Von Hippel-Lindau (VHL)

Inherited disorder causing multiple tumours, both benign and malignant, in the central nervous system (CNS) and viscera

Aetiology

  • Autosomal dominant mutation in VHL gene which leads to accumulation of HIF proteins and stimulation of cellular proliferation

Clinical presentation

  • May be diagnosed from family history and genetic testing
  • May present with symptoms of the various tumours
  • Range of vascular tumours

Investigations

  • Regular and lifelong surveillance for tumours
  • Genetic counselling/testing of family members

Management

  • Manage tumours appropriately