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

Authors
  • Haring, Martijn P D1
  • Vriesendorp, Titia M2
  • Klein Wassink-Ruiter, Jolien S3
  • de Haas, Robbert J4
  • Gouw, Annette S H5
  • de Meijer, Vincent E1
  • 1 Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. , (Netherlands)
  • 2 Department of Internal Medicine, Isala Diabetes Center, Zwolle, the Netherlands. , (Netherlands)
  • 3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. , (Netherlands)
  • 4 Department of Radiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. , (Netherlands)
  • 5 Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. , (Netherlands)
Type
Published Article
Journal
Liver international : official journal of the International Association for the Study of the Liver
Publication Date
Nov 01, 2019
Volume
39
Issue
11
Pages
2042–2045
Identifiers
DOI: 10.1111/liv.14235
PMID: 31483937
Source
Medline
Keywords
Language
English
License
Unknown

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. © 2019 The Authors. Liver International published by John Wiley & Sons Ltd.

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