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Natural history of liver adenomatosis: a long-term observational study

Louise Barbier, Jean-Charles Nault, Fanny Dujardin, Béatrice Scotto, Marie Besson, Anne de Muret, Pascal Bourlier, Jessica Zucman-Rossi, Ephrem Salamé, Yannick Bacq
Journal of Hepatology 2019 August 13

BACKGROUND AND AIMS: Liver adenomatosis (LA) is characterized by the presence of at least 10 hepatocellular adenomas (HCAs) but the natural history of this rare liver disorder remains unclear.

METHODS: We analyzed in a monocentric cohort the natural history of 40 patients with LA, excluding glycogen storage. Pathological examination with immunostaining and molecular biology of surgical specimens or liver biopsies were performed.

RESULTS: Forty patients (36 female) were included with a median follow-up of 10.6 [1.9-26.1] years. Six (15%) patients had familial LA all with germline HNF-1α mutation. Median age at diagnosis was 39 [9-55] years. Thirty-three (94%) women had a history of oral contraception, and 29 (81%) women had pregnancy before LA diagnosis. Overall, thirty-seven (93%) patients underwent surgery at diagnosis. Classification of HCAs showed 46% of patients with HNF-1α mutated HCA, 31% with inflammatory HCA, 3% with sonic hedgehog HCA, 8% with unclassified HCA. Only 15% of the patients demonstrated a "mixed LA" with different HCA subtypes. Hepatic complications were identified in 7 patients: one patient (3%) died from recurrent hepatocellular carcinoma after liver transplantation, and six (15%) had hemorrhages, among them five occurred at diagnosis with a fatal one during pregnancy, and two occurred in male patients with familial LA. Four patients (10%) had repeated liver resections. Finally, four (10%) patients developed extra hepatic malignancies during follow-up.

CONCLUSIONS: The diversity in HCA subtypes, the occurrence of bleeding and malignant transformation during long-term follow-up underline the heterogeneous nature of LA that justify close and specific management. In patients with germline HNF-1α mutation, familial LA occurred equally in male and female, with a high rate of bleeding in male patients.

LAY SUMMARY: Liver adenomatosis is a rare disease characterized by the presence of 10 or more hepatocellular adenomas that may rarely be of genetic origin. Patients with liver adenomatosis have multiple adenomas of different subtypes, with a risk of bleeding and malignant transformation that justify a specific management and follow-up.


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