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

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
The Lungs

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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
  • Coughing up phlegm
  • Wheezing

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/or 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

You will be asked 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 an measure AAT levels in the blood
  • 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 September 21, 2020.

Alpha-1 antitrypsin deficiency. National Jewish Health website. Available at: http://www.nationaljewish.org/healthinfo/conditions/alpha-1. Accessed September 21, 2020.

Alpha-1 antitrypsin deficiency. The Merck Manual Professional Edition website. Available at: http://www.merckmanuals.com/professional/pulmonary_disorders/chronic_obstructive_pulmonary_disease_and_related_disorders/alpha-1_antitrypsin_deficiency.html. Accessed September 21, 2020.

Alpha-1 anti-trypsin deficiency (AAT). EBSCO DynaMed website. Available at:https://www.dynamed.com/condition/alpha-1-antitrypsin-aat-deficiency. Accessed September 21, 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 March 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 9/21/2020