Alpha-1 Antitrypsin Deficiency (A1AT)

A1AT deficiency is a rare genetic disorder that causes defective production of A1AT that may result in serious respiratory disease in adults and/or liver disease at any age. The current standard of care for patients with A1AT deficiency involves chronic replacement of A1AT protein through a weekly intravenous infusion to address their lung disease. Prevalence of A1AT deficiency is estimated at 1 in 5,000 to 1 in 3,500 people with European ancestry, leading to approximately 100,000 A1AT deficiency patients in US alone1. It is estimated that only fewer than 10,000 patients in the US are on protein augmentation therapy (PAT) with A1AT protein, translating to treatment rates of only 6-7%2.

References:

  1. 1. Healthcare Provider’s Guide. The Alpha-1 Foundation. Version 2.0 (2015).
  2. Stoller and Aboussouan. Am J Respir Crit Care Med. 2012 Feb 1;185(3):246-59.

Resources for A1AT Deficiency