Alpha-1 Antitrypsin Deficiency Adult Clinical and Genetic Linkage Study
The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, and undiagnosed. In addition, the investigators believe that the genetic and environmental factors that play an important role in the development of alpha-1 antitrypsin (AAT) liver disease, can be identified by comparing a cohort database of clinical disease information to linked biospecimen and DNA samples.
• Adults (≥ 18 years of age), with Alpha-1 Antitrypsin Deficiency
• Documented evidence Pi-ZZ phenotype or genotype
• Both genders, all races and ethnic groups
• Willingness to be followed for up to 5 years
• Adults (≥ 18 years of age), with alpha-1-antitrypsin deficiency
• Documented evidence PI-ZZ phenotype or genotype
• Documented evidence of portal hypertension or evidence of advanced liver disease defined by Child-Pugh Class B or C (score ≥ 7), or previous liver biopsy with an Ishak Fibrosis Score ≥ 4
• Both genders, all races and ethnic groups
• Willingness to be followed for up to 5 years
• Adults (≥ 18 years of age), with alpha-1-antitrypsin deficiency
• Pre-transplant documented evidence of PI-ZZ phenotype or genotype
• Documented evidence of liver transplantation
• Both genders, all races and ethnic groups