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. 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. 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:

1. Develops emphysema younger than 45 years old, if they are a non/minimal smoker, or if they have primarily basilar disease OR
2. Has a history of panniculitis or
3. 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.