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.
Who can participate
Age range18 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Liver Biopsy Group:
Inclusion Criteria
* 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
Exclusion Criteria:
* Evidence of advanced liver disease defined by Child-Pugh Class B or C (score ≥ 7)
* Known advanced lung disease defined as forced expiratory volume at one second (FEV1) \< 40 % of Predicted
* History of Organ Transplantation
* Known congenital or metabolic liver disease (e.g.: Wilson's, glycogen storage, cystic fibrosis)or iron overload as evidenced by ≥ Grade 3 iron staining on a previous liver biopsy
* Evidence of chronic hepatitis B (marked by the presence of HBsAg in serum) or Hepatitis C (marked by the presence of anti-hepatitis C virus (HCV) or HCV RNA in serum)
* Vascular disorders of the liver (e.g.: cardiac sclerosis, acute or chronic Budd-Chiari, hepatoportal sclerosis, peliosis)
* Known HIV positivity
* Diagnosis of malignancy within the last 5 years
* Active substance abuse, that in the opinion of the study investigator, would interfere with adherence to study requirements
* Concomitant severe underlying systemic illness or medical condition which in the opinion of the investigator, would make the patient unsuitable for the study or would interfere with completion of follow-up
* Inability to comply with the longitudinal follow-up as outlined in the protocol
* Failure of the participant to sign inf…
What they're measuring
1
The risk and rate of histologic liver injury progression, as measured by liver biopsy, over a 5-year period.
Timeframe: Liver biopsy performed in Year 1 and Year 5