Hepatic features in patients with severe alpha1-antitrypsin deficiency: a single institution experience

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that primarily affects the lungs and liver. The severity of liver involvement can vary widely among affected individuals (fibrosis, cirrhosis, liver failure). Several biomarkers and imaging techniques are useful for assessing liver function and detecting liver damage. Liver biopsy may be performed to confirm the diagnosis. Aim of our study is to define a clinical work for diagnosis and follow-up of severe AATD patients, to identify the most suitable biochemical or echographic parameters for the management of this rare involvement We enrolled 65 patients between 2020 and 2023 and performed a full biochemical panel (metabolic and liver function tests, screening for viral hepatitis, autoimmunity, CBC, screening for overload diseases), hepatic ultrasound and fibroscan at the time of diagnosis The sample of patients enrolled includes different genotypes (ZZ the most common, but also several patients with rare genotypes) with severe AATD. To quantify the degree of fibrosis at the liver level we used fibroscan and found an average stiffness value of 5.72 (SD ±2.49) associated with a CAP (Controlled Attenuation Parameter) score of 218 (SD ±35) As for the biochemical analysis: Total protein, Albumin, IgG, IgA, IgM levels, GGT, AST, ALT, Ceruloplasmin, iron status, autoantibodies (AMA, ANA, ASMA, LKT, ENA), HBsAg, HBsAb, HBcAb, HCV antibodies were performed to detect any other cause of hepatic disease. So far, every other cause of hepatic distress has been ruled out Early detection through genetic testing and close monitoring are crucial for managing AATD and its associated complications, including liver involvement