Learn About Alpha-1 Antitrypsin Deficiency (AATD)
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 chronic obstructive pulmonary disease (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 variant. 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
- Coughing
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.
Marc Miravitlles practices in Barcelona, Spain. Mr. Miravitlles is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Chronic Obstructive Pulmonary Disease (COPD), Subcutaneous Emphysema, Alpha-1 Antitrypsin Deficiency (AATD), Emphysema, and Lung Transplant.
Florida Clinical Practice Association Inc
Karina Serban is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Gainesville, Florida. Dr. Serban is rated as an Elite provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). Her top areas of expertise are Alpha-1 Antitrypsin Deficiency (AATD), Emphysema, Chronic Obstructive Pulmonary Disease (COPD), and Subcutaneous Emphysema.
IRCCS Policlinico San Matteo
Angelo Corsico practices in Pavia, Italy. Mr. Corsico is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Subcutaneous Emphysema, Alpha-1 Antitrypsin Deficiency (AATD), Emphysema, Lung Transplant, and Tissue Biopsy.
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)
- COPD
- Liver failure or cancer
Contact your provider if you develop symptoms of AAT deficiency.
Summary: This is a study of gene therapy to treat alpha-1 antitrypsin deficiency. This study aims to treat AAT deficiency with a single administration of AAV8hAAT(AVL), a gene therapy that codes for an oxidation resistant form of the AAT protein, which if safe and if efficacious, will protect the lung on a persistent basis. We hope to learn the safety/toxicity and initial evidence of efficacy of intravenou...
Summary: Brief Summary: This study aims to find out if a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD) is more common in people who have shortness of breath and signs of airway obstruction on their breathing tests. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs from damage. AATD is an inherited condition where the body does not make enough of this protein, which can lead to...
Published Date: August 19, 2024
Published By: Allen J. Blaivas, DO, Division of Pulmonary, Critical Care, and Sleep Medicine, VA New Jersey Health Care System, Clinical Assistant Professor, Rutgers New Jersey Medical School, East Orange, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Han MK, Lazarus SC. COPD: diagnosis and management. In: Broaddus VC, Ernst JD, King TE, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine. 7th ed. Philadelphia, PA: Elsevier; 2022:chap 64.
Masson VK, Boas SR. a1 -antitrypsin deficiency and emphysema. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 442.
Tejwani V, Stoller JK. The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis. 2021;12_suppl. PMID: 34408829 pubmed.ncbi.nlm.nih.gov/34408829/.