Alpha-1 Antitrypsin Deficiency

Also known as: AATD, A1AT, alpha-1.

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin is a protein produced by the liver. It plays a role in protecting the lungs. When the body doesn’t make enough of it, or it can’t travel properly from the liver to the lungs, the disease is known as alpha-1 antitrypsin deficiency. It can cause both liver and lung problems.

What causes alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is an inherited disorder. A person with alpha-1 antitrypsin deficiency inherits one disease-causing trait from each parent. Parents and persons with but one genetic trait for the condition (called “carriers” of alpha-1 antitrypsin deficiency) usually have no or very minimal symptoms.

What are the symptoms of alpha-1 antitrypsin deficiency?
Lung symptoms related to alpha-1 antitrypsin deficiency typically develops after the second or third decade of life.   They include cough, phlegm production, wheezing, shortness of breath, fatigue and repeated respiratory infections. Liver problems such as jaundice, liver damage or liver failure are rare but can occur in some with the disease.

What are alpha-1 antitrypsin deficiency care options?
There is no cure for alpha-1 antitrypsin deficiency. Avoidance of cigarette smoking and exposure to passive cigarette smoke are of vital importance in managing alpha-1 antitrypsin deficiency. Treatment is focused on the complications that arise from the disorder. This can include medicines, oxygen therapy and pulmonary rehabilitation to address the disease’s impact on the lungs. A lung transplant or combined lung/liver transplant may be a possibility in severe cases.  Newer therapies using medications that help increase breakdown of abnormal alpha-1 antitrypsin within liver cells are now being developed; these treatments may help to slow the development of fibrosis in the liver.

Reviewed by: John M. Peters, DO

This page was last updated on: 2/5/2018 3:41:41 PM

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Dr. Koyfman is employed by Pediatric Specialists of America (PSA), the physician-led group practice of Nicklaus Children's Health System, and sees patients at Nicklaus Children's Hospital in Miami and the Nicklaus Children's West Kendall Outpatient Center.