Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder that can cause emphysema even without exposure to tobacco smoke. AATD is considered one of the most common genetic disease in persons of northern European heritage, and its frequency in Europe and North America is comparable to that of Cystic Fibrosis (1 in 2000 to 1 in 7000).
According to the genotype, AATD causes a complete or partial activity reduction of the AAT protein in the blood and lungs with deposition of excessive abnormal AAT protein in liver cells. The most common deficiency allele is Pl*Z and a large majority of individuals with severe AAT deficiency are PI type Z. All the different allele’s phenotypes, which are also indicator of the disease severity, have been subdivided into the Epiomic™ database for 8 different countries.
Alpha-1 antitrypsin (AAT) is a serine protease inhibitor and its principal function is to inactivate neutrophil elastase, preventing tissue damage in liver and lungs. Without sufficient levels of AAT, neutrophil elastase can attack and harm healthy tissue in the lungs. The disease can present with hepatic dysfunction in individuals from infancy to adulthood and with obstructive lung disease, characteristically in individuals older age than 30. With 120 sub-populations, Epiomic™ database represents a useful tool to guide you deep into the clinical aspects of this congenital disease.