Navigate Up

Cancer Center - A-Z Index

#
Q
Y

Print This Page

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) 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 .

Alternative Names

AAT deficiency; Alpha-1 protease deficiency

Causes, incidence, and risk factors

Alpha-1 antitrypsin (AAT) is a type of protein called a "protease inhibitor." It 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.

Studies show that AAT deficiency may be more common than was once thought.

Adults with severe deficiency will develop emphysema , often before age 40. Smoking can increase the risk of emphysema. Other patients can have higher levels of AAT in their blood, and therefore have a less severe condition.

Persons with this deficiency may also develop liver disease.

Symptoms

Signs and tests

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

Your doctor may suspect you of having this condition if you develop:

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

Treatment

Treatment for AAT deficiency involves replacing the missing AAT protein. The protein is given through a vein each week. However, it is not yet well known who may benefit from such therapy.

If you smoke, you need to quit.

Other treatments for emphysema and cirrhosis are also used.

Expectations (prognosis)

Some people with this deficiency will not develop liver or lung disease. However, emphysema and cirrhosis can be life threatening.

Complications

Calling your health care provider

Call your health care provider if you develop symptoms of AAT deficiency.

References

Bacon BR. Inherited and metabolic hepatic disorders. In:Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 93.

Niewoehner DE. Chronic obstructive pulmonary disease. In:Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 88.

Shapiro SD, Reilly JJ Jr, Rennard SI. Chronic bronchitis and emphysema. In: Mason RJ, Broaddus CV, Martin TR, et al. Murray & Nadel's Textbook of Respiratory Medicine. 5th ed. Philadelphia, Pa: Saunders Elsevier; 2010:chap 39.

Silverman EK, Sandhaus RA. Alpha-1 antitrypsin deficiency. N Engl J Med 2009;360:2749-2757.

Updated: 8/30/2012

David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Denis Hadjiliadis, MD, Assistant Professor of Medicine, Division of Pulmonary, Allergy and Critical Care, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com