Alpha 1-antitrypsin deficiency overview: Difference between revisions
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Revision as of 19:55, 14 July 2017
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Alpha 1-antitrypsin deficiency Microchapters |
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Differentiating Alpha 1-antitrypsin deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Alpha 1-antitrypsin deficiency overview On the Web |
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American Roentgen Ray Society Images of Alpha 1-antitrypsin deficiency overview |
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Directions to Hospitals Treating Alpha 1-antitrypsin deficiency |
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Risk calculators and risk factors for Alpha 1-antitrypsin deficiency overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells.[1] There are several forms and degrees of deficiency. Severe A1A deficiency causes emphysema and/or COPD in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems.[2] It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and shortens life.