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 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.
Michael O'brien is an Internal Medicine provider in Park Ridge, Illinois. Dr. O'brien and is rated as an Advanced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Emphysema, Subcutaneous Emphysema, Alpha-1 Antitrypsin Deficiency (AATD), and Chronic Obstructive Pulmonary Disease (COPD).
Respiratory Critical Care And Sleep Specialists LLC
Mukesh Ahluwalia is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Des Plaines, Illinois. Dr. Ahluwalia and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), Pneumonia, Pleural Effusion, and Advanced Bronchoscopy. Dr. Ahluwalia is currently accepting new patients.
Michael Lim is a Geriatrics specialist and a Family Medicine provider in Arlington Heights, Illinois. Dr. Lim has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Alpha-1 Antitrypsin Deficiency (AATD). His top areas of expertise are Atrial Fibrillation, Chronic Kidney Disease, End-Stage Renal Disease (ESRD), High Cholesterol, and Coronary Artery Bypass Graft (CABG). Dr. Lim 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: 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.