Von Hippel-Lindau

Von Hippel-Lindau (VHL) disease is an autosomal dominant condition which predisposes to malignant and benign neoplasms. It is caused by mutations/deletions in a tumour suppressor gene on chromosome 3. 

The most common neoplasms in Von Hippel-Lindau are: 
  • Retinal haemangioblastoma 
  • Cerebellar haemangioblastoma 
  • Spinal cord haemangioblastoma 
  • Renal cell carcinoma 
  • Pheochromocytoma 
  • Pancreatic 

VHL disease may be subdivided into: 
  • Type 1 VHL – no pheochromocytoma 
  • Type 2 VHL – with phaeochromocytoma 

Possible clinical manifestations of of VHL include: 
  • retinal detachment 
  • visual loss 
  • cerebellar signs – ataxia, nystagmus
  • headache 
  • vomiting 
  • subarachnoid haemorrhage - due to cerebellar lesions 

Life expectancy of patients with VHL is <50 yrs.

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