Alpha1-antitrypsin deficiency: forgotten etiology.
Author(s): Kaplan A, Cosentino L.
Affiliation(s): for4kids@gmail.com
Publication date & source: 2010, Can Fam Physician. , 56(1):19-24
OBJECTIVE: To provide a review of alpha1-antitrypsin deficiency (AATD),
alpha1-antitrypsin (AAT) augmentation, and the recommendations for timely
recognition and treatment.
SOURCES OF INFORMATION: Published guidelines and the medical literature about
AATD and AAT augmentation were reviewed. The information presented is based on
available published literature obtained by searching PubMed, the Cochrane Library
databases, and the reference lists of relevant articles. Searches were limited to
English-language articles published between 1990 and 2009.
MAIN MESSAGE: Alpha1-antitrypsin deficiency, a genetic disorder characterized by
low serum levels of AAT, predisposes affected patients to development of
early-onset pulmonary disease (most commonly emphysema and chronic obstructive
pulmonary disease) and occasionally even life-threatening liver disease. Despite
being one of the most common inherited conditions (affecting about 1 in 2000 to
5000 people), AATD is underrecognized. This is unfortunate; although there is no
cure for AATD, prompt diagnosis can help impede loss of lung function. Specific
treatment of this deficiency with augmentation therapy is effective.
CONCLUSION: Alpha1-antitrypsin deficiency is a common genetic condition that can
be involved in premature lung and liver disease. Consider the diagnosis to allow
earlier institution of AAT augmentation therapy to slow the progression of
premature lung disease in affected patients.
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