Jose Derdoy

OVERVIEW: What every practitioner needs to know Are you sure your patient has alpha-1-antitrypsin deficiency? What are the typical findings for this disease? Alpha-1-antitrypsin (a1AT) deficiency is an autosomal, co-dominant genetic disease most commonly caused by homozygosity for the Z mutant of the a1AT gene. These patients are called ZZ, or PIZZ in WHO nomenclature.…