From the Guidelines
The diagnosis of scleroderma is confirmed by a combination of clinical features, including skin thickening, Raynaud phenomenon, and specific antibodies, as well as imaging and laboratory tests.
Key Diagnostic Features
- Skin involvement: Characterized by thickening and fibrosis, which can be limited (lcSSc) or diffuse (dcSSc) 1
- Raynaud phenomenon: Nearly all patients with SSc have Raynaud phenomenon, and half have digital ulcers 1
- Specific antibodies: Such as anti-centromere, anti-topoisomerase (Scl-70), and anti-RNA polymerase antibodies, which are associated with SSc 1
Diagnostic Tests
- Imaging tests: High-resolution computed tomography (HRCT) of the lungs to assess for interstitial lung disease (ILD) 1
- Laboratory tests: Pulmonary function testing, electrocardiography, and blood tests to assess for organ involvement and specific antibodies 1
Diagnostic Criteria
- American College of Rheumatology (ACR) criteria: Include a combination of clinical features, such as skin thickening, Raynaud phenomenon, and specific antibodies, as well as imaging and laboratory tests 1
- European League against Rheumatism (EULAR) recommendations: Emphasize the importance of early diagnosis and screening for organ involvement, including ILD and pulmonary arterial hypertension (PAH) 1
From the Research
Diagnosis of Scleroderma
The diagnosis of scleroderma can be confirmed by the presence of several key factors, including:
- Raynaud's phenomenon 2, 3
- Antinuclear antibodies (ANA) positivity 2, 3
- Distribution of sclerosis 3
- Scleroderma-specific autoantibodies 4
- Nailfold video capillaroscopy and evaluation of specific disease antibodies (anticentromere and anti-topoisomerase I) 2
Diagnostic Clues
The lack of certain characteristics can also be important diagnostic clues, including:
- Absence of Raynaud's phenomenon 4
- Absence of capillaroscopic abnormalities 4
- Absence of scleroderma-specific autoantibodies 4
Laboratory Diagnostics
Laboratory diagnostics play a crucial role in the diagnosis and monitoring of systemic scleroderma, including:
- Laboratory tests to detect autoantibodies and other biomarkers 5
- Imaging studies to assess internal organ involvement 5
Early Diagnosis
Early diagnosis of systemic scleroderma is essential to prevent disease progression and improve patient outcomes, with a focus on: