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The following is a summary of “Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease,” published in the May 2024 issue of Gastroenterology by Schönauer et al.

Autosomal dominant polycystic liver disease is rare and mainly due to variants in PRKCSH and SEC63 genes. It affects more women and varies widely in symptoms, from none to severe hepatomegaly.

Researchers conducted a retrospective study in Europe and the US to gather a large patient cohort for better disease prediction and management. 

They studied 265 international patients with polycystic liver disease due to pathogenic variants in PRKCSH or SEC63, looking at genotype-phenotype links. The primary focus was on age-adjusted liver volumes and liver-related hospitalizations. 

The results showed that classifying total liver volumes into progression groups predicted risk discrimination for future liver events regardless of sex and underlying genetic defects. The disease was more severe (defined as age at the first liver event) in women and those with PRKCSH variants compared to SEC63 variants. A sex-gene score and imaging effectively distinguished mild, moderate, and severe disease. 

Investigators concluded that imaging and genetic scoring can inform patients about the disease risk. Women with PRKCSH variants and rapid liver volume growth faced the highest risk of hospitalization for polycystic liver disease.

Source: sciencedirect.com/science/article/pii/S0016508523056032