Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A-MODY: Watch out for winkers

Martijn P. D. Haring, Titia M. Vriesendorp, Jolien S. Klein Wassink-Ruiter, Robbert J. de Haas, Annette S. H. Gouw, Vincent E. de Meijer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
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Abstract

Hepatocyte nuclear factor 1A (HNF1A) maturity-onset diabetes of the young (MODY) is a monogenetic, autosomal dominantly inherited form of diabetes. HNF1A-MODY is associated with HNF1A-inactivated hepatocellular adenoma (H-HCA) formation. Hepatocellular adenoma (HCA) are benign liver tumours and related complications are rare but serious: hepatic haemorrhage and malignant transformation. Guidelines recommend resection of all HCA in men and do not take any co-occurring metabolic disorders into account. We report a family with HCA preceding diabetes mellitus. Male index patient presented with numerous, irresectable HCA. After initial diagnostic and aetiologic uncertainty HNF1A germline mutation c.815G>A (p.Arg272His) was confirmed 8 years later. No HCA-related complications occurred. His diabetic mother was diagnosed with HCA after severe hepatic haemorrhage years before. HNF1A-MODY should be considered in (non-)diabetic (male) patients with H-HCA. We advocate liver biopsy and, if necessary, genetic analysis to precede any intervention for HCA in males and screening for HCA in HNF1A-MODY patients.

Original languageEnglish
Number of pages4
JournalLiver International
DOIs
Publication statusE-pub ahead of print - 4-Sep-2019

Keywords

  • hepatocellular adenoma
  • HNF1A-MODY
  • liver adenomatosis
  • treatment algorithm
  • I ALPHA-GENE
  • LIVER ADENOMATOSIS
  • MUTATIONS
  • MODY3

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