Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin (A1AT) Deficiency is an inherited disorder in which the body does not make enough of a protein that protects the lungs and liver from damage and may cause lung and liver disease. A1AT’s function is to block other proteins that help in inflammation and in breaking down tissues in the body. When the liver does not release enough A1AT, your body may experience more severe inflammation and tissue damage than it normally would – particularly in the lungs. The A1AT that stays in the liver is unable to function normally and it negatively effects the liver by causing inflammation (hepatitis) that can lead to cirrhosis (permanent liver scarring) and liver failure.

About 1 in 600 people are affected. About 10 percent of infants with alpha-1-antitrypsin develop liver disease which often causes yellowing of the skin and whites of the eyes (jaundice). About 15 percent of adults develop liver damaged called cirrhosis due to the formation of scar tissue in the liver.

Causes

This disease is genetic. If both of your parents carry this genetic defect you may be likely to develop this disease. Frequently, parents do not experience symptoms of the disease and therefore do not know that they are carriers until their child is diagnosed.

Symptoms/Diagnosis

For newborns, jaundice (yellowing of the eyes and skin) may occur from the inflammation of the liver due to A1AT deficiency. Approximately 10% of all newborns diagnosed with liver disease are diagnosed with A1AT deficiency. Older children and teenagers may see their doctor for a liver that has been inflamed for a long time. In this case, scarring (cirrhosis) of the liver frequently occurs.

Lung disease is usually experienced by adults with this disease versus younger patients. Adults may also have related illnesses including COPD (chronic obstructive pulmonary disease), emphysema, chronic bronchitis, asthma, coughing, and repeated lung infections. Testing is usually done if there is no other explanation for the liver inflammation, or if there is a family history of the disease. Diagnosis usually involves a blood test to determine the level of A1AT in the blood stream. Sometimes it may be necessary for the doctor to also do a test on your DNA by a blood draw. If you have the disease, the doctor may do an ultrasound of your liver, additional blood tests, or may even take a small piece of tissue that the doctor can look at under a microscope call a liver biopsy to find out how the liver has been affected.

Treatment

There is no cure for this disease. However, you doctor will tell you ways to help manage the disease and prevent any other problems from the disease. It is very important for you and for everyone around you not to smoke in order to protect you lungs. You should also receive vaccines for diseases that affect the liver, such as Hepatitis A and Hepatitis B.