Von Hippel-Lindau Disease (VHL)

VHL is an autosomal dominant disorder, caused by mutations in the VHL gene, which is on chromosome 3.

Signs and symptoms

  • Hemangioblastomas (benign blood vessel tumours). VHL-associated hemangioblastomas develop in the brain, spinal cord and retina. If untreated, they can lead to blindness and paraplegia. Signs of hemangioblastomas may include: vomiting; headaches; balance problems; weakness; high blood pressure; persistent pain.
  • Increased risk of renal cysts (both simple and complex) and renal tumours (often bilateral and multifocal). VHL kidney cancer is always exclusively of clear cell histology, and it can metastisise and become aggressive. (BHD kidney cancer is rarely clear cell—see What is BHD?). 28-45% of VHL patients get kidney cancer.
  • Pheochromocytomas (tumours of the adrenal gland).
  • Endolymphatic sac tumours (tumours of the ear), which can lead to hearing loss.
  • Pancreatic cysts and neoplasms.
  • Epididymal cystadenomas (tumours of the epididymis in the male reproductive system).

Diagnosis

  • An accurate diagnosis is available by genetic testing, as the VHL gene has been identified.

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Publication date: September 2012
Review date: September 2015