What is it?

Scleroderma is an autoimmune rheumatic disease affecting the skin and other organs of the body, meaning that the body’s immune system is acting abnormally. The main finding in scleroderma is 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. There is still no cure for scleroderma but effective treatments for some forms of the disease are available.

Scleroderma is relatively rare. About 75,000 to 100,000 people in the U.S. have this disease; 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.

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Complications of Scleroderma

Raynaud’s Phenomenon

Raynaud’s phenomenon is often the first sign of scleroderma. With this condition, small blood vessels constrict in the fingers, toes, ears, and sometimes even the nose.

Attacks of Raynaud’s phenomenon can occur several times a day, and are often brought on or worsened by exposure to cold. Warmth relieves these attacks. In severe cases, attacks can develop regardless of the temperature. Severe cases may also cause open sores or damage to the skin and bones, if the circulation is cut off for too long.

Typically, the fingers go through three color changes:

  • First, they become very pale.
  • As the blood flow is cut off, they turn a bluish color, usually in the top two sections of the second and third fingers.
  • Finally, when blood flow returns, the fingers become red.

Tingling and pain can occur in the affected regions.

Raynaud’s is very common and occurs in 3 – 5% of the general population. It’s important to note that more than 80% of patients with Raynaud’s phenomenon do not have scleroderma, lupus, rheumatoid arthritis, or other serious illnesses. Raynaud’s is more likely to be a symptom of scleroderma or some other connective tissue disease if it develops after age 30, if it is severe, and if it is accompanied by other symptoms (such as skin changes and arthritis).

Skin Changes

Course of Typical Skin Changes

The primary symptoms of scleroderma occur in the skin. They often take the following course:

  • Typically, pitted scars appear first on the hands. The skin begins to thicken and harden on the hands, feet, and face. The fingers may swell. This condition is called sclerodactylia. Patients with diffuse scleroderma may have swelling of the whole hand before the skin significantly thickens.
  • Thickened or hardened patches may also develop on other areas of the body. (Their appearance on the trunk and near the elbows or knees tends to be a sign of a more severe condition.)
  • For the first 2 or 3 years, the skin continues to thicken and feel puffy.
  • This process then stops, and can even get better. The skin may soften.
  • As the disease progresses further, however, the skin loses its ability to stretch, and becomes shiny as it tightens across the underlying bone, particularly in the fingers, toes, and around the mouth.
  • Eventually, in severe cases, the fingers may lose the ability to move, and can be difficult to bend. The hands and feet may curl from the tightness of the skin. It may be difficult to open the mouth widely.

Other Skin Changes

The following skin symptoms may also occur:

  • Flat red marks, known as telangiectasis, may appear in various locations, usually the face, palms, lips, or the inside of the mouth.
  • In calcinosis, small white lumps form beneath the skin, sometimes oozing a white substance that looks like toothpaste. Calcinosis can lead to infections.
  • Small blood vessels at the base of the fingernails may be severely narrowed in some places, and may widen in other places. This is an indication that internal organs might be involved.
  • The entire surface of the skin may get darker over time, and contain patches of abnormally pale skin.
  • Hair loss may occur.
  • About 1% of patients have Sjögren syndrome, a group of symptoms that include dry eyes and dry mucus membranes (such as those in the mouth).
  • Inside the mouth, scleroderma can also cause changes that impair gum healing.

Bone and Muscle Symptoms

Changes in bones, joints, and muscles can cause the following symptoms:

  • Mild arthritis. The condition is usually distributed equally on both sides of the body.
  • Bone loss in the fingers. The destruction is not as severe as it is in rheumatoid arthritis, although the fingers may shorten over time.
  • Trouble bending the fingers, if the disease has affected the tendons and joints.
  • Muscle weakness may occur, especially near the shoulder and hip.

Digestive Tract Symptoms and Complications

Complications in the Upper Digestive Tract.

  • Esophageal motility disorder develops when scarring in the muscles of the esophagus causes them to lose the ability to contract normally, resulting in trouble swallowing, heartburn, and gastroesophageal reflux (also known as GERD). Some experts believe that patients with severe GERD may aspirate (breathe in) tiny amounts of stomach acid, which in turn may be a major cause of lung scarring.
  • About 80% of patients also experience impaired stomach activity. A delay in stomach emptying is very common.
  • Some patients develop “watermelon stomach” (medically referred to as CAVE syndrome), in which the stomach develops red-streaked areas from widened blood vessels. This causes a slow bleeding that can lead to anemia (low red blood cell counts) over time.
  • There may be a higher risk for stomach cancer.
  • Problems with movement of the food (motility) through the intestines also develop. Patients may experience an increase in bacteria levels in their intestines as a result, and have trouble absorbing nutrients from foods through their intestines.

Complications in the Lower Digestive Tract

Complications in the lower digestive tract are uncommon. If they do occur, they can include the following:

  • Scarring can cause blockages and constipation. In rare cases, constipation can become so severe that the bowel develops holes or tears, conditions that can be life threatening.
  • Scarring can also interfere with the absorption of fats in the intestines. This can lead to an increase in the number of bacteria in the lower intestines, which can cause watery diarrhea.
  • Fecal incontinence (the inability to control bowel movements) may be more common than studies indicate, because patients are reluctant to report it.

Digestive complications can put scleroderma patients at risk for malnutrition and/or incomplete absorption of nutrients. Many patients, however, have few or even no lower gastrointestinal symptoms.

Lung Symptoms and Complications

In severe cases, the lungs may be affected, causing shortness of breath or difficulty in taking deep breaths. Shortness of breath may be a symptom of pulmonary hypertension, an uncommon but life-threatening complication of systemic scleroderma.

Lung problems are usually the most serious complications of systemic scleroderma. They are now the leading cause of death in scleroderma patients. Two major lung conditions associated with scleroderma, pulmonary fibrosis and pulmonary hypertension, can occur either together or independently.

Interstitial Pulmonary Fibrosis. Scleroderma involving the lung causes scarring (pulmonary fibrosis). Pulmonary fibrosis occurs in about 20% of scleroderma patients with limited skin disease and 80% of scleroderma patients with  more severe disease (diffuse cutaneous), although its progression is very slow and patients have a wide range of symptoms:

  • Some patients may not have any symptoms.
  • When pulmonary fibrosis progresses, patients develop a dry cough, shortness of breath, and reduced ability to exercise.
  • Severe pulmonary fibrosis occurs in about 16% of patients with diffuse scleroderma. About half of these patients experience the most profound changes within the first 3 years of diagnosis. In such cases, lung function worsens rapidly over that period, and then the progression slows down.

Pulmonary fibrosis also places the patient at higher risk for lung cancer. This condition may be due to severe dysfunction in the esophagus, which causes patients to aspirate tiny amounts of stomach acid.

The most important indication of future worsening in the lungs appears to be inflammation in the small airways (alveolitis). Doctors detect alveolitis by using a lung test called bronchoalveolar lavage.

Pulmonary hypertension is the narrowing of the pulmonary arteries in the lung. The narrowing of the arteries creates resistance and increases the workload of the heart. The heart becomes enlarged from pumping blood against the resistance. Some symptoms include chest pain, weakness, shortness of breath, and fatigue. The goal of treatment is to control the symptoms, although the disease usually develops into heart failure.

Pulmonary Hypertension. Pulmonary hypertension is the narrowing of the pulmonary arteries in the lung. The narrowing of the arteries creates resistance to blood flow and increases the workload of the heart. The heart becomes enlarged from pumping blood against this resistance. Some symptoms of pulmonary hypertension include shortness of breath, chest pain, weakness, and fatigue. Shortness of breath, the primary symptom of pulmonary hypertension, worsens over time. The goal of treatment is to control the symptoms, although the disease eventually produces heart failure, usually after about 10 years.

Pulmonary hypertension can develop in one of two ways:

  • As a complication of pulmonary fibrosis
  • As a direct outcome of the scleroderma process itself. In this case, it is most likely to develop in patients with limited scleroderma after many years.

Kidney Symptoms and Complications

Signs of kidney problems, such as increased amounts of protein in the urine and high blood pressure (hypertension), are common in scleroderma (but somewhat less common in children). As with pulmonary hypertension, the degree of severity depends on whether the kidney problems are acute or chronic.

Slow Progression. The typical course of kidney involvement in scleroderma is a slow progression that may produce some damage but does not usually lead to kidney failure.

Renal Crisis. The most serious kidney complication in scleroderma is renal crisis. It is a rare event that occurs in a small number of patients with diffuse scleroderma, most often early in the course of the disease. This syndrome includes a life-threatening condition called malignant hypertension, a sudden increase in blood pressure that can cause rapid kidney failure. This condition may be fatal. However, if the condition is successfully treated, it rarely recurs.

Until recently, renal crisis was the most common cause of death in scleroderma. Aggressive treatment with drugs that lower blood pressure, particularly those known as ACE inhibitors, is proving to be successful in reducing this risk.

Heart Symptoms and Complications

Many patients with even limited scleroderma have some sort of functional heart problem, although severe complications are uncommon and occur in only about 15% of patients with diffuse scleroderma. As with other serious organ complications, they are more likely to occur within 3 years after the disease begins. Research has shown that patients with systemic scleroderma have a higher risk of atherosclerosis than healthy individuals.

Fibrosis of the Heart. The most direct effect of scleroderma on the heart is fibrosis (scarring). It may be very mild, or it can cause pain, low blood pressure, or other complications. By damaging muscle tissue, the scarring increases the risk for heart rhythm problems, problems in electrical conduction, and heart failure. The membrane around the heart can become inflamed, causing a condition called pericarditis.

Pulmonary hypertension and hypertension associated with kidney problems in scleroderma can also affect the heart.

Other Symptoms and Complications

Other complications of scleroderma may include the following:

  • Patients with CREST may be at increased risk for biliary cirrhosis, an inflammatory autoimmune disorder of the liver.
  • Nerve damage may occur in the extremities (legs, feet, arms, fingers, and toes), causing numbness and pain. This damage can progressively worsen and lead to severe open sores (ulcerations), particularly in the hands. The feet are less often affected, but when they are, the disease tends to affect the joints and cause pain.
  • Bone loss (osteoporosis) can occur because of impaired blood flow.
  • About 10-15% of scleroderma patients develop underactive thyroid gland (hypothyroidism). 

What Causes it?

Although the underlying cause is unknown, promising research is shedding light on the relationship between the immune system and scleroderma. A great deal of research is also underway to find better treatments for scleroderma and, hopefully, someday a cure.

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How is it diagnosed?

Diagnosis can be tricky because symptoms may be similar to those of other diseases. There is no one blood test or X-ray that can say for sure that you have scleroderma. 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 at bone 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

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How is it 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. 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 glucocorticoids (prednisone), 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 (scarring).  There is evidence that cyclophosphamide is somewhat effective in treating the interstitial lung disease in scleroderma.  Clinical trials are underway assessing 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).

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.

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