Von Hippel-Lindau disease

external

• Synonyms

  • vHL disease

• Causes

  • VHL gene mutation
  • Ubiquitin mutation

• Effects

  • Cerebellar haemangioma70.0%
  • Cerebellar ataxia
  • Retinal haemangioblastoma60.0%
  • Hypertortuosity of retinal vessels
  • Renal cyst
  • Renal cell carcinoma60.0%
  • Pancreatic Cyst30.0%
  • Pancreatic islet tumour5.0%
  • Phaeochromocytoma5.0%
  • Endolymphatic sac tumour
  • Chronic headache
  • Malignant transformation

• Parents

  • Phakomatosis
  • Autosomal dominant disorder

• Description

  • "Mutations in the VHL gene (tumor suppressor gene) multiple tumours- benign cysts & malignant tumors The tumours are highly vascular. Present after adolescence with: - CNS haemangioblastoma(cerebellar ataxia) -70% - Spinal cord haemangioblastomas - cord compression - Retinal haemangioblastoma - 60% - Renal Cysts/Carcinoma - 60% (multiple & bilateral) - Phaeochromocytomas -5% - Pancreatic tumours - 30% Risk of kidney cancer in families with VHL = 60% In affected families
  • genetic testing can detect almost all cases. Management: Regular and lifelong surveillance for tumours Life expectancy - 50 yrs"