Article

Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine

2017-11-27

Abstract excerpt

Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, a...

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Literature Corpus work: 53a43496-5909-5b23-be10-fd7807a26255
DOI: 10.12688/f1000research.12399.1

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