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).

Causes of 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.

Symptoms of 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

Diagnosis of Scleroderma #

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.

Treatment of Scleroderma #

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.