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.
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What this article covers
- Overview
Definition: systemic sclerosis is a multiorgan disease of obliterative vasculopathy and progressive fibrosis, most visible in the skin but also affecting the lungs, heart, kidneys, and gastrointestinal tract.
- Epidemiology
Rare disease: prevalence about 275 cases per million, annual incidence about 19 per million.
- Risk factors
Female sex: more common in women than men across all subtypes.
- Pathophysiology
Vascular injury comes first: Raynaud phenomenon, one of the earliest manifestations, reflects endothelial injury preceding fibrosis.
- Clinical features
Skin distribution defines the subtype: diffuse disease extends thickening proximal to the elbows and knees with trunk involvement; limited disease stays distal.
- Differential diagnosis
Limited cutaneous systemic sclerosis (CREST syndrome): shares Raynaud phenomenon and sclerodactyly, but thickening stays distal to the elbows and knees with anticentromere antibody predominating (CREST syndrome).
- Diagnosis
First, the diagnosis is anchored by the 2013 ACR/EULAR classification criteria, a weighted score in which 9 or more equates to definite systemic sclerosis: finger skin thickening proximal to the…
- Management
First, classify the subtype and screen every organ at baseline (pulmonary function testing, high-resolution CT chest, echocardiography, blood pressure), since therapy is organ-specific.
- Complications
Scleroderma renal crisis: an organ-threatening hypertensive emergency that can progress to dialysis if ACE inhibitor therapy is delayed (scleroderma renal crisis).
- Prognosis
Subtype determines survival: 10-year survival exceeds 70% in limited and is 70% or less in diffuse cutaneous disease.
- Prevention
Avoid glucocorticoid doses above 15 mg/day, using caution even above 7.5 mg/day, since higher exposure precipitates renal crisis; avoid prophylactic ACE inhibitors in high-risk patients.
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Related articles
- 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.
- 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.
- 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.
- Interstitial lung disease
Interstitial lung disease (ILD), also called diffuse parenchymal lung disease, is a diverse group of nonmalignant disorders causing inflammation and scarring of the alveolar interstitium, presenting as subacute to chronic exertional dyspnea and nonproductive cough. Diagnosis rests on pulmonary function testing plus high-resolution CT pattern recognition; management is exposure removal, glucocorticoids for inflammatory disease, antifibrotic therapy for progressive fibrotic disease, oxygen for hypoxemia, and early transplant referral.
- 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.