What causes scleroderma?
It is difficult to say precisely what triggers this autoimmune disease.
Some contributing factors have been identified:
Written by Dr. France Joyal, Vascular and Internal Medicine Associate Clinical Professor University of Montreal Health Centre (CHUM)
Abnormal immune activity
The diagnosis of SSc is primarily based on clinical examination. If a patient does not have symptoms of skin thickening, it is difficult to make a diagnosis, as other symptoms of scleroderma are also found in many other diseases.
Raynaud’s phenomenon, which is a sign of abnormally small blood vessels, is the first clinical sign and can appear several years before any other symptoms. It is recommended that anyone having this symptom be referred to a medical specialist who will make an assessment using a variety of tests, e.g. a nailfold capillaroscopy, blood work and a skin biopsy.
Nailfold capillaroscopy consists in examining the fingertips using a microscope. It can reveal typical abnormal dilation of the small blood vessels (capillaries). Blood tests can be ordered to assess the functioning of organs and the presence of SSc-specific auto antibodies. These tests help diagnose or identify people with a high probability of suffering from this disease (Koenig, 2008).
A skin biopsy can also confirm the diagnosis by revealing, among other things, abnormal collagen deposits and thickening of the blood vessel walls.
Once the diagnosis of scleroderma is clearly established, further tests will help determine the degree of internal organ involvement. These include a chest scan, pulmonary function tests, an electrocardiogram, an echocardiogram (heart ultrasound), a radiograph of the hands and an esophago-gastro-duodenoscopy. More specifically, an esophageal manometry test or a barium swallow will assess the motility of the esophagus.