von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

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  • Marie Louise M Binderup, University of Copenhagen
  • ,
  • Maja Smerdel, University of Southern Denmark
  • ,
  • Line Borgwadt, University of Copenhagen
  • ,
  • Signe Sparre Beck Nielsen
  • Mia Gebauer Madsen
  • ,
  • Hans Ulrik Møller
  • ,
  • Jens Folke Kiilgaard, University of Copenhagen
  • ,
  • Lennart Friis-Hansen, University of Copenhagen
  • ,
  • Vibeke Harbud, The Association for vHL Patients and their Families
  • ,
  • Søren Cortnum
  • Hanne Owen
  • ,
  • Steen Gimsing, University of Southern Denmark
  • ,
  • Henning Anker Friis Juhl, University of Southern Denmark
  • ,
  • Sune Munthe, University of Southern Denmark
  • ,
  • Marianne Geilswijk
  • Åse Krogh Rasmussen, University of Copenhagen
  • ,
  • Ulla Møldrup
  • ,
  • Ole Graumann, University of Southern Denmark
  • ,
  • Frede Donskov, University of Southern Denmark
  • ,
  • Henning Grønbæk
  • Brian Stausbøl-Grøn
  • ,
  • Ove Schaffalitzky de Muckadell, University of Southern Denmark
  • ,
  • Ulrich Knigge, University of Copenhagen
  • ,
  • Gitte Dam
  • Karin AW Wadt, University of Copenhagen
  • ,
  • Lars Bøgeskov, University of Copenhagen
  • ,
  • Per Bagi, University of Copenhagen
  • ,
  • Lars Lund, University of Southern Denmark
  • ,
  • Kirstine Stochholm
  • Lilian Bomme Ousager, University of Southern Denmark
  • ,
  • Lone Sunde

von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This guideline is based on evidence from the international vHL literature and extensive research of geno- and phenotypic characteristics, disease progression and surveillance effect in the national Danish vHL cohort. We included the views and preferences of the Danish vHL patients, ensured consensus among Danish experts and compared with international recommendations. Recommendations: vHL can be diagnosed on clinical criteria, only; however, in most cases the diagnosis can be supported by identification of a pathogenic or likely pathogenic variant in VHL. Surveillance should be initiated in childhood in persons with, or at risk of, vHL, and include regular examination of the retina, CNS, inner ear, kidneys, neuroendocrine glands, and pancreas. Treatment of vHL manifestations should be planned to optimize the chance of cure, without unnecessary sequelae. Most manifestations are currently treated by surgery. However, belzutifan, that targets HIF-2α was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with vHL-associated RCC, CNS hemangioblastomas, or PNETs, not requiring immediate surgery. Diagnostics, surveillance, and treatment of vHL can be undertaken successfully by experts collaborating in multidisciplinary teams. Systematic registration, collaboration with patient organisations, and research are fundamental for the continuous improvement of clinical care and optimization of outcome with minimal patient inconvenience.

Original languageEnglish
Article number104538
JournalEuropean Journal of Medical Genetics
Volume65
Issue8
ISSN1769-7212
DOIs
Publication statusPublished - Aug 2022

    Research areas

  • Guideline, Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma, Surveillance, von Hippel-Lindau disease

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