Alpha 1 Antitrypsin Deficiency & Pulmonary
Up to 100,000 people in US may have Alpha-1 deficiency.
90% of those are undiagnosed.
About 25 million people in the US may be carriers of the defective Alpha-1 gene.
If undetected 75-85% of patients with severe Alpha-1 Antitrypsin Deficiency will develop emphysema.
Alpha-1 is an inherited disorder.
Alpha-1 is more common than better known disorders such as cystic fibrosis but is frequently misdiagnosed or undiagnosed.
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|Emphysema due to alpha-1 antitrypsin deficiency
|Human alpha1-proteinase inhibitor