Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that can sometimes lead to liver disease and/or emphysema. There are approximately 90,000 people living in the United States with undiagnosed AAT deficiency. On average, a diagnosis of AAT deficiency takes up to 7 years and 3 doctors for discovery.
The importance of early diagnosis in AAT deficiency cannot be overlooked. Not only does it help slow the progressive lung function decline characteristic of Alpha-1, but it can reduce the frequency and severity of COPD exacerbations, if you have AAT deficiency emphysema.
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