Alpha-1 Antitrypsin Deficiency (AATD) Overview
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.
University Of Virginia Physicians Group
Timothy Scialla is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Fishersville, Virginia. Dr. Scialla and is rated as an Advanced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Pulmonary Actinomycosis, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Actinomycosis. Dr. Scialla is currently accepting new patients.
George Damewood is a Family Medicine provider in Stuarts Draft, Virginia. Dr. Damewood and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Parainfluenza, Parainfluenza Virus Type 3, Alpha-1 Antitrypsin Deficiency (AATD), and Chronic Cough. Dr. Damewood is currently accepting new patients.
University Of Virginia Physicians Group
Dana Albon is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Charlottesville, Virginia. Dr. Albon and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). Her top areas of expertise are Cystic Fibrosis, Bronchiectasis, Lung Metastases, Nontuberculous Mycobacterial Lung Disease, and Lung Transplant. Dr. Albon 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: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Summary: The goal of this clinical trial is to learn if AAT for inhalation, at a dose of 80 mg/day can slow the progression of lung disease in people who have lung disease caused by severe genetic deficiency in Alpha 1 Antitrypsin (AATD). The main question it aims to answer is: • Can daily treatment with Kamada AAT for inhalation at a dose of 80 mg/day prevent or slow lung function worsening ? Lung functio...
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/.