Scleroderma, Not Just the "Hard Skin" Disease

Patient Expert

To kick off Scleroderma Awareness Month, twenty-four athletes will swim, bike and run to spread awareness about scleroderma and pulmonary arterial hypertension (PAH) in the Escape from Alcatraz triathlon on June 5, 2011.

What is scleroderma?

Scleroderma is a chronic autoimmune rheumatic disease in which the body attacks its own connective tissue.   It is often, but not necessarily, progressive and can range from very mild to life-threatening.   Scleroderma is a disease which causes a thickening, tightening or hardening of the skin and internal organs.   It can cause serious damage to the lungs, heart, kidneys, esophagus, and gastrointestinal tract of patients living with the disease.

The term scleroderma comes from the Greek - "sclero" meaning hard and "derma" meaning skin.   There are two main types of scleroderma - localized and systemic.   Localized scleroderma can be morphea or linear.   Systemic scleroderma (SSc) can manifest in one of three forms - diffuse cutaneous systemic sclerosis, limited cutaneous systemic sclerosis, and systemic sclerosis sine scleroderma (a rare form of the disease).   Early symptoms of diffuse sclerosis include puffy hands, Raynaud's phenomenon, and joint pain or arthritis.

Who develops scleroderma?

According to the Scleroderma Foundation, about 300,000 people in the United States live with the incurable disease of which about one third have the systemic form.   Scleroderma develops most frequently in persons aged 25-55, with the average age of diagnosis in the 40's.   Children diagnosed with the disease more commonly have localized scleroderma, whereas adults more commonly have systemic scleroderma.   Approximately 75-80 percent of scleroderma patients are female.

What is CREST syndrome?

CREST syndrome is the term previously used to identify the disease which is now referred to as limited cutaneous systemic scleroderma, or simply limited scleroderma.   CREST is an acronym which helps to describe characteristics of the disease.   The letters represent the following:

Although limited scleroderma is the preferred term used by rheumatologists, the term CREST syndrome may be used for its simplicity.   It is important to be aware that limited scleroderma however does affect more than these five indications of disease.   Limited scleroderma can also affect the organs.

Scleroderma and lung disease

Lung disease is a leading cause of death in patients with systemic sclerosis.   Pulmonary arterial hypertension (PAH) is abnormally high blood pressure in the arteries of the lungs. The resultant back pressure makes the right side of the heart work harder.   Pulmonary arterial hypertension may occur in 25-50 percent of persons with limited scleroderma.   Symptoms include shortness of breath, dizziness and fatigue.   The severity of the symptoms usually correlate to the progression of the disease.

Interstitial lung disease, including pulmonary fibrosis (PF), occurs in about 10 percent of the patients living with limited scleroderma.   Pulmonary fibrosis occurs when lung tissue becomes damaged and scarred.   This thickened, stiff tissue makes it more difficult for lungs to work properly.   As pulmonary fibrosis worsens, one becomes progressively more short of breath.

Digestive problems and scleroderma

Seventy-five to ninety percent of persons living with systemic sclerosis have difficulty with their gastrointestinal tract.   Scleroderma can effect the esophagus, stomach, small intestine (small bowel), large intestine (colon), rectum, and liver.   A decreased blood supply to the nerves which stimulate the digestive system causes progressive weakening of muscle strength and tone which results in a slowing and dis-coordination of the motility (motion) of the gastrointestinal tract.

Scleroderma patients often experience GERD (gastro-esophageal reflux disease) as a result of a weakened sphincter muscle at the base of the esophagus and top of the stomach.   The stomach acid which regurgitates upward not only causes heartburn but can cause scarring and narrowing of the esophagus.   Stomach acid can even travel into the lungs causing inflammation, pneumonia, and eventually pulmonary fibrosis.

Scleroderma patients may develop gastroparesis, a condition where the stomach muscles become "paralyzed" and contents of the stomach are very slow to empty into the small intestine.   Similar motility issues can extend further into the gastrointestinal track.

What are treatments for scleroderma?

Although scleroderma is an incurable disease, it may be treated with various medications that improve circulation, reduce heartburn and neutralize stomach acid, stimulate gastrointestinal muscle contractions, soften stool, decrease bacterial overgrowth in the bowels, suppress inflammation, relieve pain, alleviate dry mouth, and more.   Disease-modifying anti-rheumatic drugs (DMARDs) including plaquenil, sulfasalazine, and methotrexate may be used, as well as immune suppressers including azathioprine (Imuran), cyclophosphamide (Cytoxan), and cyclosporine (Neoral), and mycophenolate mofetil (Cellcept).

For More Information:

If you are interested in learning more about scleroderma and related diseases, make time to explore the enormous amount of medically referenced and documented information available from the International Scleroderma Network.   The Scleroderma Foundation also offers detailed articles on various aspects of the disease.