O-41 cirrhosis in patients with alfa 1 antitrypsin deficiency; what are we missing?

Introduction and Objectives: It's common to include alfa 1 antitrypsin deficiency (AATD) in the diagnostic workup of children with cirrhosis, unlike in adults, where we seldom test for it. Some of its characteristics are unusual and we can miss them as it tends to have a silent clinical course, showing advanced indirect signs due to portal hypertension. This study aimed to establishing the biochemical, clinical, molecular, and genetic characteristics that can lead to the diagnosis of cirrhosis due to ATTD. Materials and Methods: We analyzed 26 cases of adults with AATD related disease in Costa Rica. We establish presentation based on age, gender, AAT levels, phenotype genetic characteristics and clinical, biochemical and histological features. Results: 26 patients had either hepatic or pulmonary chronic diseases in relation to AAT enzyme alterations, The proportion by sex was 1:1 and the mean age of diagnosis was 42. Of 21 patients with phenotyping, 9 were homozygous PI*ZZ (7) or PI: NullNull (2). Only this last group had the pulmonary disease. The ones homozygous for the PI*ZZ mutation all developed hepatic disease. Nonetheless, we also found that seven were heterozygous for PI*MNull, 4 for PI*MZ and 1 was PI*SZ. ATT levels were measured in 20 patients, 20% of them had normal levels and 15% were nondetectable. When a biopsy was obtained, the PAS staining was positive in 100% of cases. Several patients had liver steatosis instead of cirrhosis which was handled as NASH due to the similarity in clinical characteristics. Conclusions: AATD can't only be screened through AAT levels as they can be normal in up to 20% of patients. We should establish the phenotype and keep in mind that heterozygous can develop clinical disease. The association with other forms of liver disease, especially such as MAFLD, is high and so we should screen for AATD in search of possible decompensation.