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Alpha-1 antitrypsin deficiency

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

 

Alpha-1 antitrypsin (A1AT) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease (cirrhosis).

Causes

 

A1AT is a type of protein called a protease inhibitor. A1AT is made in the liver and it works to protect the lungs and liver.

A1AT 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 A1AT deficiency will develop emphysema, often before 40 years of age. Smoking can increase the risk of emphysema.

 

Symptoms

 

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

 

Exams and Tests

 

A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds. The following tests may also help with diagnosis:

  • A1AT blood test
  • Arterial blood gases
  • Chest x-ray
  • CT scan of the chest
  • Genetic testing
  • Lung function test

Your health care provider may suspect you of having this condition if you develop:

  • Emphysema before age 45
  • Emphysema but you have never smoked or been exposed to toxins
  • Emphysema and you have a family history of the condition
  • Cirrhosis and no other cause can be found
  • Cirrhosis and you have a family history of liver disease

 

Treatment

 

Treatment for A1AT deficiency involves replacing the missing A1AT 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 emphysema and cirrhosis.

 

Outlook (Prognosis)

 

Some people with this deficiency will not develop liver or lung disease.

Emphysema and cirrhosis can be life threatening.

 

Possible Complications

 

Complications of A1AT deficiency include:

  • Bronchiectasis (damage of the large airways)
  • Chronic obstructive pulmonary disease (COPD)
  • Liver failure or cancer

 

When to Contact a Medical Professional

 

Call your provider if you develop symptoms of A1AT deficiency.

 

 

References

Han MK, Lazarus SC. COPD: clinical diagnosis and management. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine. 6th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 44.

Hatipoglu U, Stoller JK. a1-antitrypsin deficiency. Clin Chest Med. 2016;37(3):487-504. PMID: 27514595 www.ncbi.nlm.nih.gov/pubmed/27514595.

Winnie GB, Boas SR. a1-Antitrypsin deficiency and emphysema. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 393.

 
  • Lungs

    Lungs - illustration

    The major features of the lungs include the bronchi, the bronchioles and the alveoli. The alveoli are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.

    Lungs

    illustration

  • Liver anatomy

    Liver anatomy - illustration

    The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.

    Liver anatomy

    illustration

    • Lungs

      Lungs - illustration

      The major features of the lungs include the bronchi, the bronchioles and the alveoli. The alveoli are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.

      Lungs

      illustration

    • Liver anatomy

      Liver anatomy - illustration

      The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.

      Liver anatomy

      illustration

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        Tests for Alpha-1 antitrypsin deficiency

         

         

        Review Date: 8/21/2016

        Reviewed By: Denis Hadjiliadis, MD, MHS, Paul F. Harron, Jr. Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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