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

Barbier, Louise; Nault, Jean‐Charles; Dujardin, Fanny; Scotto, B.; Besson, M. da Rocha; Muret, A. De; Bourlier, Pascal; Zucman‐Rossi, Jessica; Salamé, Ephrem; Bacq, Yannick

doi:10.1016/j.jhep.2019.08.004

Cited by 37 publications

(54 citation statements)

References 29 publications

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“…Barbier et al observed four cases of LA prior to DM in a family with a HNF1A germline mutation . In two male patients, HCA was diagnosed by haemorrhage …”

Section: Discussionmentioning

confidence: 99%

“…In addition, they report three patients who were diagnosed with HCA only after severe hepatic bleeding . Barbier et al observed four cases of LA prior to DM in a family with a HNF1A germline mutation . In two male patients, HCA was diagnosed by haemorrhage …”

Section: Discussionmentioning

confidence: 99%

“…10 Barbier et al observed four cases of LA prior to DM in a family with a HNF1A germline mutation. 9 In two male patients, HCA was diagnosed by haemorrhage. 9 Malignant transformation from HCA to HCC is mostly observed in HCA carrying either an exon 3 b-catenin mutation, or in HCA occurring in males.…”

Section: Haddouche Et Al Have Described the Largest Series Of Patientsmentioning

confidence: 99%

“…Liver adenomatosis (LA) has first been described in the 1960s and has later been defined by the occurrence of 10 or more HCA . It is a different entity from regular HCA, as it occurs more frequently in the presence of underlying liver disease such as HNF1A‐MODY or glycogen storage disease . The 2016 European guideline on benign liver tumours acknowledges the formation of HCA in metabolic disorders such as HNF1A‐MODY, and recommends HCA resection in males, irrespective of size or concurring metabolic diagnosis .…”

Section: Introductionmentioning

confidence: 99%

“…6,7 It is a different entity from regular HCA, as it occurs more frequently in the presence of underlying liver disease such as HNF1A-MODY or glycogen storage disease. [8][9][10] The 2016 European guideline on benign liver tumours acknowledges the formation of HCA in metabolic disorders such as HNF1A-MODY, and recommends HCA resection in males, irrespective of size or concurring metabolic diagnosis. 11 Phenotype penetrance varies in families with identical HNF1A mutations, although MODY is typically diagnosed prior to H-HCA.…”

Section: Introductionmentioning

confidence: 99%

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

Haring

Vriesendorp

Wassink-Ruiter

et al. 2019

Liver International

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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.

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“…Barbier et al observed four cases of LA prior to DM in a family with a HNF1A germline mutation . In two male patients, HCA was diagnosed by haemorrhage …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%