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

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

*Corresponding author for this work

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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
Issue number8
Number of pages12
Publication statusPublished - Aug 2022

Bibliographical note

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


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