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

From the Guidelines

Diagnosing scleroderma requires a comprehensive approach combining clinical evaluation, laboratory tests, and often imaging studies, 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 (particularly of fingers and hands), Raynaud's phenomenon, telangiectasias, and digital ulcers. Blood tests are essential, including antinuclear antibodies (ANA), which are positive in over 95% of patients, and specific autoantibodies like anti-Scl-70 (associated with diffuse cutaneous scleroderma) and anti-centromere antibodies (more common in limited cutaneous scleroderma) 1.

Some key points to consider in the diagnosis of scleroderma include:

• The importance of nailfold capillaroscopy in identifying characteristic capillary abnormalities 1
• The role of skin biopsy in confirming excessive collagen deposition 1
• The need for internal organ involvement assessment, including pulmonary function tests, high-resolution CT scans of the lungs, echocardiography for cardiac evaluation, and gastrointestinal studies 1
• The heterogeneity of the condition, which means diagnosis often requires evaluation by rheumatologists experienced with connective tissue diseases 1

Early diagnosis is crucial as prompt treatment can help manage symptoms and potentially slow disease progression, though there is currently no cure for scleroderma. The condition's heterogeneity means diagnosis often requires a multidisciplinary approach, and a comprehensive diagnostic workup should be guided by the most recent evidence-based recommendations, such as those from the European League against Rheumatism (EULAR) 1.

From the Research

Scleroderma Diagnosis

• Scleroderma is a rare disease characterized by skin thickening and vascular abnormalities, with approximately 80% of patients being females, and one-half presenting before the age of 40 2.
• The disease can be classified into two major clinical subsets: systemic sclerosis (SSc) and localized scleroderma (LoS), with SSc being a complex systemic autoimmune disorder and LoS being confined to the skin and/or subcutaneous tissues 3.
• Diagnosis of scleroderma can be guided by the presence of characteristic autoantibodies such as ANA, anticentromere, and anti-Scl-70 antibodies, with ANA specificities associated with distinct clinical patterns of organ and skin involvement 4.
• A points system has been established to evaluate patients with early scleroderma and those with scleroderma spectrum disorders (SSD), taking into account factors such as extent of skin sclerosis, pulmonary changes, antinuclear antibodies, pattern of Raynaud's phenomenon, and nailfold bleeding 5.
• Laboratory diagnostics play a crucial role in the diagnosis and monitoring of systemic scleroderma, with a review of available scientific articles providing information on epidemiology, criteria for diagnosis, pathogenesis, and clinical pictures 6.

Clinical Presentation

• Scleroderma can present with a range of clinical manifestations, including skin thickening, vascular abnormalities, and organ involvement, with the most commonly affected organs being the lung and kidney 2.
• Three major disease subsets are recognized based on the extent of skin disease: limited disease, diffuse disease, and localized disease, with limited disease being defined as skin fibrosis in distal extremities and some areas of face and neck 2.
• Clinical evaluation of scleroderma spectrum disorders using a points system can help differentiate scleroderma and SSD from other connective tissue disorders (CTD) and primary Raynaud's phenomenon (RP) 5.

Diagnostic Criteria

• The diagnosis of scleroderma is based on a combination of clinical and laboratory criteria, including the presence of characteristic autoantibodies and clinical manifestations such as skin thickening and vascular abnormalities 3, 4.
• A review of available scientific articles provides information on epidemiology, criteria for diagnosis, pathogenesis, and clinical pictures of systemic scleroderma 6.
• The points system established for evaluating patients with early scleroderma and those with SSD can help guide diagnosis and monitoring of the disease 5.