Systemic sclerosis (SS) is an autoimmune disorder. This means that it’s a condition in which the body’s immune system attacks its own body. Healthy tissue is destroyed because the immune system mistakenly thinks it is a foreign substance or infection. There are various kinds of autoimmune disorders that can affect different systems of the body.
SS is characterized by changes in the texture and appearance of the skin due to an increase production of collagen, a component of connective tissue. However, the disorder is not confined to skin changes. It can affect blood vessels, muscles, and a number of vital organs such as the heart, digestive system, lungs, and kidneys. Features of systemic sclerosis can be seen in other autoimmune disorders and when this occurs, it is called a mixed connective disorder.
The disease is typically seen in individuals ages 30 to 50 years old, but can be diagnosed at any age. Women are four times more likely than men to be diagnosed with this condition. The symptoms and severity of the condition can vary among individuals and are dependent on the systems or organs involved.
Systemic sclerosis is also called scleroderma and progressive systemic sclerosis, or CREST syndrome. CREST syndrome is actually a limited form of the disorder.
SS may affect just the skin in the early stages of the disease with thickening of the skin with tight, shiny areas around the mouth, nose, and fingers and over other bony areas.
As the skin involvement progresses, patients experience limited movement of these affected areas. Other symptoms include:
- hair loss
- white lumps under the skin (calcium deposits most prevalent in CREST syndrome)
- small dilated blood vessels under the skin surface
- joint pain
- shortness of breath
- dry cough
- difficulty swallowing
- esophageal reflux
- abdominal bloating after meals
A characteristic feature of the skin changes of SS involves the blood vessels. Individuals experience spasms of the blood vessels of the fingers and toes. The extremities then turn white and blue on cold exposure or with extreme emotional stress. This is called Raynaud’s phenomenon.
The exact cause of SS is not known, but there are risk factors that can increase the chances of developing the condition. These risk factors include:
- being Native American or African American
- being female (four times greater risk than men)
- use of certain chemotherapy drugs such as Bleomycin
- being exposed to silica dust and organic solvents
There is no known way to prevent SS, other than to reduce the controllable risk factors (such as chemical exposure).
A physical exam can show skin changes consistent with SS. High blood pressure may be caused by kidney changes from sclerosis. Blood tests like antibody testing, rheumatoid factor, and sedimentation rate may be done. Other diagnostic tests can include:
- blood tests (antinuclear antibodies, rheumatoid factor, sedimentation rate)
- chest X-ray
- computed tomography (CT) scan of the lungs
- skin biopsies
Other tests may be done based on individual symptoms.
There is no one standard treatment for SS. Treatment is typically determined based on a person’s symptoms and the need to reduce the risk of complications. Treatment for generalized symptoms may involve:
- immunosuppressants (methotrexate or cytoxan)
- nonsteroidal anti-inflammatory drugs
Depending on the symptoms, treatment can also include:
- blood pressure medication
- medications to aid breathing
- physical therapy
- light therapy (phototherapy UV1) and nitroglycerin ointment for localized areas of tightening of the skin
There are lifestyle changes you can make to help keep you healthy with scleroderma, including:
- avoiding smoking cigarettes
- remaining physically active
- avoiding foods that trigger heartburn
Some individuals with SS experience progression of their symptoms. Complications can include heart failure, cancer, kidney failure, and high blood pressure. According to the National Institutes of Health, the most common cause of death in patients with systemic sclerosis is pulmonary fibrosis or scarring of the lungs (NIH, 2012).