Thematic Area: von Hippel Lindau Disease
The following guidance document has been adopted based on standardized reviews and is followed in all ERKNet centers:
Dan Med J 2013; 60:B4763
- 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.
- The analysis of catecholamines in urine has been replaced by analysis of plasma-metanephrines.
- Prophylactic screening in families with an isolated case of central nervous system (CNS) hemangioblastoma are no longer recommended.
- 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.
- 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.