Scleroderma

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Scleroderma

Scleroderma (SSc) is a disease affecting the skin and other organs of the body. The main finding in scleroderma is the thickening and tightening of the skin and inflammation and scarring of many body parts leading to problems in the lungs, kidneys, heart, intestinal system, and other areas of the body.

What is Scleroderma?

Scleroderma (also known as systemic sclerosis) 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 other 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, which is the most serious form of the disease, affects the skin, muscles, joints, blood vessels, lungs, kidneys, heart, and other organs.

What causes Scleroderma?

The cause of scleroderma is not known. Genetic factors (different genes) appear to be important in the disease. The cause of scleroderma is multifactorial.  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.

Who gets Scleroderma?

Scleroderma is relatively rare; most are women between the ages of 30 and 50. Twins and family members of those with scleroderma or other autoimmune connective tissue diseases, such as lupus, may have a slightly higher risk of getting scleroderma. Children can also develop scleroderma, but the disease is different in children than in adults.

How is Scleroderma diagnosed?

Diagnosis can be tricky because symptoms may be similar to those of other diseases. There is no single blood test or other investigation that can diagnose scleroderma. To make a diagnosis, the doctor will ask about the patient's medical history, do a physical exam and possibly order lab tests and X-rays. 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 in 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 lead to weight loss.
• Shortness of breath and dry cough.
• Joint pain.

How is Scleroderma treated?

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. 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 or tadalafil - 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 by preventing exposure to a cold environment (use warm full sleeve clothing, mitten, and socks), use warm water for bathing, washing, etc., and avoiding very cold drinks and food (desserts). 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 gastroesophageal 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 the use of these drugs has been a major advance in treating scleroderma.

Muscle pain and weakness can be treated with anti-inflammatory drugs such as glucocorticoids (prednisone), intravenous immunoglobin (IVIg), and/or immunosuppressive medications. Physical therapy may be useful to maintain joint and skin flexibility.

Lung damage: There are two types of lung disease that patients with scleroderma may develop. The first type is called interstitial lung disease (lung scarring). There is evidence that cyclophosphamide is somewhat effective in treating interstitial lung disease in scleroderma. Clinical trials are underway to assess 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). In the last 10 years, a number of drugs have become available to treat this condition, including prostacyclin-like drugs (Epoprostenol, Treprostinol, Iloprost), the endothelin receptor antagonists (Bosentan, Ambrisentan), and PDE-5 inhibitors (Sildenafil, Vardenafil, Tadalafil).

Broader health impact of Scleroderma

Scleroderma can involve almost every organ system in the body. Although symptoms vary greatly from patient to patient, they can dramatically impact someone's life with reduced functional and psychosocial aspects.

Living 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 environments. 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.