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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alpha-1 antitrypsin deficiency


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might alpha-1 antitrypsin deficiency be treated?

Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy.[1][2] Bronchodilators and inhaled steroids can help open the airways and make breathing easier.[2]

Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test).[1] This therapy raises the level of the AAT protein in the blood and lungs.[2]

Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease.[1]

When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses.[1]

All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma).[1]

Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants.[1]

Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.[1]
Last updated: 4/8/2016

References
  1. James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan. Alpha-1 Antitrypsin Deficiency. GeneReviews. May 1, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1519/.
  2. What Is Alpha-1 Antitrypsin Deficiency?. NHLBI. October, 2011; http://www.nhlbi.nih.gov/health/health-topics/topics/aat.


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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Alpha-1 antitrypsin deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Alpha1-Proteinase Inhibitor (Human)
Trade Name
(Manufacturer Name)
Prolastin®
(Talecris Biotherapeutics)
Indication
The FDA has approved this product to be used in this manner.
For chronic replacement therapy of individuals having congenital deficiency of alpha1- proteinase inhibitor with clinically demonstrable panacinar emphysema.
More Information about this product Drug Information Portal

Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.