Medical Insider – Dr. Cora E. Lim
What is Scleroderma?
(Part 1)
Scleroderma is a systemic autoimmune disease where the immune system mistakenly attacks and damages the body.
The cause of scleroderma is not fully understood, but a lot is known.
The disease most often affects people ages 30 to 50 years but it can develop at any age. Women get scleroderma more often than men.
Scleroderma is a disease of genetic inheritance in many people. However, the genetics are complex. No single gene causes scleroderma. Rather, multiple genes are involved, and many of these genes also increase the risk of developing other autoimmune diseases. This is why with scleroderma it is very rare to have more than one family member affected by scleroderma (<1%), but other family members many have other autoimmune diseases such as lupus, rheumatoid arthritis, multiple sclerosis, or type I diabetes.
Environmental exposures likely have a role in the development of scleroderma. In a small number of cases, scleroderma is caused by specific environmental triggers like extensive exposure to silica dust or polyvinyl chloride. In the majority of people, there is no single environmental cause. Instead, for many autoimmune diseases including scleroderma, multiple environmental factors influence the immune system over the course of people’s lives, ultimately causing the immune system to attack the body.
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Symptoms
Some types of scleroderma affect only the skin, while others affect the whole body.
Localized scleroderma, also called morphea, often affects only the skin on the chest, abdomen, limbs, or scalp but not usually the hands and face. Morphea develops slowly. It is unusual for morphea to spread elsewhere in the body, and it is rare for morphea to invade past the skin and cause internal organ damage.
Systemic scleroderma, also called systemic sclerosis, may affect large areas of skin and organs such as the heart, lungs, or kidneys. There are two main types: limited scleroderma (“CREST syndrome”) and diffuse scleroderma.
Scleroderma affects the body in many ways. In a sense, scleroderma affects the body in three different ways:
A. Thickening or fibrosis from collagen build-up. Typical manifestations of this include:
Skin thickening, especially over the hands and around the mouth. This can limit the use of the fingers and can change a person’s facial appearance.
Thickening of the esophagus and intestines. Involvement of the esophagus is very common in scleroderma and interrupts normal peristalsis or contraction of the esophagus. Symptoms of esophageal dysmotility include difficulty swallowing food as well as acid reflux. Infrequently, scleroderma will also affect the intestines, which can cause bloating, constipation, and sometimes diarrhea.
(TO BE CONTINUED)