A new diagnosis of scleroderma doesn’t have to be overwhelming, even though the disease itself is complex. Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. In other cases, a diagnosis may take several months as the disease unfolds and reveals itself, thereby enabling the doctor to rule out other potential causes. In some cases, a diagnosis is never made, because the symptoms that prompted the visit to the doctor go away on their own.

A scleroderma diagnosis is based largely on a thorough evaluation of your medical history, symptoms and findings from the physical exam. Your doctor may also order several lab tests to support the diagnostic process. Depending on your particular symptoms, the diagnosis may be made by a general internist, a dermatologist, an orthopaedist, a respirologist or a rheumatologist. 

Lab tests commonly confirm the presence of specific antibodies in scleroderma patients. Antitopoisomerase-1 (Anti-Scl-70) antibodies appear in up to 30 percent of people with diffuse systemic sclerosis, while anticentromere antibodies are found in the blood of many people with limited systemic sclerosis. Several other scleroderma specific antibodies also exist, although they are less common. When present, these other antibodies are helpful in clinical diagnostics and may provide additional information about specific organ damage risks. Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, lab test results alone cannot confirm a scleroderma diagnosis. A variety of other diagnostic tools are available and may be requested by your doctor.

Some patients present with some, but not all, of the symptoms related to scleroderma. Diagnostic tests are useful in confirming or ruling out a scleroderma diagnosis. These patients may fit into one of the following disease groups:

• Undifferentiated Connective Tissue Disease (UCTD): UCTD is a term for patients who have some signs and symptoms of various related diseases, but not enough symptoms of any one particular disease to make a definitive diagnosis. In these patients the condition hasn’t differentiated into a particular connective tissue disease. Over time, UCTD typically follows three distinct paths: spontaneous improvement, continued undifferentiated symptoms, or progression into a systemic disease such as systemic sclerosis, systemic lupus erythematosus, or rheumatoid arthritis.
• Overlap syndrome: a disease combination in which patients have symptoms and lab findings characteristic of two or more conditions.