Alpha 1-antitrypsin deficiency overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [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.
Historical Perspective
Alpha 1-antitrypsin deficiency (A1AD) was discovered in 1963 by Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden. In 1969, Sharp et al was the first to discover the association between liver disease and development of A1AD.
Classification
There is no established system for the classification of alpha 1-antitrypsin deficiency.
Pathophysiology
Differentiating Alpha 1-antitrypsin deficiency from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
According to the Spanish Society of Pneumology and Thoracic Surgery (SEPAR), All COPD patients should be screened for AATD at least once in their lifetime.