Alpha-1 Antitrypsin Deficiency Adult Liver Study

Who can take part

• 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

Who cannot take part

• 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
• 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
• Known congenital or metabolic liver disease (e.g.: Wilson's, glycogen storage, cystic fibrosis) and iron overload as evidenced by ≥ Grade 3 iron staining on a previous liver biopsy
• 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
• 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 study requirements
• 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
• 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
• Failure of the participant to sign informed consent or Health Insurance Portability and Accountability Act (HIPAA) documents; Known Severe Liver Disease Group:
• History of Organ Transplantation
• 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 which in the opinion of the investigator, would make the patient's follow-up problematic or the results uninterpretable
• Failure of the participant to sign informed consent or HIPAA documents; Post Liver Transplant Group
• Failure of the participant to sign informed consent or HIPAA documents
• 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)
• Evidence of chronic hepatitis B (marked by the presence of HBsAg in serum) or Hepatitis C (marked by the presence of anti-HCV or HCV RNA in serum)
• Active substance abuse, that in the opinion of the study investigator, would interfere with adherence to study requirements
• Inability to comply with the longitudinal follow-up as outlined in the protocol
• Active substance abuse, that in the opinion of the study investigator, would interfere with adherence to study requirements
• Inability to comply with the longitudinal follow-up as outlined in the protocol
• Active substance abuse, that in the opinion of the study investigator, would interfere with adherence to study requirements

Other criteria

• Liver Biopsy Group: