Does alpha-1 antitrypsin deficiency affect the liver?

Question

Hi doctor,

I was recently diagnosed with alpha-1 antitrypsin deficiency after struggling with chronic bronchitis for years. My doctor mentioned that my low AAT levels put me at higher risk for emphysema, even though I have never smoked. Is there a way to slow lung damage beyond augmentation therapy? Also, my brother, who is 48, just got tested and has the carrier form. Should he be worried about passing this on to his kids? Lastly, I have occasional right-sided abdominal pain. Could this be a sign of liver involvement?

Thanks.

Answer 1

Hello,

Welcome to icliniq.com.

I can understand your concern.

Alpha-antitrypsin deficiency (AATD) is a genetic disorder passed on in families and primarily affects the lungs and liver. Rarely, the skin may be affected as well. When this condition affects the lungs, it causes emphysema, a chronic obstructive pulmonary disease. In people with alpha-1, almost 85 percent of this protein builds up in the liver and is unable to get to the lungs and other organs. If the liver cannot break down the abnormal protein, the liver gradually gets damaged and scarred, resulting in a condition called cirrhosis. Carriers of abnormal alpha-1 genes can pass the mutation on to their children. If both parents are carriers, their children have a 25 percent chance of having two abnormal genes and a 50 percent chance of being carriers (one abnormal copy and one normal copy). When the liver is affected by AAT deficiency, symptoms may include tiredness, loss of appetite, weight loss, swelling of the feet or belly, yellowish discoloration of the skin or white part of the eyes, vomiting of blood, or blood in stools. The diagnosis of alpha-1 is made by blood tests showing low levels of alpha-1 antitrypsin and abnormal liver tests. Other tests such as ultrasound imaging or tests using specialized X-ray techniques may be necessary. A liver biopsy may be performed to check for damage to the liver. Augmentation therapy is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage.

I hope this information will help you.

Thanks.