What are the diagnostic criteria for Systemic Sclerosis (SSc)?

From the Guidelines

Diagnosing scleroderma requires a comprehensive approach combining clinical evaluation, laboratory tests, and sometimes tissue biopsy, with a focus on early detection and management to improve morbidity, mortality, and quality of life. The diagnosis typically begins with a thorough physical examination looking for characteristic skin thickening, especially of the fingers and hands, along with assessment for Raynaud's phenomenon (color changes in fingers when exposed to cold) 1. Blood tests are essential, particularly antinuclear antibodies (ANA), anti-Scl-70 (associated with diffuse scleroderma), and anticentromere antibodies (more common in limited scleroderma) 1. Nailfold capillaroscopy can reveal distinctive capillary abnormalities. For internal organ involvement, specific tests are needed:

• Pulmonary function tests and high-resolution CT for lung involvement
• Echocardiogram for heart assessment
• Gastrointestinal studies like esophageal manometry Skin biopsy may be performed to confirm diagnosis, showing increased collagen deposition and vascular changes. Early diagnosis is crucial as prompt treatment can help manage symptoms and potentially slow disease progression. Since scleroderma can affect multiple organ systems, a multidisciplinary approach involving rheumatologists, dermatologists, pulmonologists, and other specialists is often necessary for comprehensive care 1.

Key considerations in the diagnosis and management of scleroderma include:

• Identifying patients at high risk of organ involvement, such as those with diffuse cutaneous systemic sclerosis (dcSSc) or certain autoantibodies like anti-RNAPIII 1
• Screening for interstitial lung disease (ILD), pulmonary arterial hypertension, and other complications using a combination of clinical evaluation, laboratory tests, and imaging studies 1
• Monitoring disease progression and adjusting treatment accordingly, with a focus on improving quality of life and reducing morbidity and mortality 1
• Considering the potential benefits and risks of different treatments, including pharmacological and non-pharmacological interventions, and involving patients in shared decision-making whenever possible 1.

Overall, a comprehensive and multidisciplinary approach to diagnosing and managing scleroderma is essential for improving outcomes and quality of life for patients with this complex and heterogeneous disease.

From the Research

Scleroderma Diagnosis

• Scleroderma is a complex systemic autoimmune disorder characterized by inflammation, vasculopathy, and excessive fibrosis of the skin and multiple internal organs 2.
• There are two major clinical subsets of scleroderma: systemic sclerosis (SSc) and localized scleroderma (LoS) 2.
• Antinuclear autoantibodies (ANA) are central to the diagnosis of SSc, and ANA specificities are associated with distinct clinical patterns of organ and skin involvement 3.
• Simple hematological parameters, such as complete blood count (CBC) parameters and neutrophil/lymphocyte (NLR), monocyte/lymphocyte (MLR), and platelet/lymphocyte (PLR) ratios, can be used to predict SSc-related organ involvements 4.

Diagnostic Criteria

• The sensitivity of Raynaud and proximal finger skin thickening for the diagnosis of SSc is only 57%, but the addition of clinically visible mat-like telangiectasias and SSc-related antibodies improves the sensitivity to 97% 5.
• Important diagnostic clues in patients with SSc include Raynaud phenomenon, skin involvement, clinically visible mat-like telangiectasias, and SSc-related autoantibodies 5.
• Autoantibody profiles are predictive of skin and internal organ involvement and disease course, and early diagnosis of SSc with commencement of disease-modifying treatment has the potential to improve patient outcomes 6.

Clinical Features

• Common clinical features of SSc include Raynaud phenomenon, sclerodactyly, clinically visible mat-like telangiectasias, skin involvement above the fingers, lung fibrosis, pulmonary hypertension, and gastrointestinal tract involvement 5.
• The etiopathogenesis of SSc involves vasculopathy and immune system dysregulation occurring on a permissive genetic and epigenetic background, ultimately leading to fibrosis 6.
• Dermatologists can play a key role in the diagnosis and management of SSc, as many of the clinical manifestations that present early signs of disease progression and activity are cutaneous 6.