The goals with testing for scleroderma include diagnosing the condition, distinguishing between different types, evaluating its severity and the degree of organ involvement, detecting complications, and monitoring the condition over time. The diagnosis is largely based upon clinical signs, with specific laboratory testing ordered to help confirm or rule out scleroderma, and more routine or general testing used to help evaluate the person's health status. When the symptoms and test results are characteristic, diagnosing the condition may be relatively straightforward. In many cases, however, symptoms emerge slowly and may initially be mistaken for other conditions.
The primary tests performed to help diagnose scleroderma are autoantibodies. They include:
- Antinuclear antibodies (ANA) – Positive with a variety of connective tissue and autoimmune disorders. Those with scleroderma typically have a speckled, nucleolar, or centromere pattern test result.
- Scl-70 Antibody (Scleroderma Antibody, Anti-topoisomerase Antibody) – Positive in up to 60% of those with scleroderma.
- Centromere antibody/centromere pattern – Present in 60-80% of those with limited cutaneous scleroderma and strongly associated with CREST.
General and routine testing that may be ordered to help monitor a person's health status may include:
- Complete Blood Count (CBC) – to evaluate red and white blood cells
- Comprehensive Metabolic Panel (CMP) – to evaluate organ function and chemical and electrolyte balances
- Lung function tests may be performed when lung involvement is suspected.
- CT (Computed Tomography) scans may be performed to evaluate lung damage.
- X-rays may be done to detect calcium deposits and evaluate lungs.
- Cardiac testing and monitoring may be performed when heart involvement is suspected.