Scleroderma (Systemic Sclerosis)¶
Eva Niklinska and Raeann Whitney
Background
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Distinguish from localized scleroderma (morphea or linear scleroderma) = dermal fibrosis w/o internal organ involvement)
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2 Major Subtypes of Generalized / Systemic Scleroderma (SSc):
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Limited Cutaneous (lcSSc): skin thickening limited to the neck, face, or distal to elbows and knees; spares the truck and proximal extremities
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Limited does not equal mild, limited refers to distribution of skin involvement
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Renal crisis is rare
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Patients with + ACA (anticentromere Ab) are at high risk for developing PAH
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Patients with + Anti-Scl-70 Ab are also at high risk for progressive ILD
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Diffuse Cutaneous: skin thickening extends proximal to the elbows/knees or trunk
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Typically more abrupt onset and rapid progression compared to lcSSc
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High risk for progressive ILD
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+ RNA polymerase III Ab = high risk of renal crisis, higher risk for malignancy
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Presentation¶
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CREST: Calcinosis cutis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia (CREST syndrome is no longer a discrete diagnosis)
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Systemic: fatigue, weight loss
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Vascular: Raynaud’s ± digital tip ulcers, telangiectasias, nailfold capillaroscopy w/ dilated capillary loops
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Skin: Loss of facial wrinkles, decreased oral aperture
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MSK: arthralgias, myalgias, flexion contractures
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GI: Esophageal or intestinal dysmotility, GERD, GAVE (watermelon stomach)
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Pulm: ILD (NSIP, UIP), pulmonary arterial hypertension (PAH)
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Cardiac: pericardial effusions, myocarditis, cardiomyopathy, conduction system disease
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Renal: renal crisis (onset of malignant HTN, greatest risk in first 5 years)
Evaluation¶
- 2013 ACR/EULAR Classification Criteria weight-based symptom scoring
| Items | Sub-items | Weight |
|---|---|---|
| Skin thickening of fingers of both hands extending proximal to metacarpophalangeal (MCP) joints | 9 | |
| Skin thickening of fingers (only count the highest score) | Puffy fingers Whole finger, distal to MCP |
2 4 |
| Fingertip lesions (only count the highest score) | Digital tip ulcers Pitting scars |
2 3 |
| Telangiectasia | 2 | |
| Abnormal nailfold capillaries | 2 | |
| Pulmonary arterial hypertension and/or interstitial lung disease | 2 | |
| Raynaud’s phenomenon | 3 | |
| Scleroderma-related antibodies (any of anti-centromere, anti-topoisomerase I [anti-cL 70], anti-RNA polymerase III) | 3 | |
| Patients with a total score of ≥9 are classified as having definite systemic sclerosis (sensitivity 91%, specificity 92%) | ||
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Labs: ANA w/ Reflex, Scl70, anticentromere, RNA pol III (separate order in Epic)
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Imaging/Procedures: Baseline PFTs, Lung HRCT, TTE, EKG, 6-minute walk test
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Skin biopsy: Not often used for dx, may be required to differentiate other rare disorders (eosinophilic fasciitis, scleroderma, scleromyxedema)
Management¶
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Organ-Based Symptomatic Therapy
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Raynauds: CCB (amlodipine, nifedipine), topical nitroglycerin
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GERD: PPI
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Renal: Monitor BP; Cr
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ILD: Periodic PFTs, monitor for new respiratory symptoms, pulm referral
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Cardiac/PAH: annual TTE, cardiology referral
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Systemic Immunosuppression (if progressive skin thickening or organ involvement)
- MTX, MMF, cyclophosphamide, if refractory rituximab, IVIG
Scleroderma Renal Crisis¶
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Typically presents early in disease course (can even precede skin thickening)
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Abrupt onset of hypertension and renal dysfunction
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Labs: Elevated Cr, proteinuria, microangiopathic hemolytic anemia, elevated renin
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Treatment: short acting ACE (captopril or enalapril, titratable), may require HD