Learn About Alpha-1 Antitrypsin Deficiency (AATD)

What is the definition of 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).

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What are the alternative names for Alpha-1 Antitrypsin Deficiency (AATD)?

AAT deficiency; Alpha-1 protease deficiency; COPD - alpha-1 antitrypsin deficiency; Cirrhosis - alpha-1 antitrypsin deficiency

What are the causes of Alpha-1 Antitrypsin Deficiency (AATD)?

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.

What are the symptoms of Alpha-1 Antitrypsin Deficiency (AATD)?

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
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What are the current treatments for Alpha-1 Antitrypsin Deficiency (AATD)?

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.

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What is the outlook (prognosis) for Alpha-1 Antitrypsin Deficiency (AATD)?

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.

What are the possible complications of Alpha-1 Antitrypsin Deficiency (AATD)?

Complications of AAT deficiency include:

  • Bronchiectasis (damage of the large airways)
  • COPD
  • Liver failure or cancer
When should I contact a medical professional for Alpha-1 Antitrypsin Deficiency (AATD)?

Contact your provider if you develop symptoms of AAT deficiency.

Liver anatomy
What are the latest Alpha-1 Antitrypsin Deficiency (AATD) Clinical Trials?
Alpha-1 Research Registry Protocol

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.

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A Phase 2, Randomized, Double-blind, Placebo-Controlled Study Investigating Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Two Dose Levels of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease

Summary: This is a multiple dose, randomized, placebo-controlled, double-blind study of belcesiran to evaluate the safety, tolerability, PK, and PD in adult patients with PiZZ AATD-associated liver disease (AATLD). The study will be conducted in 3 separate cohorts. A total of up to 16 participants may be enrolled in Cohort 1 and 2. A total number of 30 subjects will be enrolled in cohort 3. The 3 cohorts a...

What are the Latest Advances for Alpha-1 Antitrypsin Deficiency (AATD)?
Fazirsiran for Liver Disease Associated with Alpha1-Antitrypsin Deficiency.
A randomized, double-blind, placebo-controlled trial of intravenous alpha-1 antitrypsin for ARDS secondary to COVID-19.
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Alpha 1 Antitrypsin Therapy in Patients with Alpha 1 Antitrypsin Deficiency: Perspectives from a Registry Study and Practical Considerations for Self-Administration During the COVID-19 Pandemic.
Who are the sources who wrote this article ?

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.

What are the references for this article ?

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.