Rare Liver Diseases

Alpha-1 Antitrypsin Deficiency and Alagille Syndrome

Rare liver diseases are not so rare if they affect you or someone you love. There has been a lot of attention on more common liver diseases recently, such as hepatitis, but there are more than 100 different types of liver disease. Many you may have never heard of. Two such conditions are Alpha-1 antitrypsin deficiency and Alagille syndrome.

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a hereditary genetic disorder that can cause liver and lung disease. It is the most common genetic cause of liver disease in children. In fact, 15% of newborn children who carry the genes will develop liver disease. Onset can also occur in late childhood and adulthood. Overall, 15% of adults with alpha-1 antitrypsin deficiency will develop liver disease, which can result in liver failure. There is also an increased incidence of liver cancer.

An estimated 1 in 2,500 people have alpha-1 antitrypsin deficiency worldwide. While the disease occurs across all ethnic groups, it is found most frequently in individuals of European ancestry. Both parents must carry the genetic trait for alpha-1 in order for it to be passed on to their offspring.

Symptoms include jaundice, fatigue, swelling of the abdomen or legs, poor appetite and abnormal liver tests.

Alpha-1 antitrypsin is a protein made in the liver, which plays an important role in preventing the breakdown of enzymes in various organs. In individuals with alpha-1, their bodies are unable to create enough of this protein.

Blood tests can detect the levels of alpha-1 antitrypsin. While there is no cure for the disease, treatment includes synthetic infusions of alpha-1 antitrypsin, which prevents the progressive deterioration of the lungs. Nutrition is also a key component to ensure that the liver and body have essential nutrients. Vitamins E, D and K are often given.

Alagille Syndrome

Alagille syndrome is also hereditary and affects infants and young children. It occurs in about one in every 70,000 births according to the National Digestive Diseases Information Clearinghouse.

Children with Alagille syndrome usually suffer a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver. This leads to a buildup of bile causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50% of affected children. In an estimated 20% of individuals with the disorder, liver cirrhosis advances to a stage where the liver fails to perform its functions and liver transplantation is needed.

Alagille syndrome closely resembles other forms of liver disease seen in infants and young children but it is distinguished by facial malformation and heart valve disease (usually pulmonary stenosis). The kidneys, blood vessels, eyes and other organs can also be affected.

Symptoms of Alagille syndrome are jaundice, itchy skin, pale and loose stools and poor growth within the first three months of life. Later, symptoms include persistent jaundice and itchy skin, as well as fatty deposits in the skin. The disease often stabilizes between ages four and ten with an improvement in symptoms.

Other features, which help establish the diagnosis, include abnormalities in the kidneys, cardiovascular system, eyes, and spine. Narrowing of the blood vessel connecting the heart to the lungs leads to heart murmurs but rarely causes problems in heart function. More than 90% of children with Alagille syndrome have an unusual abnormality of the eyes.

Treatment focuses on trying to increase the flow of bile from the liver, maintaining the child’s normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop. Because bile flow from the liver to the intestine is slowed in Alagille syndrome patients, medications designed to increase the flow of bile are frequently prescribed.

Problems with fat digestion and absorption may lead to deficiency of fat-soluble vitamins (A, D, E, and K). Deficiencies of these vitamins can be diagnosed by blood tests and can usually be corrected by large oral doses.

For more information about visit Alpha-1 antitrypsin deficiency and Alagille syndrome and call our National Helpline – 1-800-GO-LIVER (1-800-465-4837).