Liver disease in patients with alpha1 antitrypsin deficiency PiZZ and PiSZ from the Spanish EARCO registry.

<bold>Introduction:</bold> Alpha-1 antitrypsin deficiency (AATD) predisposes to the development of emphysema and chronic liver disease. The aim of this study was to determine the prevalence of liver disease in patients with PIZZ and PiSZ AATD in the Spanish cohort of the EARCO registry and to explore which techniques are used for liver disease screening. <bold>Methods:</bold> EARCO is an international, prospective registry that includes patients with AATD. The clinical Variables, biomarkers, comorbidities, and liver function of cases with PiSZ vs. Pi ZZ genotype from the Spanish cohort were compared. <bold>Results:</bold> 60 ZZ and 346 SZ patients were included. 48% were women and the mean age was 54 (20)years. 57% had only lung disease, 6% only liver disease and both diseases coexisted in 6%. Compared to SZ patients, ZZs had higher frequency of lung disease (79% vs 51%, p<0.001) and liver fibrosis (4% vs 0%, p<0.001). 95% had at least one liver enzyme determination. AST and GGT levels were higher in ZZs (25 IU/L vs 23 IU/L, p=0.014 and 30 IU/L vs 21 IU/L, p<0.001). FIB-4 score was also higher in ZZs (1.3 vs 1, p<0.001). In total, 25% were evaluated by transitional elastography (83 ZZ vs 63 SZ, p<0.001). No differences were found in liver stiffness (5.5 kPa vs 5.3 kPa, p=0.140) and, although the proportion of patients with elastography ≥7.1 kPa (suggestive of fibrosis) was higher in ZZs (27% vs 15%, p<0.063),these differences did not reach statistical signif. <bold>Conclusions:</bold> In the Spanish EARCO registry, up to 12% of patients had liver disease. Although liver enzyme tests were performed in most patients, it is confirmed that the use of transitional elastography for liver disease screening is low in this cohort.