June 9, 2003

 

 

Scleroderma Remains a Mystery that Affects Many

 

June is the month that has been designated as National Scleroderma Awareness Month, a disease shrouded in mystery that few know about.   Although once considered a rare condition (one source estimates a range of 40,000 to 165,000 affected people in the United States), the Scleroderma Research Foundation believes the number of people in this country affected by some form of scleroderma is more than 300,000.  This figure rivals the number of cases of other more familiar diseases, such as multiple sclerosis, cystic fibrosis, or muscular dystrophy.

 

The term “scleroderma” literally means “hard skin.” The name refers to the symptom most characteristic of this disease – an overproduction of collagen, a protein, in the skin and connective tissue, which hardens the tissue and makes it immobile.  This excessive accumulation of collagen is also known as fibrosis.  Scleroderma appears to be more prevalent in the United States than in other countries, and nearly 4 times as many women as men are affected.  While this disorder can occur at any age, it typically begins in mid-life. Symptoms range from mild to life threatening, and they may be visible, as when the skin is involved, or invisible, when just internal organs are affected.

 

A highly individualized disease, a number of symptoms may be manifested, alone or in combination.  These include swelling of the hands and feet, Raynaud’s syndrome (a vascular condition characterized by abnormal sensitivity to cold in the extremities), joint pain and stiffness, arthritis, weight loss, general fatigue, hair loss, discoloration of the skin, contractures of the joint, digestive and gastrointestinal problems (difficulty swallowing and heartburn, for example), shortness of breath, dry mucous membranes (Sjogren’s Syndrome), thickening of the skin, oral, facial and dental problems, and difficulties involving the kidney, heart or lungs. 

 

There are two major types of scleroderma:  localized and systemic.  Localized scleroderma is not as serious as systemic, but both are characterized by fibrosis.  Only the skin is affected in localized scleroderma, while both the skin and internal organs are affected in systemic scleroderma.  While it is not life threatening, the localized form of this disorder can be disfiguring and quite painful.  It is more common in children than systemic scleroderma, and rarely develops into the more serious systemic version.

 

Systemic scleroderma can affect many parts of the body.  Raynaud’s syndrome is the primary symptom, accompanied by spasms of the vascular system in the extremities.  This destroys some of the blood vessels, impeding circulation and leading to painful ulcers of the skin.  Inflammation and swelling of the joints occur, and the skin swells and tightens, especially in the hands and face, reducing mobility.  As the disease progresses, more and more internal organs become involved, leading to serious complications related to the gastrointestinal tract, the pulmonary system, and the kidneys.  The most dangerous complication is the potential for heart failure. The disease may progress quickly or over decades.

 

The cause of scleroderma is unknown.  There may be a genetic predisposition to the development of this disease, but it is rare for direct family members of a person with scoleroderma to contract this disorder.  There is also some evidence that some types of scleraderma may have an environmental link.  It is classified as an autoimmune disease, usually in the family of rheumatic diseases.  It is not contagious, nor is it related to cancer.

 

As yet, there is no cure for scleroderma, nor have any therapies been proven to halt the progression of the disease.  Many people experience the pain, deterioration, and debilitation of this disease, and many die from it.  There are, however, some promising treatments on the horizon.  In the meantime, specific treatments, including drugs and physical therapy, can reduce or relieve the symptoms and improve functioning for longer periods of time. 

 

While more people than previously believed may have scleroderma, many physicians remain unfamiliar with this condition.  It is often necessary to consult with several types of physicians before an accurate diagnosis can be made, and several types of doctors and therapists will undoubtedly be needed to treat the disease once diagnosed.  Generally, a rheumatologist, who specializes in pain and inflammation of the muscles, joints, and soft tissue, will be needed.  A dermatologist, specializing in skin disorders, and an internist, who has knowledge of the entire body, will also be required.  As the disease progresses, other specialists may become involved, such as gastroenterologists, pulmonologists, and cardiologists.

 

The person with scleroderma does not have to passively accept a fate of hopeless deterioration, but can assist in his or her own treatment.  Measures such as avoiding exposure to cold, eating a proper diet, and being faithful to physical therapy and an exercise program can reduce some of the discomfort of this disease and help to maintain circulation and mobility for longer periods of time.

 

For further information about scleroderma, the Scleroderma Research Foundation is a good place to start.  The toll-free telephone number is 1-800-441-cure (2873).  The Foundation also can be found on line at http://www.scleroderma.org/.