Scleroderma

Scleroderma is a chronic disease that causes the skin to become thick and hard, a buildup of scar tissue, and damage to internal organs such as the heart and blood vessels, lungs, stomach and kidneys. The effects of scleroderma vary widely and range from minor to life-threatening, depending on how widespread the disease is and which parts of the body are affected.

The two main types of scleroderma are:

Localized scleroderma usually affects only the skin, although it can spread to the muscles, joints and bones. It does not affect internal organs. Symptoms include discolored patches on the skin (a condition called morphea); or streaks or bands of thick, hard skin on the arms and legs (called linear scleroderma). When linear scleroderma occurs on the face and forehead, it is called en coup de sabre.

Systemic scleroderma is the most serious form of the disease, can affect the skin, muscles, joints, blood vessels, lungs, kidneys, heart and other organs. There are two major forms of systemic scleroderma: limited cutaneous systemic sclerosis (formerly called CREST syndrome) and diffuse cutaneous systemic scleroderma.

• In Limited cutaneous systemic sclerosis (CREST syndrome), skin thickening and tightness is typically limited to the fingers and toes. This form of scleroderma is also associated with the formation of calcified nodules under the skin, Raynaud’s phenomenon, problems with movement of the esophagus, and dilated blood vessels in the skin called telangiectasias. This form is also associated with pulmonary hypertension. A blood test called centromere antibodies are frequently seen in this form of scleroderma.

• In Diffuse cutaneous systemic scleroderma, skin thickening and tightness usually also extends from the hands to above the wrists. This form of scleroderma more frequently involves internal organs, such as lungs, kidneys, or the gastrointestinal tract. A number of newer antibodies are being discovered to classify this form of scleroderma, but the most common antibody is Scl-70.

The cause of scleroderma is not known. Genetic factors (different genes) appear be important in the disease. Although exposure to certain chemicals may play a role in some people having scleroderma, the vast majority of patients with scleroderma do not have a history of exposure to any suspicious toxins.  The cause of scleroderma is likely quite complicated.

Diagnosis can be tricky because symptoms may be similar to those of other diseases. There is not a blood test that can say for sure that you have scleroderma, although numerous antibodies have been associated with this condition. To make a diagnosis, a doctor will ask about the patient’s medical history, do a physical exam and possibly order lab tests and X-rays. Careful clinical evaluation is the primary method for monitoring scleroderma. X-rays and computerized tomography (CT) scans are used to look for abnormalities. Thermography can detect differences in skin temperature between the lesion and normal tissue. Ultrasound and magnetic resonance imaging (MRI) can aid soft tissue assessment. Some symptoms he or she will look for include:

• Raynaud’s phenomenon: This term refers to color changes (blue, white and red) that occur in fingers (and sometimes toes), often after exposure to cold temperatures. It occurs when blood flow to the hands and fingers is temporarily reduced. This is one of the earliest signs of the disease; more than 90 percent of patients with scleroderma have Raynaud’s. Raynaud’s can lead to finger swelling, color changes, numbness, pain, skin ulcers and gangrene on the fingers and toes. People with other diseases can also have Raynaud’s and some people with Raynaud’s do not have any other disease.
• Skin thickening, swelling and tightening: This is the problem that leads to the name “scleroderma” (“Sclera” means hard and “derma” means skin). The skin may also become glossy or unusually dark or light in places. The disease can sometimes result in changes is personal appearance, especially in the face.  When the skin becomes extremely tight, the function of the area affected can be reduced (for example, fingers).
• Enlarged red blood vessels on the hands, face and around nail beds (called “telangiectasias”)
• Calcium deposits in the skin or other areas
• High blood pressure from kidney problems
• Heartburn; this is an extremely common problem in scleroderma
• Other problems of the digestive tract such as difficulty swallowing food, bloating and constipation, or problems absorbing food leading to weight loss
• Shortness of breath
• Joint pain

While some treatments are effective in treating some aspects of this disease, there is no drug that has been clearly proven to stop, or reverse, the key symptom of skin thickening and hardening. Medications that have proven helpful in treating other autoimmune diseases, such as rheumatoid arthritis and lupus, usually don’t work for people with scleroderma. Doctors aim to curb individual symptoms and prevent further complications with a combination of drugs and self-care.  For example:

• Raynaud’s phenomenon can be treated with drugs such as calcium channel blockers or drugs called PDE-5 inhibitors ⎼ sildenafil (Viagra), tadalafil (Cialis) ⎼, which open up narrowed blood vessels and improve circulation.  To prevent further damage, it’s important to keep the whole body warm, especially fingers and toes. It’s also important to protect fingertips and other skin areas from injury, which can happen even during normal daily activities.

• Heartburn (acid reflux) can be treated with antacid drugs, especially proton-pump inhibitors (omeprazole and others). These medications ease gastro-esophageal reflux disease (known as GERD).

• Scleroderma kidney disease can be treated with blood pressure medications called “angiotensin converting enzyme inhibitors” (ACE inhibitors). These can often effectively control kidney damage if started early and use of these drugs has been a major advance for treating scleroderma.

• Muscle pain and weakness can be treated with anti-inflammatory drugs such as  intravenous immunoglobin (IVIg) and/or immunosuppressive medications.  Physical and occupational therapy may be useful to maintain joint and skin flexibility. Early referral to therapy should be considered to help prevent the loss of joint motion and function.

There are two types of lung disease that patients with scleroderma may develop. The first type is called interstitial lung disease, which causes scarring of the lung tissue. There is evidence that medications, such as cyclophosphamide and mycophenolate, are somewhat effective in treating the interstitial lung disease in scleroderma. Clinical trials are ongoing, evaluating the effectiveness of several other drugs for this problem. The second type of lung disease seen in scleroderma is pulmonary arterial hypertension (high blood pressure in the arteries in the lungs). A number of drugs have become available to treat this condition, which work by opening up the blood vessels in the lungs to improve flow. Medications used for treatment of pulmonary hypertension are usually managed by specialists in the condition, and include prostacyclin-like drugs (epoprostenol, treprostinol, iloprost), the endothelin receptor antagonists (bosentan, ambrisentan), and PDE-5 inhibitors (sildenafil, vardenafil, tadalafil).

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

Scleroderma can involve almost every organ system in the body.  Although symptoms vary greatly from patient to patient, it can dramatically impact someone’s life. Patients should consult a rheumatologist—or a team of specialists—who are experienced in dealing with this complicated disease.  Several other diseases that affect the skin are sometimes confused with scleroderma.

Living with scleroderma is quite challenging.  Everyday activities can sometimes be difficult due to physical limitations and pain.  Problems with digestion may require changes in diet; patients often have to eat several small meals rather than fewer large meals. Patients must also keep the skin well-moisturized to lessen stiffness and be careful during activities such as gardening, cooking—even opening envelopes—to avoid finger injuries.  To keep the body warm, patients should dress in layers; wear socks, boots and gloves; and avoid very cold rooms. Unfortunately, moving to a warmer climate does not necessarily lead to dramatic improvement. Exercise and/or physical therapy may ease stiffness in the joints.

Patients must also deal with the psychological setbacks that come from living with a disease that is chronic, uncommon and currently incurable. Because scleroderma can cause significant changes in appearance, a patient’s self-esteem and self-image are almost always affected.  The support of family and friends is vital in helping to maintain a good quality of life.