Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a condition that is passed from parents to their children through genes. It is the most common genetic cause of liver disease in children. It may result in serious lung and/or liver disease at various ages in life. Fortunately, many children diagnosed with Alpha-1 antitrypsin deficiency never develop any of the associated diseases.

Alpha-1 antitrypsin is a protein made in the liver that helps the body. Alpha-1 antitrypsin deficiency happens when there is not enough of this protein. This can result in damage to the liver and lungs and may lead to liver disease. The most serious liver diseases are cirrhosis and liver cancer.

Symptoms

The typical symptoms of alpha-1 deficiency in infants include:

• Yellow eyes or yellow skin.
• Swelling of the abdomen.
• Poor appetite.

The typical symptoms of Alpha-1 in older children and adults include:

• Fatigue.
• Poor appetite.
• Swelling of the abdomen or legs.
• Abnormal liver tests.

Diagnosis

Alpha-1 antitrypsin deficiency is diagnosed with a blood test. A liver biopsy may be performed to check for damage to the liver.

Treatment

Currently, there is no cure for alpha-1 antitrypsin deficiency. In the Liver Disease Clinic treatment focuses on the following:

• Watching for problems early in order to provide the best treatment.
• Eating a balanced diet to provide the liver and the body with essential nutrients.
• Taking multiple vitamins including vitamins A, D, E and K.