Alpha-1 Foundation
The goal of this study is to provide liver stiffness screenings (FibroScans) to patients with Alpha-1 Antitrypsin Deficiency for the following purposes: To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene. To assess whether the coexistence of metabolic or environmental cofactors, such as obesity, diabetes, alcohol use, or hepatic steatosis, modifies the risk of liver fibrosis among those with alpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by pathogenic variants in the SERPINA1 gene, resulting in reduced circulating alpha-1 antitrypsin (AAT) levels and accumulation of misfolded AAT protein within hepatocytes. The homozygous PiZZ genotype confers the highest risk for chronic liver disease, cirrhosis, and hepatocellular carcinoma, while heterozygous carriers have a modestly increased risk, especially when metabolic or environmental cofactors such as obesity, diabetes, alcohol use, or hepatic steatosis are present. Liver disease in AATD is often clinically silent…
Inclusion Criteria: * Diagnosis of Alpha1 or a mutation in SERPINA1 * Enrollment in the Alpha-1 Research Registry * Willingness to provide informed consent * Aged 18 years and older Exclusion Criteria: * Inability to undergo VCTE (unable to lie flat for 10 minutes) * Pregnancy (self-reported) * Ascites (self-reported) * Previous FibroScan in the last 365 days * Previous liver transplant
Arctuva estimate
Actual pay is set by the research site.
Verify or correct the compensation shown for this listing.