Thematic Area:  

von Hippel Lindau Disease

The following guidance document has been adopted based on standardized reviews and is followed in all ERKNet centers:

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. 

Dan Med J 2013; 60:B4763

Core Recommendations:

1. An individual has vHL if the criteria in either “A” or “B”, or both are fulfilled:

A: The individual has at least two of the following manifestations:  

• Hemangioblastoma in the retina or the central nervous system,
• familial or bilateral pheochromocytomas
• familial, multiple, or early onset renal cell carcinomas
• endolymphatic sac tumour in the inner ear

B: The individual has at least one of the manifestations stated above, and a pathogenic mutation in  VHL or at least one first-degree relative with vHL.

2. The analysis of catecholamines in urine has been replaced by analysis of plasma-metanephrines

3. Prophylactic screening in families with an isolated case of central nervous system (CNS) hemangioblastoma are no longer recommended.

4. Genetic work-up of iIndividuals who are affected with vHL and counselling of individuals at-risk of vHL are required for the diagnostic and for the regular prophylactic examinations relevant to different age groups.

5.  The examinations are recommended to start from infancy with annual follow-up adapted to the age. 

Comments by Evaluators:

• The recommendations are based only on experts from Danemark and based on longstanding clinical experience and review of the literature.
• No representation of nephrologist, pediatrician, psychologist, oncologist, patients representatives.