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Alpha 1-antitryosin deficiency.

Alpha 1-Antitrypsin Deficiency is an hereditary disease occasionally leading to hepatitis and cirrhosis. In some adults, emphysema is part of the disease. This is not true in pediatric patients.

To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1:1000 live births. For each pregnancy in such a family, there is a 1 in 4 chance a baby will be born with the deficiency, but for some reason, not understood, only 10 - 20 % of the babies born with the deficiency will have liver disease. The carrier state can be detected. Decreased levels of the serum protein, alpha 1-antitrypsin, lead to liver damage, scarring and abnormal function.

Most often the disease appears in the newborn period with jaundice, swelling of the abdomen, and poor feeding. Sometimes, it appears in childhood or adolescence with fatigue, poor appetite, swelling of the abdomen and legs, or enlargement of the liver.

Blood tests make the diagnosis. The serum level of alpha 1-antitrypsin is low, liver function tests are abnormal, and the blood count may show abnormalities resulting from changes in blood flow through the liver. Often, other tests such as urine collection, ultrasound examination, or tests using specialized x-ray techniques are also necessary. A biopsy of the liver (sampling liver tissue with a needle or by operation) is usually performed to look for liver injury.

Currently, there is no cure for this disease. However, certain abnormalities can be treated or controlled. Treatment is designed to maintain normal nutrition, to provide the liver and the body with essential nutrients, and to identify complications early in order to treat them better. Multiple vitamins, vitamin B complex, and vitamins E, D and K are often given. When jaundice is severe, or itching appears, phenobarbital and cholestyramine may be used. Excess body fluid may occur if the disease progresses. This is treated with diuretics and potassium supplement.

Patients who develop cirrhosis (scarring of the liver) have changes in blood flow through the liver which produce other complications: nosebleeds, bruising, excess body fluid, enlarged veins in the inside of the stomach and esophagus (varices). Occasionally, increases in pressure in these veins make them leak, and internal bleeding results. This can usually be stopped. An operation called a shunt may need to be performed (to lower the pressure). Increased sleepiness after eating protein (due to increased blood ammonia levels) and increased risk of infection may be late complications.

A long-term outcome of the disease is variable. Approximately 25% of the affected patients develop cirrhosis and its complications but 75% will not have any significant liver disease after the newborn period. Some deficient patients with cirrhosis lead relatively normal lives for relatively lond periods of time. The reason for this difference is not known. Liver transplants have been done on a number of patients with alpha 1-antitrypsin with success. There is a great deal of research interest in this disease and optimism that this research will lead to more effective treatments in the near future.
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Publication:Pamphlet by: American Liver Foundation
Article Type:pamphlet
Date:Nov 28, 1989
Previous Article:Primary biliary cirrhosis.
Next Article:Reye's syndrome.

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