 275 per million, with an annual incidence of about 19 per million.
- Risk factors
Female sex: most patients are women. Black race: associated with more severe disease across subtypes.
- Pathophysiology
Vascular injury precedes fibrosis: early Raynaud phenomenon marks vascular injury preceding the fibrotic phase.
- Clinical features
Skin distribution defines the subtype: thickening limited to the fingers, hands, face, and neck, and to skin distal to the elbows and knees; trunk, upper arms, and thighs are spared, unlike diffuse disease.
- Differential diagnosis
Diffuse cutaneous systemic sclerosis (see systemic-sclerosis): thickening extends proximal to the elbows/knees and onto the trunk, progresses faster, favors anti-Scl-70 or anti-RNA polymerase III over anticentromere antibody.
- Diagnosis
What establishes the diagnosis: limited cutaneous systemic sclerosis is a clinical diagnosis defined by skin thickening confined distal to the elbows and knees plus the face and neck, sparing the…
- Management
First action for Raynaud phenomenon: cold avoidance, gloves, central warmth, plus a first-line dihydropyridine, nifedipine extended-release 30 mg PO once daily titrated to 90 mg/day; amlodipine 5 mg…
- Complications
Pulmonary arterial hypertension: up to 25 percent, more often than diffuse disease, with high mortality; exertional dyspnea progressing to chest pain and edema.
- Prognosis
Better overall course than diffuse disease: progresses more slowly with less visceral fibrosis than diffuse cutaneous systemic sclerosis.
- Prevention
Cold protection: dress warmly, use gloves, and keep the core warm to cut Raynaud phenomenon frequency and digital ulcer risk.
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Related articles
- Systemic sclerosis
Systemic sclerosis is a multiorgan disease of vascular injury and progressive fibrosis in which diffuse cutaneous disease extends skin thickening proximal to the elbows and knees and drives early visceral fibrosis. Diagnosis rests on the 2013 ACR/EULAR classification criteria and an antibody split (anti-Scl-70, anticentromere, anti-RNA polymerase III), and treatment is organ-specific: mycophenolate or nintedanib for interstitial lung disease, calcium channel blockers for Raynaud phenomenon, and captopril for scleroderma renal crisis.
- Raynaud phenomenon
Raynaud phenomenon is episodic digital vasospasm with triphasic pallor, cyanosis, and reactive hyperemia, split into a benign primary form and a secondary form driven by an underlying connective tissue disease. Diagnosis is clinical, with nailfold capillaroscopy and an autoantibody panel screening for systemic sclerosis, and treatment starts with cold avoidance before a dihydropyridine calcium channel blocker such as nifedipine.
- Scleroderma renal crisis
Scleroderma renal crisis is an abrupt, organ-threatening emergency in systemic sclerosis marked by severe new-onset hypertension, acute kidney injury, and microangiopathic hemolytic anemia with schistocytes, occurring most often within the first 4 years of diffuse cutaneous disease in patients with anti-RNA polymerase III antibodies or recent high-dose glucocorticoid exposure. Treatment is immediate, aggressive titration of a short-acting angiotensin-converting enzyme inhibitor, typically captopril, continued even through a rising creatinine or dialysis.
- Pulmonary hypertension
Pulmonary hypertension is a resting mean pulmonary artery pressure of 20 mmHg or greater on right heart catheterization, classified into five WHO groups by mechanism. Diagnosis requires screening echocardiography followed by confirmatory right heart catheterization, and management is group-specific, with PAH-targeted vasodilator therapy reserved for group 1 disease.
- Gastroesophageal reflux disease (GERD)
GERD is retrograde reflux of gastric contents into the esophagus causing heartburn and regurgitation, diagnosed clinically and confirmed by response to an empiric PPI trial, with endoscopy reserved for alarm features or refractory symptoms. Management proceeds from lifestyle measures through an 8-week once-daily PPI trial, dose escalation or agent switch for partial response, and fundoplication for medication-refractory or regurgitation-predominant disease.