LAUSR

BACKGROUND Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the HNF1A gene which induces the proliferation of adenoma cells in liver parenchyma. LA has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of HNF1A-MODY (previously termed MODY3) patients and describe here its clinical, radiological, and pathological characteristics. METHODS 137 HNF1A-MODY cases from 74 families were screened by liver ultrasonography in 13 centers. Additional cases of LA were later included in the series. LA was confirmed by liver CT/MRI and/or histopathology. RESULTS Nine patients (6.5%) from 7 families were diagnosed with LA among 137 carriers of HNF1A mutation. Thereafter, 15 additional cases were included in the study. Diabetes mellitus was present in 87.5% patients with LA. LA was diagnosed due to intraabdominal or intratumoral bleeding in 25% of patients. Liver biochemistry was near normal in all patients. Liver imaging showed adenomas of various size and number. On MRI, most nodules had the radiological characteristics of steatotic adenomas. Histopathological confirmation of LA was available in 13 cases and these adenomas were mostly steatotic. Surgery was initially performed in 37.5% and liver disease progression was observed in 30% of patients. Among 14 pregnancies, no disease progression was observed. CONCLUSIONS The frequency of LA in a cohort of screened HNF1A-MODY patients and high incidence of LA progression and/or hemorrhage warrants the systematic screening for liver adenomatosis in HNF1A-MODY families.