SSc is a multisystem disorder characterized by thickening of the skin (scleroderma) and distinctive involvement of multiple internal organs (chiefly GI tract, lungs, heart, and kidney). Pathogenesis unclear; involves immunologic mechanisms leading to vascular endothelial damage and activation of fibroblasts.
- Cutaneous: edema followed by fibrosis of the skin (chiefly extremities, face, trunk); telangiectasia; calcinosis; Raynaud's phenomenon
- Arthralgias and/or arthritis
- GI: esophageal hypomotility; intestinal hypofunction, gastric antral vascular ectasia (GAVE)
- Pulmonary: interstitial lung disease (ILD), pulmonary arterial hypertension, alveolitis
- Cardiac: pericarditis, cardiomyopathy, conduction abnormalities
- Renal: hypertension; renal crisis/failure
Two distinct subsets can be identified:
- Diffuse cutaneous SSc: rapid development of symmetric skin thickening of proximal and distal extremity, face, and trunk. At high risk for development of visceral disease early in course.
- Limited cutaneous SSc: often have long-standing Raynaud's phenomenon before other features appear; skin involvement limited to fingers (sclerodactyly), extremity distal to elbows, and face; generally associated with better prognosis but can be associated with pulmonary arterial hypertension; a subset of limited SSc has features of CREST syndrome (calcinosis, Raynaud's, esophageal dysmotility, sclerodactyly, telangiectasias).
- History and physical examination with particular attention to blood pressure (heralding feature of renal disease).
- Laboratories: ESR, ANA (anticentromere pattern associated with limited SSc), specific antibodies may include anti-topoisomerase I (Scl-70), (UA). An increased range of autoantibodies correlating with specific clinical features have become recognized (Table 353-3, HPIM-20).
- Radiographs: CXR, barium swallow if indicated, hand x-rays may show distal tuft resorption and calcinosis.
- Additional studies: ECG, echo, PFT, consider skin biopsy.
| TREATMENT | ||
Systemic Sclerosis
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