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VHL (von Hippel-Lindau disease) – risk management

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Von Hippel-Lindau (VHL) syndrome is an autosomal dominant predisposition to renal clear cell carcinoma, phaeochromocytoma, retinal angiomas and central nervous system haemangioblastomas. VHL is due to mutations in the VHL gene and has a 21%r new mutation rate. Genetic anticipation has been reported in families with VHL.

The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up. 

  • Known VHL gene mutation carrier.
  • Individual at 50% risk. 
  • Individual fulfils VHL clinical criteria but no mutation has been found.

Exclusion criteria

  • A first degree (blood) relative of an individual with a clinical diagnosis of VHL but no mutation. 
Tumour  VHL
(to 70 years)		 Mean age
(years)
Retinal angioma  Up to 92%* 25
Cerebellar haemangioblastomas  Up to 85%* 30
Renal cell carcinoma Up to 80%* 40 (+/- 10 yrs)
Epididymal cystadenomas Up to 54% of malesr -
Spinal haemangioblastoma  Up to 50%* 33
Phaeochromocytoma  Up to 30%* 24 
Pancreatic neuroendocrine tumours 10-17%r 35
Endolymphatic sac tumours  Up to 4%r 30

*Based on the 2007 review of 573 VHL patients by Ong et al.r These figures are likely to be an over estimate of risk as no adjustment was made for proband ascertainment. 

Cancer type Recommendations
Renal cell carcinoma and pancreatic neuroendocrine tumours Surveillance

Abdominal MRI 2 yearly from 10 years with abdominal ultrasound in intervening years.
Risk-reducing medication

There is no evidence to recommend the utilisation of risk-reducing medication outside clinical trials.
Phaeochromocytoma Surveillance
  • Annual physical examination with BP from 2 years of age.
  • Annual fasting free plasma metanephrines and if available plasma 3-methoxytyramine (if plasma unavailable 24 hour urine free metanephrines) from 2 years of age
Risk-reducing medication

There is no evidence to recommend the utilisation of risk-reducing medication outside clinical trials.

Further information:  measurement and tests for biogenic amines including information for patients who are having tests

Tumour type Recommendations
Cerebellar and spinal haemangioblastoma Surveillance MRI brain and spine 2 yearly from age 10 years.
Risk- reducing medication There is no evidence to recommend the utilisation of risk-reducing medication outside clinical trials.
Retinal angioma Surveillance Paediatric review at birth and annual ophthalmologic review from 1 year of age.
Endolymphatic sac tumours Surveillance

Baseline audiometry at school entry then 2-3 yearly thereafter.

MRI’s performed as above to pay particular attention to the detection of endolymphatic sac tumours
Epididymal cystadenomas Surveillance No routine surveillance required as rarely symptomatic.

Pregnancy

While studies are conflicting, there may be a risk of progression of cerebellar haemangioblastomas during pregnancy. Undiagnosed phaeochromocytoma may pose additional risks during pregnancy, especially during labour and delivery. Referral to a specialist high risk pregnancy unit should be considered.

Hearing loss and vestibulopathy

Irreversible hearing loss, tinnitus, vertigo and cranial nerve dysfunction can occur due to endolymphatic sac tumours. The early detection of hearing loss and vestibulopathy and surgical intervention can preserve hearing and ameliorate vestibular symptoms.r

Renal cell carcinoma

Where possible, the management of renal cell carcinomas should be undertaken in a unit with expertise in nephron-sparing surgery.

Internationally agreed expert opinion.

First degree (blood) relatives (parents/brothers/sisters/children) are at 50% risk of having this condition. First degree relatives should be referred to a local Family Cancer Clinic. 

Link to information sheet on Informing family members about hereditary cancer.

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Version 5

Date Summary of changes
20/12/2010 Approved.
06/05/2013

Discussed at August 20, 2012, meeting, review continued via email and the following changes made:

  • Opening paragraph updated.
  • Target group - point 3 family changed to individual.
  • Lifetime risk of cancer - heading changed to lifetime risk of tumour and table updated.
  • Cancer risk management guidelines - table updated.
  • Non-cancer risk management guidelines table - added.
  • Management of associated health problems and side effects - pregnancy section updated, hearing loss and vestibulopathy section added.
  • Reference list reviewed and updated.
14/04/2016 Sentence added to Risk Management template: "This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour.  The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up". 
31/05/2017 Transferred to new eviQ website. Version number changed to V.3.
 

 Further references used to develop this protocol:

Manski, T. J., D. K. Heffner, G. M. Glenn, et al. 1997. "Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease." JAMA 277(18):1461-1466.

Zanotelli, D. B., E. Bruder, E. Wight, et al. 2010. "Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease." Arch Gynecol Obstet 282(3):343-346. 
14/09/2018

Discussed at May 24, 2018 meeting, review continued via email and the following changes made:

  • Summary - description of VHL updated and sentence re genetic anticipation reported in families with VHL added. Sentence regarding the guideline has been developed for individuals who do NOT have a relevant cancer/tumour removed.
  • Lifetime risk of cancer table – title changed to ‘tumour/cancer’ and tumour/ancer types and figures updated
  • Recommendations – cancers/tumours separated into cancer and non-cancer recommendation tables – recommendations updated as per new evidence/references
    • Phaeochromocytoma recommendations to be made consistent with SDH guidelines
    • Endolymphatic sac tumours – add comment re MRI brain screening to pay particular attention to endolytic sac tumours
  • Management of associated health problems – updated and RCC comment added
  • References updated
  • Version updated to 4
28/08/2019 Protocol title changed from 'Risk management for von Hippel-Lindau (VHL)' to 'VHL (von Hippel-Lindau disease) – risk management' in accordance with Cancer Genetics Reference Committees' consensus. Version number increased to V.5.

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. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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The currency of this information is guaranteed only up until the date of printing, for any updates please check:

https://www.eviq.org.au/p/397

18 Feb 2020