Alpha 1-antitrypsin deficiency overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-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.
Diagnosis
- The diagnosis of alpha-1 AT deficiency should be suspected in any patient who:
- Develops emphysema younger than 45 years old, if they are a non/minimal smoker, or if they have primarily basilar disease OR
- Has a history of panniculitis or
- Has or has a family history of unexplained liver disease (especially cirrhosis or hepatoma).
In suspected individuals the initial step is to measure the serum alpha-1 AT concentration. In general, phenotyping should be reserved for patients who have low or borderline low alpha-1 AT levels. In addition, baseline PFTs-pulmonary function tests (spirometry pre and post bronchodilators, lung volumes and diffusing capacity), LFTs (liver function test), an ABG-arterial blood gases (usually) and a PA (posteroanterior) and lateral chest x-ray are recommended.