Alpha-1 Antitrypsin Deficiency (AATD)Symptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Barcelona, Spain. Mr. Miravitlles is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Chronic Obstructive Pulmonary Disease (COPD), Subcutaneous Emphysema, Alpha-1 Antitrypsin Deficiency (AATD), Emphysema, and Lung Transplant.
Brigham And Women's Hospital, Lung Center
Craig Hersh is a Pulmonary Medicine provider practicing medicine in Boston, Massachusetts. Dr. Hersh is rated as an Elite provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Emphysema, Alpha-1 Antitrypsin Deficiency (AATD), Chronic Obstructive Pulmonary Disease (COPD), and Subcutaneous Emphysema. Dr. Hersh is currently accepting new patients.
IRCCS Policlinico San Matteo
Angelo Corsico practices practicing medicine in Pavia, Italy. Mr. Corsico is rated as an Elite expert by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses 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 Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
Summary: The Alpha-1 Research Registry is a confidential database made up of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and individuals identified as Alpha-1 carriers. The Registry was established to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1.
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/.