How is scleroderma diagnosed?
Based on complaints and symptoms, sometimes supported by lab test results. The latter, however, may be normal in some patients. Important is the early diagnosis of Raynaud's phenomenon. If the patient already suffered from it during childhood, it is not important. It need not be mentioned that the diagnosis of localised types of scleroderma is based on the injuries.
The diagnosis of the scleroderma syndrome is based on the finding of the clinical features of the illnesses. Nearly all patients with scleroderma have blood tests which suggest autoimmunity, antinuclear antibodies (ANAs). A particular antibody, the anticentromere antibody, is found almost exclusively in the limited, or CREST, form of scleroderma. Anti-Scl 70 antibody (antitopoisomerase I antibody) is most often seen in patients with the diffuse form of scleroderma.
As soon as the doctor suspects the diagnosis, additional examinations like lung function tests, heart check-up, examination of the kidneys and blood pressure need to be carried out. In case of muscle pains or nerve pains an electromyography and oesophageal manometry (pressure measurement) in case of swallowing difficulties are necessary. The results from these examinations may also contribute to a diagnosis.
Other tests are used to evaluate the presence or extent of any internal disease. These may include upper and lower gastrointestinal tests to evaluate the bowels, chest x-rays, and lung function tests to examine the lungs, EKG and echocardiograms to evaluate the heart and lung arteries.