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Scleroderma, also known as systemic sclerosis, is a chronic disease that causes skin thickening and tightening, and can involve fibrosis and other types of damage to internal body organs. This condition, thought to be an autoimmune disease, affects both adults and children, most commonly adult women. While effective treatments are available for some manifestations of the disease, scleroderma is not yet curable.

Scleroderma is a relatively uncommon problem affecting only 200 to 300 people per million in the U.S. Some 12 to 20 new cases per million are diagnosed annually.

Although the underlying cause of scleroderma is not known, promising research is shedding new light on the relationship between the immune system and scleroderma.

Medicines traditionally used to treat other autoimmune diseases – such as rheumatoid arthritis and lupus – often have little effect on scleroderma.

Increasingly, different aspects of scleroderma are becoming treatable.

WHAT IS SCLERODERMA?

There are actually several types of scleroderma and related diseases with complications ranging from minor to life-threatening. Therefore, the terminology describing the various forms of scleroderma can be confusing.

The two broad categories are a) “localized scleroderma” which indicates distinct skin lesions and b) "systemic sclerosis" (scleroderma) which indicates more uniform skin involvement and the potential for internal organ disease. Other diseases that also affect the skin may be confused with scleroderma including scleredema, scleromyxedema, eosinophilic fasciitis, and nephrogenic systemic fibrosis.

Localized Scleroderma

Each of the several forms of localized scleroderma is a disorder of skin and sometimes the deeper tissues. The most visible effects of the disease are skin lesions often referred to as morphea. In some cases, this localized scleroderma is just a cosmetic problem. However, for those with more widespread skin lesions over their body (generalized morphea or linear scleroderma), in which thickness and scarring spreads down to the underlying structures including fat, muscle and, on rare occasion, bone, the disease can be more serious. Another pattern of localized scleroderma called en coup de sabre can particularly involve the face. Localized scleroderma including deep and extensive lesions can prevent normal motion of joints and interfere with daily activities. However, localized scleroderma does not affect internal organs of the body.

Systemic Sclerosis (Scleroderma)

Systemic scleroderma is divided into two sub-sets: a) “limited” cutaneous systemic sclerosis (scleroderma) in which skin involvement is limited to forearms, hands, legs, feet, and face; and b) “diffuse” cutaneous systemic sclerosis (scleroderma) which can affect the skin over almost any body area. The skin changes are caused by an increase of collagen and other proteins that lead to thickening and hardening of the skin. This accumulation also can occur in other organs including the lungs, the heart and the gastrointestinal tract. Internal organ involvement can include kidneys, lungs, heart, gastrointestinal tract, and the vascular system.

The earliest changes in the body in systemic scleroderma are:

Activation of the immune system which may cause tissue damage, particularly in the lungs, as well as inflammation and swelling in the skin. The extent of skin and internal organ involvement dictates whether the diagnosis is labeled as “limited cutaneous systemic sclerosis” or “diffuse cutaneous systemic sclerosis.”

Damage of blood vessels. For instance, Raynaud's phenomenon, an abnormal reaction of blood vessels to the cold, is caused by structural damage of vessels in the hands, as well as elsewhere in the body. Other blood vessel problems can cause poor blood flow and lead to severe damage such as finger ulcers or gangrene.

These changes then lead to fibrosis (scarring) and other forms of damage in multiple organs.

The cause of scleroderma is not yet proven. Genetic factors appear to predispose patients to the disease, but whether scleroderma is the result of some combination of genetic factors and other exposures is unknown. For instance, some data suggests that exposure to industrial solvents or an environmental agent may play a role in predisposing to scleroderma. Scleroderma-like syndromes also have been clearly linked to agents as varied as contaminated rapeseed oil, polyvinylchloride, and a contaminant in one preparation of L-tryptophan. That said, the vast majority of patients with scleroderma do not have a history of exposure to any suspicious toxins.

Who gets scleroderma?

Scleroderma is a relatively rare illness affecting only 75,000 – 100,000 people in the United States. Of these, 75% percent are women usually diagnosed between the ages of 30 and 50 years. Twins and family members of patients with scleroderma or other autoimmune connective tissue diseases, such as systemic lupus erythematosus, appear to be at a slightly increased risk. Children can get scleroderma, although the pattern and extent of disease may be different in children.

This image shows diffuse soft-tissue swelling of the digits, characteristic of the early edematous phase of scleroderma.

How is scleroderma diagnosed? A scleroderma diagnosis is based primarily on a combination of a person's description of symptoms (history) and physical examination findings. Laboratory tests and x-rays may help in evaluating a patient with suspected scleroderma or find that someone actually has another disease, but no one test makes the diagnosis certain. For instance, blood tests for autoantibodies are often used in helping to make the diagnosis, but the presence or absence of these antibodies is not, in and of itself, conclusive.   Scleroderma is diagnosed as the result of an unusual thickening or swelling of the skin, especially on the hands and extending up the arms, as well as dilated blood vessels in the face, hands, nail folds and elsewhere. Some patients develop cutaneous deposits of calcium (calcinosis), and characteristic involvement of other organs including the lungs, muscle inflammation, and the kidneys.   Almost all (more than 90%) of people with scleroderma also have Raynaud's phenomenon. Many people with scleroderma also have heartburn and difficulty swallowing. However, since Raynaud's phenomenon and heartburn can be caused by many other conditions, they are not specific disease indicators.   How is scleroderma treated? Unfortunately, while some treatments have proven effective in treating the disorder, scleroderma is not yet curable. Much research has gone into addressing the various manifestations of the disease, but no drug has been found that can arrest or reverse the skin thickening that is the hallmark of disease.   For patients with Raynaud's phenomenon, a variety of drugs that dilate blood vessels (“vasodilators”) such as calcium channel blockers are available. Several newer vasodilators are now being considered for treatment of Raynaud's phenomenon and digital ulceration in scleroderma, including drugs available to treat male erectile dysfunction (PDE-5 inhibitors such as sildenafil, vardenafil, tadalafil); we await more definitive data on these drugs' effectiveness. Keeping one's fingers and toes warm and adequately protected from exposure to cold, as well as keeping one's core body (trunk) warm has proven effective in preventing attacks and subsequent damage. Protective measures to avoid trauma to the finger tips are also important.

Similarly, there are drugs that can alleviate the symptoms of heartburn and prevent damage to the esophagus, especially “proton pump inhibitors.” These drugs, coupled with physical measures such as elevating the head of the patient's bed, can make a difference. Still other drugs can improve bowel function.

For those with scleroderma kidney disease, early recognition is critical. Therefore, patients with diffuse scleroderma should monitor their blood pressure several times a week. Early intervention with a type of blood pressure medication called angiotensin converting enzyme inhibitors (ACE inhibitors) has been shown to be extremely effective in treating early scleroderma renal involvement and helping to prevent renal damage. The use of these drugs has been a major advance for patients with scleroderma.

There are two main types of lung disease that some patients with scleroderma may develop: interstitial lung disease (inflammation and scarring) and pulmonary hypertension (increased pressure in the arteries of the lung).

Clinical trials have demonstrated that cyclophosphamide is somewhat effective in treating the interstitial lung disease in scleroderma. Clinical trials are underway assessing the effectiveness of several other agents for this condition. Pulmonary hypertension can occur in both the limited and diffuse forms of scleroderma. A number of agents have become available in the last 10 years to treat pulmonary hypertension, including prostacyclin-like drugs (epoprostenol, treprostinol, iloprost) and the endothelin receptor antagonists (bosentan, ambrisentan), and PDE-5 inhibitors (sildenafil, vardenafil, tadalafil). These treatments, and those being tested in current research trials, may provide significant benefit to patients with lung disease in scleroderma.

For patients with weakness and muscle disease associated with scleroderma, glucocorticoids (such as prednisone), intravenous immunoglobin (IVIg), and/or immunosuppressive medications may be effective treatments.

Much research is ongoing into new treatments for scleroderma. Patients and their families should know that experts remain optimistic and work towards a cure will continue.

Broader health impact of scleroderma

Scleroderma can involve almost every organ system including the skin, vascular system, lungs, gastrointestinal tract, heart, joints, muscles, etc. Further, this disease varies greatly from patient to patient and can dramatically impact someone's life. Patients should receive care from a specialist (and often a team of specialists) with expertise in the management of scleroderma. Patients also benefit from support from family and friends, and learn to live with the disease to maintain a good quality of life.

Living with scleroderma

Living with this condition requires mental and physical changes. First, there is the adjustment to an altered appearance and self-image from the obvious physical feature changes associated with disorder. On a physical level, intestinal involvement may require changes in diet with frequent small meals rather than the usual large ones. Keeping the skin well lubricated and using appropriate precaution during activities conducive to finger injury (gardening, cooking, opening envelopes) is equally important. Dressing appropriately to maintain body warmth and protect from peripheral blood vessel disease means layering clothing to the point of warmth as well as adjusting surrounding temperatures where possible. Unfortunately, moving to a warmer climate does not necessarily lead to dramatic improvement perhaps due to use of air conditioning. Exercise and/or physical therapy is also important to maintain mobility of joints, which are affected by scarring of the tissues in and around the joints.

Scleroderma differs from person to person, but can be a very serious disease.

Some people will find that physical measures and medications will help control Raynaud's phenomenon and heartburn.

Effective treatments are available even for patients with severe disease, including acute kidney disease, pulmonary hypertension, and lung inflammation.

The key is to recognize organ involvement early and treat it before irreversible organ damage occurs.

Patients with scleroderma should be seen by physicians with specialized expertise in the care of this complex disease.

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