Systemic Forms Of Scleroderma Progressive Systemic Sclerosis

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The form of scleroderma called progressive systemic sclerosis (PSS), also referred to as diffuse scleroderma, is the most severe form of the disease, with the subtle onset of skin tightening and in many cases shortness of breath. Children and families may be unaware of the disease until it has become well advanced. Because the onset of disease is slow and gradual, families often are unaware of the problem until a dramatic event occurs: a cold and numb finger, the inability to play favorite sports when the season starts, or the inability to open jars or perform other minor chores that the child used to do easily. These children have poor wound healing and may be brought to the physician because of painful sores that do not heal appropriately.

The most common early symptom of PSS is Raynaud's phenomenon. However, it is important to be aware that most people who have Raynaud's phenomenon do not develop rheumatic disease (see Chapter 12). Other common early symptoms of PSS are gradually increasing tightness of the skin and progressive stiffening of the fingers. Typically, these children are ultimately brought to the physician because of shortness of breath, difficulty swallowing, or weight loss.

Diagnosis. An experienced physician easily diagnoses PSS when the skin involvement is prominent. The tight, shiny skin is often accompanied by sores over the knuckles (Gottren's papules), abnormalities in the nail fold capillaries, and distal fingertip lesions (see Chapter 12). This combination of findings is diagnostic of PSS. Less often children come to the doctor because the esophagus is involved and they have difficulty swallowing foods in large chunks or foods that have sharp edges, such as potato chips.

Some children with scleroderma are first seen by their physicians because of chest pain. The distal esophagus is frequently involved in scleroderma, and the valve (sphincter) that keeps stomach acid out of the esophagus often fails to work properly. As a result, the chest pains are due to irritation of the esophagus by acid reflux. Occasionally, children present with chronic diarrhea and weight loss because the intestinal tract is affected by the scleroderma. In all of these cases, the key to the diagnosis is consideration of the possibility of scleroderma by a knowledgeable physician.

Other diseases may be associated with Raynaud's phenomenon or shortness of breath, but the combination of chronic or recurrent shortness of breath and Raynaud's is highly suggestive of PSS or CREST syndrome (see below). MCTD, dermatomyositis, systemic lupus erythematosus, and less frequently other rheumatic diseases may also have both symptoms. Typical cases of MCTD, PSS, and CREST syndrome can be easily differentiated, but there is a broad spectrum of overlap among these diseases. Over time, some children with obvious MCTD progress to having PSS.

The diagnosis of PSS is based on the characteristic findings on examination of the skin. In some cases, it is necessary to biopsy the skin for confirmation, but because the skin of children with scleroderma often heals poorly and the biopsy may produce a scar, it may be best to avoid this where possible.

There are several patterns of laboratory abnormality in children with scleroderma. No single test is abnormal in every child. Frequently, the routine tests (CBC, ESR, chemistry panel) are essentially normal. An increased number of eosinophils may be noted in the blood count. Very high levels of eosinophils may suggest eosinophilic fasciitis (see below). Positive tests for ANA or RF are common but not necessary for the diagnosis. Muscle enzymes (CK, aldolase) may be elevated. Antibodies to Scl-70 (antitopoisomerase antibodies) are less common in children with scleroderma than in adults but may occur. Anti-DNA antibodies are occasionally reported in low titer, but serum complement levels (C3, C4) should be normal.

With the exception of the finding of anti-Scl-70, it may be impossible to differentiate MCTD and PSS on a laboratory basis. Because some children with MCTD ultimately are diagnosed as having evolved into PSS, this may be a false distinction (see Chapter 10). CREST syndrome should be considered carefully in children with telangiectasias or high titers of anticentromere antibody (see section below).

Complications. The most severe complications associated with scleroderma result from involvement of the internal organs. Lung involvement that leads to progressive shortness of breath may be quite severe. Children with PSS should undergo periodic monitoring of their pulmonary function tests (PFTs; see Chapter 22). High-resolution CT scans of the chest are helpful if a child has abnormal PFTs and may be done in children with normal PFTs if there is clinical suspicion of lung disease. Areas of fibrosis indicate significant lung involvement. Over time, this involvement may lead to thickening and loss of elasticity in the lung tissue, much like what happens in the skin. These changes make it harder to move air in and out of the lungs and more difficult for oxygen to move into the blood.

Children with significant lung involvement should be aggressively treated. Over time, the difficulty of moving air in and out of the lungs places additional strain on the heart, which can result in enlargement of the right ventricle, leakage of the pulmonary valve, and increased pulmonary artery pressure. Untreated, severe lung involvement often leads to heart failure, pneumonia, or both.

Some children develop involvement of the heart muscle, known as myocardial fibrosis, which causes the heart to become stiff. It is as if extra fibrous tissue is forming in the heart, just as it does in the skin. When this happens, the heart cannot contract as easily as before. This can be detected by an echocardiogram. It is a very difficult problem to treat. I try to avoid medications such as digitalis that increase the strength of the heart's contractions, because these may cause abnormalities of the heart rhythm. Children with significant cardiac compromise from scleroderma will need an experienced cardiologist to help in their care.

The outer covering of the heart (the pericardium) may also be involved in scleroderma. Most often this takes the form of thickening and irritation (pericarditis), sometimes with a buildup of fluid. If too much fluid is present, it becomes difficult for the heart to pump properly. This can be treated with medications, but if it is very severe, the fluid may need to be drained (pericardiocentesis).

Although children rarely have heart attacks, the coronary arteries may become involved in children with scleroderma. Gradual thickening of the coronary arteries is unlikely to cause problems until the children have become adults. However, some children develop overreactive blood vessels in the heart that constrict when they experience Raynaud's changes in their hands. This should be aggressively treated, as it may result in a heart attack.

Involvement of the kidneys is another major concern for children with PSS. If the blood vessels supplying the kidneys become thickened and narrowed, affecting the pressure in the blood vessels, the kidneys respond by releasing a compound called rennin, which causes the blood pressure to increase throughout the body. In children with scleroderma, the increased blood pressure leads to strain on the heart and other organs. Rarely, children develop an acute rise in blood pressure called scleroderma renal crisis. This is a life-threatening condition. Fortunately, a new class of agents for blood pressure control, the ACE inhibitors, is very effective in treating this problem.

Children with scleroderma frequently have involvement of the gastrointestinal system. Tightness of the skin around the mouth can make it difficult to open the mouth wide enough to eat normally. The thickening of the esophagus may make it difficult to swallow certain foods. In addition, it is common for the valve at the bottom of the esophagus (esophageal sphincter) to lose its ability to close tightly. This results in acid washing up from the stomach (gastroesophageal reflux), causing severe irritation and often resulting in severe chest pain.

Eventually, the gastroesophageal reflux may cause scarring of the esophagus, making it more difficult for food to pass through. Often the pain and discomfort caused by this combination of problems make the child not want to eat, and he or she will begin to lose weight.

When scleroderma involves the intestines, the thickening of the tissues makes it difficult for the intestines to move food forward in the normal fashion. The result is poor absorption of nutrients and chronic bloating. Some patients have problems with constipation, others have problems with diarrhea, and some have both. These digestive problems frequently worsen the child's weight loss.

Liver involvement in children with scleroderma is rare. Some cases of primary biliary cirrhosis (an uncommon form of liver disease) have been reported.

Treatment. Proper treatment of childhood scleroderma remains controversial. However, it is generally agreed that treatment with D-penicillamine (which used to be the standard therapy) is ineffective. There is no clear agreement on the best treatment for mild cases. Some feel short courses of prednisone are helpful. I personally avoid them if possible.

The key to obtaining the best outcome for children with scleroderma is to prevent severe internal organ involvement. Most physicians will treat children with systemic scleroderma with mild agents such as hydroxychloroquine unless there is severe internal organ involvement. If that is present, they will treat the children with intravenous cyclophosphamide. My own preference is to treat every child with definite PSS with injections of methotrexate (1 mg/kg per week) and oral cyclosporine.

A variety of medications have been tried in adults with scleroderma. The use of TNF inhibitors and agents that block B cell activity (such as rituximab) is being considered. See Chapter 20 for a fuller discussion of these medications.

An assortment of medications is used to address specific problems. As noted, ACE inhibitors are used to treat increased blood pressure. Calcium-channel blockers are used to treat Raynaud's phenomenon. Any of several medicines that block acid secretion can be used to minimize damage to the esophagus. In addition, prostaglandins such as inhaled iloprost have been used to treat pulmonary fibrosis and the resultant increase in stiffness of the blood vessels in the lungs. There is no single best therapy, but it is important for parents to make sure that their children are being followed by physicians who are familiar with the most current recommendations. Children with significant PSS should be cared for at major medical centers with experienced rheumatologists, pulmonologists, cardiologists, nephrologists, and specialists in intensive care—preferably with extensive pediatric experience. The primary goal must be to prevent progression of the disease.

Prognosis. The prognosis for children with PSS is guarded. In the absence of significant internal organ involvement, children may live for decades. Some children with only skin involvement may find that their skin eventually softens and will do well. Children with significant heart, lung, kidney, or gastrointestinal involvement did poorly in the past. However, with more aggressive therapy the outlook is improving. There is reason to believe that continued aggressive treatment will allow children with PSS to lead reasonably normal lives.

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