Scleroderma (Systemic Sclerosis)¶
Eva Niklinska and Raeann Whitney
Background¶
- Distinguish from localized scleroderma (morphea or linear scleroderma) which is dermal fibrosis without internal organ involvement
- 2 Major Subtypes of Generalized / Systemic Scleroderma (SSc):
- Limited cutaneous (lcSSc): Skin thickening limited to the neck, face, or distal to elbows and knees; spares the truck and proximal extremities. Raynaud’s may develop years before other manifestations, which then slowly accumulate over 5-10 years.
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- anticentromere antibody
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- Renal crisis is rare
- High risk for developing PAH
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- Diffuse cutaneous: skin thickening extends proximal to the elbows/knees or trunk; rapid development of cutaneous and multiorgan involvement
- More associated with anti-Scl-70 ab
- Typically more abrupt onset and rapid progression compared to limited
- High risk for progressive ILD
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- RNA polymerase III Ab = high risk of renal crisis, higher risk for malignancy
- Limited cutaneous (lcSSc): Skin thickening limited to the neck, face, or distal to elbows and knees; spares the truck and proximal extremities. Raynaud’s may develop years before other manifestations, which then slowly accumulate over 5-10 years.
Presentation¶
- CREST: Calcinosis cutis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia (CREST syndrome is no longer a discrete diagnosis but incorporated into lcSSc)
- Systemic: fatigue, weight loss
- Vascular: Raynaud’s ± digital tip ulcers, telangiectasias, nailfold capillaroscopy with dilated capillary loops
- Skin: Sclerodactyly, loss of facial wrinkles, decreased oral aperture
- MSK: arthralgias, myalgias, flexion contractures
- GI: Esophageal or intestinal dysmotility, GERD, GAVE (watermelon stomach)
- Pulm: ILD (NSIP, UIP), pulmonary arterial hypertension
- Cardiac: pericardial effusions, myocarditis, cardiomyopathy, conduction system disease
- Renal: renal crisis (onset of malignant HTN, greatest risk in first 5 years)
Evaluation¶
- 2013 ACR/EULAR Classification Criteria à weight-based symptom scoring
- Labs: ANA w/ Reflex, Scl70, anticentromere, RNA pol III (separate order in Epic, increased risk of scleroderma renal disease)
- Imaging/Procedures: Baseline PFTs, lung HRCT, TTE, EKG, 6-minute walk test
- Skin biopsy: Not often used for dx, may be required to differentiate other rare disorders (eosinophilic fasciitis, scleroderma, scleromyxedema)
| 2013 ACR/EULAR Classification Criteria 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-ScL 70], anti-RNA polymerase III) | 3 | |
| Pts with a total score of ≥9 are classified as having definite systemic sclerosis (sensitivity 91%, specificity 92%) | ||
Management¶
- Organ-Based Symptomatic Therapy
- Raynauds: CCB (amlodipine, nifedipine), topical nitroglycerin
- GERD: PPI
- Renal: Monitor BP and Cr
- Scleroderma renal crisis: Abrupt onset of HTN and renal dysfunction that typically presents early in disease course (can precede skin thickening)
- Labs: Elevated Cr, proteinuria, MAHA, elevated renin
- Treatment: Short acting ACEi (captopril, enalapril), may require HD
- ILD: Periodic PFTs (isolated DLCO may suggest PAH); monitor for respiratory symptoms, pulmonology referral
- Cardiac/PAH: annual TTE, cardiology referral
- Systemic Immunosuppression (if progressive skin thickening or organ involvement)
- MTX, MMF, cyclophosphamide, if refractory rituximab, IVIG
- Nintedanib may be used in combination with immunosuppression