Von Hippel-Lindau Syndrome

Horm Res Paediatr. 2015;84(3):145-52. doi: 10.1159/000431323. Epub 2015 Aug 5.


Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous system haemangioblastomas, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, endolymphatic sac tumours, and additionally, renal and pancreatic cystadenomas and epididymal cystadenomas in men. VHL syndrome is a highly complex disease; hence, the diagnosis is often difficult. The diagnosis of any of the characteristic tumours, particularly in children, is an implicit indication for the necessity of diagnosis and genetic tests in the patient and family members and for intensive supervision of carriers of the mutated gene, thereby improving early diagnosis and successful treatment of the malignancies.

Publication types

  • Review

MeSH terms

  • Child
  • Genetic Testing
  • Humans
  • Vascular Neoplasms / genetics
  • Vascular Neoplasms / pathology
  • Vascular Neoplasms / therapy
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / pathology
  • von Hippel-Lindau Disease / therapy*