Dr. Steeve Provencher’s presentation entitled: Systemic sclerosis-associated pulmonary arterial hypertension (PAHT), delivered at the 17th Annual National Scleroderma Conference in Montreal on September 17, 2016.
Dr. Jean-Luc Senécal’s presentation entitled: Scleroderma Research: From patients to the lab and back, delivered at the 17th Annual National Scleroderma Conference in Montreal on September 17, 2016.
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Is scleroderma an autoimmune disease?
The role of the immune system is to protect the body from foreign invaders, such as viruses and bacteria. Sometimes, however, this system goes awry and the immune response, which normally targets only outside elements, turns against the body’s own cells, attacking them, resulting in the production of large quantities of autoantibodies. Some studies suggest that scleroderma is an autoimmune disease. The main evidence for this notion is the fact that SSc patients have specific autoantibodies. In the case of scleroderma, fibroblast cells (a type of cell in the body which produces collagen and is important in wound healing) are abnormally overactivated and overproduce collagen that spreads throughout the skin and various internal organs, causing inflammation, leading to tissue fibrosis (scarring).
Is scleroderma a hereditary disease?
At present, it is unclear what exactly triggers this autoimmune disease. Research is being conducted to find out if there is a genetic susceptibility to scleroderma, but as yet the disease does not appear to be hereditary. There is no direct cure for scleroderma. Because the exact cause is unknown, any treatment is patient-specific and aimed at making symptoms of the disease more tolerable. Thus, it is imperative to continue research to find the underlying causes of this disease, develop new treatments to adequately relieve patients and, ultimately, find a cure that will allow patients to overcome scleroderma.
What are the symptoms of scleroderma?
Thickening and decreased flexibility of the skin of the fingers and other body parts is characteristic of scleroderma. Raynaud's phenomenon is almost always present, although it should be noted that about 4% of the general population also has Raynaud and most of these people will never develop scleroderma. Painful ulcers can occur at the fingertips. The fingers can gradually become fixed in a bent or flexed position. Arthritis (joint pain and swelling) and muscle weakness may also occur. Esophagus involvement can cause heartburn, regurgitation and difficulty swallowing. Small intestine involvement may cause an intestinal obstruction and reduce the ability to absorb food. The lung or heart involvement can cause shortness of breath. The involvement of the kidneys can manifest itself as a severe arterial hypertension crisis and reduced kidney function (renal failure). Some patients have a significant weight loss, while others have a persistent pruritus (itchy skin). Fatigue and decreased ability to carry out daily activities are pervasive. Scleroderma is a major cause of physical and moral suffering and decreased quality of life.
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