Alpha 1 Anti-Trypsin Deficiency

(AAT Deficiency; Alpha-1 Antiprotease Deficiency)

How to Say It: Al-fa-wun An-tee-TRIP-sin Dee-FISH-en-see

by Cynthia M. Johnson, MA

Definition

Alpha 1 anti-trypsin (AAT) deficiency is a rare genetic problem. It causes low levels of the protein AAT or stops it from working well. This can lead to lung and liver disease in children and adults.

The Lungs

Causes

AAT is made in the liver. A damaged gene stops the liver from making useful AAT. The faulty gene is passed from parents to children.

Risk Factors

This problem is more common in people of Northern European and Iberian ancestry. It is also more common in people who have a parent who carries the faulty gene. The risk is higher in a person with both parents who carry the gene.

Symptoms

Problems may start at any age, but they often appear in people who are 20 to 50 years of age. They may be:

Feeling tired
Problems breathing, such as during mild activity
Wheezing
Coughing up phlegm

AAT that builds up in the liver may cause:

Tiredness
Lack of hunger
Weight loss
Swelling in the legs or belly
Yellowing of the skin and whites of the eyes
Vomiting blood
Blood in stools

Rarely, a person may also have skin problems, such as hardened patches or red, painful lumps.

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. This may be enough to suspect the diagnosis. You may be referred to a doctor who treats the lungs or liver.

AAT is diagnosed through these tests:

Blood tests to measure AAT levels
Genetic testing to find genetic change that causes AAT deficiency

Treatment

The goal of treatment is to manage symptoms. Options to manage lung problems are:

Augmentation therapy to deliver AAT to boost levels
Inhaled bronchodilators and steroids to help open the airways and ease breathing
Oxygen therapy to boost levels of oxygen in the body
Flu and pneumococcal vaccines to lower the risk of lung infections
Surgery to remove damaged areas of the lung
A lung transplant

People with AAT deficiency should not smoke. They should also avoid being around others who smoke. It can make problems worse.

There are no methods to manage liver problems. Rarely, people with severe liver problems may need a liver transplant.

Prevention

There are no known guidelines to prevent AAT deficiency.

RESOURCES:

Alpha-1 Association
http://www.alpha1.org

American Lung Association
http://www.lung.org

CANADIAN RESOURCES:

Canadian Liver Foundation
http://www.liver.ca

The Lung Association
http://www.lung.ca

References:

Alpha-1 antitrypsin deficiency. National Heart, Lung, and Blood Institute website. Available at: https://www.nhlbi.nih.gov/health-topics/alpha-1-antitrypsin-deficiency. Accessed November 2, 2020.

Alpha-1 antitrypsin deficiency. National Jewish Health website. Available at:
...(Click grey area to select URL)
Accessed November 2, 2020.

Alpha-1 antitrypsin deficiency. The Merck Manual Professional Edition website. Available at:
...(Click grey area to select URL)
Accessed November 2, 2020.

Alpha-1 anti-trypsin deficiency (AAT). EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/alpha-1-antitrypsin-aat-deficiency. Accessed November 2, 2020.

Sandhaus RA, Turino G, et al. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668-682.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD
Last Updated: 5/5/2021

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