From the Guidelines
Diagnosing and treating scleroderma requires a comprehensive approach, including clinical evaluation, laboratory tests, and organ-based treatment, with the goal of improving morbidity, mortality, and quality of life, as recommended by the most recent EULAR guidelines 1. To diagnose scleroderma, a combination of clinical evaluation and laboratory tests is necessary. Blood tests, including antinuclear antibody (ANA) testing, anti-Scl-70, and anticentromere antibodies, are essential for diagnosis. Additional tests, such as complete blood count, comprehensive metabolic panel, erythrocyte sedimentation rate, and C-reactive protein, help assess inflammation. Imaging studies, including chest X-rays, pulmonary function tests, echocardiograms, and high-resolution CT scans, evaluate organ involvement. Skin or lung biopsies may be necessary in some cases.
Treatment for scleroderma is primarily symptom-based, as there is no cure.
- For skin manifestations, moisturizers are recommended, while medications like methotrexate or mycophenolate mofetil may help with skin thickening, as supported by the EULAR guidelines 1.
- Raynaud's phenomenon is treated with calcium channel blockers, such as nifedipine or amlodipine, and phosphodiesterase-5 inhibitors or intravenous iloprost, as recommended by the EULAR guidelines 1.
- Gastrointestinal symptoms are managed with proton pump inhibitors, such as omeprazole, for reflux and prokinetic agents for motility issues.
- Pulmonary arterial hypertension may require endothelin receptor antagonists, phosphodiesterase-5 inhibitors, or prostacyclin analogs, as recommended by the EULAR guidelines 1.
- Interstitial lung disease often requires immunosuppressants, such as cyclophosphamide or mycophenolate mofetil, and anti-fibrotic therapy, such as nintedanib, as supported by recent studies 1. Regular monitoring of organ function is essential, as scleroderma can progress and affect multiple body systems over time. The EULAR guidelines recommend a personalized treatment approach, taking into account the individual patient's disease characteristics, organ involvement, and response to treatment, to improve morbidity, mortality, and quality of life 1.
From the Research
Diagnostic Tests for Scleroderma
- The diagnosis of scleroderma is based on a combination of clinical features, laboratory tests, and imaging studies 2, 3, 4.
- Laboratory tests include:
- Anti-Scl-70 autoantibodies, which are specific markers of systemic sclerosis and are found in 77% of cases of diffuse scleroderma and 44% of acrosclerosis 5.
- Anti-centromere autoantibodies, which are markers of a benign, abortive subset of acrosclerosis with almost no cutaneous involvement (CREST) 5.
- Antinuclear antibodies (ANA), which are positive in 87.9% of patients with systemic sclerosis 6.
- Imaging studies include:
- Chest X-ray, which may show abnormal findings in 54.5% of patients with systemic sclerosis 6.
- High-resolution computed tomography (HRCT) of the chest, which may show abnormal findings in 81.8% of patients with systemic sclerosis 6.
- Pulmonary function tests (PFT), which may show abnormal findings in 96.9% of patients with systemic sclerosis 6.
Treatment Options for Scleroderma
- Treatment of scleroderma is difficult and currently, no treatment can induce complete remission of the disease 6.
- Treatment options include:
- Oral methotrexate, which has been shown to provide subjective improvement in symptoms such as binding down, Raynaud's phenomenon, fingertip ulceration, hyperpigmentation, and dyspnea 6.
- Cyclophosphamide and corticosteroids, which have been used to treat patients with scleroderma and have shown improvement in symptoms and lung function 4.
- The goals of treatment are to reduce morbidity associated with Raynaud's phenomenon, digital ulcers, esophageal dysmotility, esophageal reflux, gut dysmotility, arthralgias, myositis, and pulmonary artery hypertension, and to stabilize lung function in patients with interstitial lung disease and renal function in patients with renal crisis 2.