Scleroderma

What is scleroderma?

Scleroderma is a chronic, although rare, autoimmune disease in which normal tissue is replaced with dense, thick fibrous tissue. Normally, the immune system helps defend the body against disease and infection. In patients with scleroderma, the immune system triggers other cells to produce too much collagen (a protein). This extra collagen is deposited in the skin and organs, which causes hardening and thickening (similar to the scarring process).

Although it most often affects the skin, scleroderma also can affect many other parts of the body including the gastrointestinal tract, lungs, kidneys, heart, blood vessels, muscles and joints. Scleroderma in its most severe forms can be life-threatening.

Forms of scleroderma

There are 2 major forms of scleroderma, localized and systemic. Systemic scleroderma can be broken down into two main types: diffuse and limited.

Localized scleroderma

The more common form of the disease, localized scleroderma, affects only a person's skin, usually in just a few places. It often appears in the form of waxy patches or streaks on the skin, and it is not uncommon for this less severe form to go away or stop progressing without treatment.

Diffuse scleroderma

As its name implies, this form affects many parts of the body. Not only can it affect the skin, but it also can affect many internal organs, hindering digestive and respiratory functions, and causing kidney failure. Systemic scleroderma can sometimes become serious and life-threatening.

Limited scleroderma

Also known as CREST syndrome, each letter stands for a feature of the disease:

• C alcinosis (abnormal calcium deposits in the skin).
• R aynaud's phenomenon (see the symptoms section).
• E sophageal dysmotility (difficulty swallowing).
• S clerodactyly (skin tightening on the fingers).
• T elangectasias (red spots on the skin).

Patients with limited scleroderma do not experience kidney problems. The skin thickening is restricted to the fingers, hands and forearms, and also sometimes the feet and legs. Digestive involvement is confined mostly to the esophagus. Among later complications, pulmonary hypertension, which can develop in 20% to 30% of cases, can be potentially serious. In pulmonary hypertension, the arteries from the heart to the lungs narrow down and generate high pressure on the right side of the heart, which can ultimately lead to right sided heart failure. Early symptoms of pulmonary hypertension include shortness of breath, chest pain, and fatigue.

How common is scleroderma?

Approximately 250 persons per million American adults are affected by scleroderma. It usually develops between the ages of 35 and 55, although a pediatric form also occurs. Scleroderma is four times more common in women than it is in men.

What causes scleroderma?

The exact cause of scleroderma is unknown. Although rarely, scleroderma can run in families. Most cases do not show any family history of the disease. Scleroderma is not contagious.

What are the symptoms of scleroderma?

In addition to the thickening of skin, the following other symptoms may occur in a person with scleroderma:

• Swelling of the hands and feet.
• Red spots on the skin (telangectasias).
• Excessive calcium deposition in the skin (calcinosis).
• Joint contractures (rigidity).
• Tight, mask-like facial skin.
• Ulcerations on the fingertips and toes.
• Pain and stiffness in the joints.
• Persistent cough.
• Shortness of breath.
• Heartburn (acid reflux).
• Difficulty swallowing.
• Digestive and gastrointestinal problems.
• Constipation.
• Weight loss.
• Fatigue.
• Hair loss.

In addition to these symptoms, 2 other conditions—Raynaud's phenomenon and Sjögren's syndrome—also affect patients with scleroderma. Approximately 85% to 95% of scleroderma patients experience Raynaud's phenomenon. However, primary Raynaud's phenomenon is common and often occurs by itself without any underlying connective tissue disorder. Only 10% of patients with Raynaud's phenomenon will develop scleroderma.

Sjögren's syndrome is manifested by dry eyes and mouth. This dryness is due to lack of secretion of tears and saliva as a result of immune damage and destruction of the moisture-producing glands of the body. This condition is named after the Swedish eye doctor, Henrik Sjögren, who first described it. It is seen in approximately 20% of patients with scleroderma.

How is scleroderma diagnosed?

The diagnosis of scleroderma is not always easy. Because it can affect other parts of the body — such as the joints — scleroderma may be initially mistaken for rheumatoid arthritis or lupus.

After discussing your personal family medical history, your doctor will perform a thorough physical examination. In doing so, he or she will be looking for any of the symptoms mentioned above, especially thickening or hardening of the skin around the fingers and toes or discoloration of the skin. If scleroderma is suspected, tests will be ordered to confirm the diagnosis, as well as to determine the severity of the disease. These tests may include:

• Blood tests: Elevated levels of immune factors, known as antinuclear antibodies, are found in 95% of patients with scleroderma. Although these antibodies are also present in other autoimmune diseases such as lupus, testing for them in potential scleroderma patients is helpful in assisting with an accurate diagnosis.
• Pulmonary function tests: These tests are done to measure how well the lungs are functioning. If scleroderma is suspected or has been confirmed, it is important to verify whether or not it has spread to the lungs, where it can cause scar tissue formation. An X-ray or computed tomography (CT scan) may be used to check for lung damage.
• Electrocardiogram: Scleroderma can cause scarring of the heart tissue, which can lead to congestive heart failure and defective electrical activity of the heart. This test is performed to see whether the disease has affected the heart.
• Echocardiogram (an ultrasonogram of the heart): This is recommended once every 6 to 12 months to evaluate for complications like pulmonary hypertension and/or congestive heart failure.
• Gastrointestinal tests: Scleroderma can affect the muscles of the esophagus as well as the walls of the intestine. This can cause heartburn and swallowing difficulty, and can also affect the absorption of nutrients and movement of food through the intestine. An endoscopy (the insertion of a small tube with a camera on the end) is sometimes performed to view the esophagus and the intestines, and a test called manometry can measure the strength of the esophageal muscles.
• Kidney function: When scleroderma affects the kidneys, the result can be an increase in blood pressure as well as the leakage of protein into the urine. In its most serious form (called scleroderma renal crisis), a rapid increase in blood pressure may occur, resulting in kidney failure. Kidney function can be assessed through blood tests.

How is scleroderma treated?

Currently, there is no cure for scleroderma. Instead, treatment is directed at controlling and managing the symptoms. Because scleroderma can have many symptoms, a combination of approaches is often needed to treat and manage the disease effectively.

• Skin treatments: For localized scleroderma, topical medications often are beneficial. Moisturizers are used to prevent the skin from drying out, as well as to treat hardened skin. To improve blood flow so that sores in the fingers can heal, nitrates such as nitroglycerin are prescribed. Nitrates work by relaxing the smooth muscles, causing the arteries to dilate (widen). Smooth muscles are those that generally form the support blood vessels and some internal organs. Nitrates can have side effects such as dizziness, nausea, rapid heartbeat and blurred vision, so it is important to discuss with your doctor whether or not they may be right for you.
• Digestive remedies: A variety of medications may be prescribed to help patients with heartburn and other digestive difficulties. These include over-the-counter and prescribed antacids, proton pump inhibitors (like Prevacid®, Protonix®, or Nexium®) and H 2 receptor blockers (like Zantac® or Pepcid®). Proton pump inhibitors work by preventing the proton or acid pump in the stomach from allowing stomach acid to be secreted. H 2 receptor blockers work by blocking histamine, a body chemical that promotes the production of acid in the stomach.
• Treatment of lung disease: For patients with scleroderma who have rapidly worsening pulmonary fibrosis (scarring of the lung tissue), the drug cyclophosphamide (Cytoxan®) - a form of chemotherapy - has been proven to be useful in a recent NIH study. This study showed the effectiveness of oral cyclophosphamide in improving lung function and the quality of life in scleroderma patients with interstitial lung disease.

For pulmonary hypertension, the most successful treatment is continuous intravenous infusion of epoprostenol (Flolan®), a prostaglandin, through a pump. Subcutaneous infusion of treprostinil (Remodulin®) – a related prostaglandin – is an acceptable alternative. Prostaglandins are hormone-like substances found in the body that, among other things, help relax the smooth muscle, and hence dilate blood vessels. Other forms of therapy that are currently FDA approved for pulmonary hypertension include oral bosentan (Tracleer ®), sildenafil (Revatio ®) and inhaled iloprost (Ventavis®).

Lung transplant is a viable option for both severe (drug refractory) interstitial lung disease and pulmonary hypertension.

• Joint difficulties: For patients with scleroderma who experience joint problems, anti-inflammatory drugs may be prescribed. These drugs work by reducing inflammation and hence the pain and swelling. Physical therapy to prevent joints from contracting can sometimes be helpful.
• Raynaud's phenomenon: Effective medications include vasodilators like calcium channel blockers (Procardia ® or Norvasc®), nitroglycerine patches/ointment, alpha blockers and sildenafil. Anti-platelet drugs such as aspirin are often added. For ischemic digital ulcers oral agents like sildenafil (Viagra®) or preventive use of bosentan (Tracleer®) can be useful. For fingers with severe ulceration or impending gangrene, hospitalization for a trial of intravenous epoprostenol (Flolan®) or alprostadil is appropriate. Infected ulcers need local wound care and a prolonged course of appropriate antibiotics.
• Sjögren's syndrome: Although it cannot be cured, the symptoms can be relieved. Dry eyes can be treated with artificial teardrops, and cyclosporine eye drops (Restasis®). Dry mouth can be alleviated by sipping liquids or chewing gum. In more severe cases of dry mouth, drugs that stimulate the production of saliva (Evoxac® or Salagen®) may be prescribed.
• Kidney problems: Depending on the severity of the disease, kidney problems related to scleroderma can be managed and treated using medications (especially Angiotensin Converting Enzyme (ACE) inhibitors) and dialysis.

Management of scleroderma

In addition to taking prescribed medications correctly and regularly, there are many steps a person with scleroderma can take to better manage the disease. These include:

Exercise

Regular exercise will not only help improve your overall physical and spiritual well-being, but it will also help keep your joints flexible and improve circulation. Consult your doctor or physical therapist for appropriate exercises.

Joint protection

When your joints hurt, avoid lifting heavy objects or performing chores that may place a strain on them, thus risking further injury. A physical therapist can help you learn new ways to perform daily activities without placing undue strain on your joints.

Skin protection

Taking proper precautions and care of your skin can be beneficial not only for symptoms of Raynaud's phenomenon, but also in taking care of the dry, thick patches of skin that result from localized scleroderma. There are many ways to accomplish this, including:

• During the colder months, be sure to dress appropriately. Keeping your body warm and protected from the cold weather with boots, a hat, gloves and a scarf will help keep the blood vessels in your extremities open and your circulation flowing.
• Wear multiple thin layers. These will keep you warmer than wearing one thick layer.
• Wear loose-fitting boots or shoes to keep the blood supply moving to your feet.
• Put a humidifier in your house to help keep the air moist.
• Use soaps and creams that are designed especially for dry skin.

Diet

Aside from eating healthy foods to get the proper amounts of vitamins and nutrients, it is important to eat foods that do not aggravate existing stomach problems. Ways to do this include:

• Avoiding foods that cause heartburn.
• Drinking water or another liquid to soften food further.
• Eating high fiber foods to cut down on constipation.
• Eating more, smaller meals as opposed to three large meals. This enables the body to digest the food more easily. If you eat a large meal, wait at least four hours before lying down.
• Raising the head of your bed about six inches by placing blocks or bricks underneath it. This will prevent stomach acid from entering the esophagus while you are sleeping.

Dental care

For those patients with scleroderma who also have Sjögren's syndrome, proper dental care is essential. Sjögren's syndrome increases the risk of developing cavities and tooth decay.

Stress management

Because the effects of stress can play a part in reducing your blood flow, as well as affect many other aspects of your emotions and health, it is important to learn to manage or reduce stress. This can be done by taking the following steps:

• Getting proper sleep and rest.
• Avoiding stressful situations when possible.
• Eating a healthy diet.
• Learning methods to control anxieties and fears.
• Exercising.

Although no cure has been found for scleroderma, the disease is very often slowly progressive and manageable, and people who have it may lead healthy and productive lives. Like many other conditions, education about scleroderma and local support groups can be the greatest tools for managing the disease and reducing the risk of further complications.