Learn About Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin (AAT) deficiency is a condition in which the body does not make enough of AAT, a protein that protects the lungs and liver from damage. The condition can lead to COPD and liver disease (cirrhosis).
AAT deficiency; Alpha-1 protease deficiency; COPD - alpha-1 antitrypsin deficiency; Cirrhosis - alpha-1 antitrypsin deficiency
AAT is a type of protein called a protease inhibitor. AAT is made in the liver and it works to protect the lungs and liver.
AAT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent.
Adults with severe AAT deficiency will develop emphysema, sometimes before 40 years of age. Smoking can increase the risk for emphysema and make it occur earlier.
Symptoms may include any of the following:
- Shortness of breath with and without exertion, and other symptoms of COPD
- Symptoms of liver failure
- Loss of weight without trying
- Wheezing
Treatment for AAT deficiency involves replacing the missing AAT protein. The protein is given through a vein each week or every 4 weeks. This is only slightly effective at preventing more lung damage in people without end-stage disease. This procedure is called augmentation therapy.
If you smoke, you need to quit.
Other treatments are also used for COPD and cirrhosis.
Lung transplant can be used for severe lung disease, and liver transplant can be used for severe cirrhosis.
University Of Pavia
Ilaria Ferrarotti is in Pavia, Italy. Ferrarotti is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Emphysema, Subcutaneous Emphysema, Alpha-1 Antitrypsin Deficiency, and Chronic Obstructive Pulmonary Disease.
University Hospitals Birmingham NHS Foundation Trust
Robert Stockley is in Birmingham, United Kingdom. Stockley is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Emphysema, Alpha-1 Antitrypsin Deficiency, Subcutaneous Emphysema, and Chronic Obstructive Pulmonary Disease.
European Respiratory Society
Marc Miravitlles-Martos is in Spain. Miravitlles-Martos is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Chronic Obstructive Pulmonary Disease, Alpha-1 Antitrypsin Deficiency, Subcutaneous Emphysema, and Emphysema.
Some people with this deficiency will not develop liver or lung disease. If you quit smoking, you can slow the progression of the lung disease.
COPD and cirrhosis can be life threatening.
Complications of AAT deficiency include:
- Bronchiectasis (damage of the large airways)
- Chronic obstructive pulmonary disease (COPD)
- Liver failure or cancer
Contact your provider if you develop symptoms of AAT deficiency.
Published Date : August 03, 2020
Published By : Denis Hadjiliadis, MD, MHS, Paul F. Harron, Jr. Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Han MK, Lazarus SC. COPD: clinical diagnosis and management. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine. 6th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 44.
Hatipoglu U, Stoller JK. a1 -antitrypsin deficiency. Clin Chest Med. 2016;37(3):487-504. PMID: 27514595 www.pubmed.ncbi.nlm.nih.gov/27514595/.
Winnie GB, Boas SR. a1 -antitrypsin deficiency and emphysema. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 421.