Epidemiological Insights Into Polycystic Liver Disease: Data From Forensic Autopsies in Portugal

ABSTRACT Polycystic liver disease (PLD) is a rare hereditary disorder characterised by multiple hepatic cysts, occurring either in isolation or in association with autosomal dominant polycystic kidney disease (ADPKD). Population‐based prevalence data are scarce, and no national data are available for Portugal. This study aimed to determine the prevalence of isolated PLD in a large autopsy cohort. A retrospective review of forensic autopsy reports from the Portuguese National Institute of Legal Medicine and Forensic Sciences (2017–2022) was conducted. Cases meeting the European Association for the Study of the Liver (EASL) criteria for PLD were identified macroscopically, and coexisting polycystic kidney disease (PKD) was additionally classified. Among 31 325 autopsies (72.9% male), isolated PLD was identified in 56 cases (0.18%; 95% CI: 0.13–0.23), while PLD coexisting with PKD was observed in 11 cases (0.04%; 95% CI: 0.02–0.06). Prevalence was higher in females (0.26%) than in males (0.15%; p = 0.04). The mean age of isolated PLD cases was 73.9 ± 15.5 years. Only 16.4% of PLD cases coexisted with ADPKD, supporting the notion that these entities may occur independently. No deaths were attributed to hepatic causes. These findings provide the first population‐level prevalence data for PLD in Portugal, are consistent with prior autopsy‐based studies, and demonstrate the utility of forensic autopsy in elucidating the epidemiology of hereditary hepatic disorders.