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Alpha-1 antitrypsin deficiency - Symptom

Alternative Names

AAT deficiency

Symptoms:

Signs and tests:

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

Your doctor may suspected you having this condition if you develop:

  • Emphysema before age 45
  • Emphysema but have never smoked or been exposed to toxins
  • Liver disease or hepatitis and no other cause can be found
  • Reviewed last on: 8/29/2008
  • Sean O. Stitham, MD, private practice in Internal Medicine, Seattle, WA; Benjamin Medoff, MD, Assistant Professor of Medicine, Harvard Medical School, Pulmonary and Critical Care Unit, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Köhnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. JAMA. 2008;121(1):3-9.

Stoller JK, Tomashefski J, Crystal RG, et al. Mortality in individuals with severe deficiency of alpha-1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry. Chest. April 2005;127:1196-1204.

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