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VHL (Von Hippel-Lindau) disease – clinical criteria

This document is a quick and concise evidence-based summary to provide additional information, instruction, or guidance to complement a treatment protocol or clinical resource document. 

The clinical diagnosis of von Hippel-Lindau (VHL) disease is established in Lonser et al. (2003),r Butman et al. (2008)r and Maher et al. (2011):r

A simplex case (i.e. an individual with no known family history of VHL disease) presenting with two or more characteristic lesions:

  • two or more haemangioblastoma​s of the retina,* spine or brain or a single haemangioblastoma​ in association with a visceral manifestation (e.g. multiple kidney or pancreatic cysts)
  • renal cell carcinoma
  • adrenal or extra-adrenal phaeochromocytomas​
  • endolymphatic sac tumours (ELST), papillary cystadenomas of the epididymis or broad ligament, or pancreatic neuroendocrine tumours.

An individual with a positive family history of VHL disease who has one or more of the following disease manifestations:

  • retinal,* spinal or cerebellar haemangioblastoma
  • adrenal or extra-adrenal phaeochromocytoma
  • renal cell carcinoma
  • multiple renal and pancreatic cysts.

*Retinal haemangioblastomas are commonly referred to as retinal angiomas.​

Further information: Gene Reviews 

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Version 4

Date Summary of changes
21/10/2021

Document reviewed at the October 2019 Cancer Genetics Reference Committee meeting alongside VHL protocols ID 397 and ID 615. Discussions continued via email. Approved for publication with the following changes made:

  • Bullet 4: 'less commonly' deleted
  • 'Note: other lesions characteristic of VHL are ELST and pancreatic neuroendocrine tumours; however these are not typically used to make a clinical diagnosis of VHL.' deleted

Version number changed to V.4. Next review in line with ID 615.

Version 3

Date Summary of changes
31/05/2017

Transferred to new eviQ website. 

Previous website ID: 280
14/09/2018

VHL protocols (ID 397 and IF 615)  reviewed at the May 2018 Reference Committee meeting and this document finalised over email.

The format of the document was updated for readability

Version number updated to 3.

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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https://www.eviq.org.au/p/3162

20 Apr 2024