The following guidance document has been adopted based on standardized reviews and is followed in all ERKNet centers:
Dan Med J 2013; 60:B4763
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:
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 The analysis of catecholamines in urine has been replaced by analysis of plasma-metanephrines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.