United States Targeted Detection Program for Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition in which less than 10 % of the individuals are identified. This under-recognition is a barrier to lifestyle modifications, genetic counseling, and specific treatment. Targeted screening allows for high detection rates and lower costs than population screening. Little is known about the prevalence and demographic and clinical characteristics of individuals with the main AATD genotypes. We retrospectively analyzed data on adult subjects who underwent targeted screening for AATD from December 2003 to July 2009. AATD testing was ordered according to physician discretion, primarily in patients with COPD and unexplained chronic liver disease. We used an algorithm that begins with dried blood spot (DBS) genotyping and uses DBS alpha-1.