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 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
- 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.
Billings Clinic
Heidi Duncan is a Family Medicine provider in Billings, Montana. Dr. Duncan and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). Her top areas of expertise are Hypothyroidism, Obesity in Children, High Cholesterol, and Melorheostosis. Dr. Duncan is currently accepting new patients.
Billings Clinic
Robert Merchant is a Pulmonary Medicine specialist and a Sleep Medicine provider in Billings, Montana. Dr. Merchant and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Sarcoidosis, Obstructive Sleep Apnea, Drowsiness, and Excessive Daytime Sleepiness. Dr. Merchant is currently accepting new patients.
Billings Clinic
Eric Saberhagen is an Internal Medicine provider in Billings, Montana. Dr. Saberhagen and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Obesity in Children, Type 2 Diabetes (T2D), Lung Metastases, and Hypothyroidism. Dr. Saberhagen is currently accepting new patients.
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 1/2, multicenter, open-label, dose-exploration (Phase 1) and dose-expansion (Phase 2) study to evaluate the safety, tolerability, PK/PD, and efficacy of BEAM-302 in adult patients with AATD-associated lung disease and/or liver disease and to determine the optimal biological dose (OBD).
Summary: The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH. Primary outcome measures include incidence of any adverse events (including serious adverse events, dose limit toxicities, and adverse events of special interest), incidence of any laboratory test abnormalities, incidence of lung function test abnormalit...
Published Date: July 31, 2022
Published By: Denis Hadjiliadis, MD, MHS, Paul F. Harron, Jr. Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 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.
Hatipoglu U, Stoller JK. a1 -antitrypsin deficiency. Clin Chest Med. 2016;37(3):487-504. PMID: 27514595 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.