Von Hippel Lindau syndrome and the VHL gene

Von Hippel Lindau and the VHL gene

Von Hippel Lindau syndrome affects around 1 in 36,000 people. It is caused by a mutation in the VHL gene.

The VHL gene is involved in cell growth. Inherited mutations in the VHL gene result in cysts and tumours made up of blood vessels, called haemangioblastomas. It is also associated with a rare tumour involving the adrenal gland, called a pheochromocytoma. Pheochromocytoma can secrete adrenalin and other hormones. Knowing that you have VHL is important as it allows screening to prevent the growths and cysts from causing damage or becoming cancerous. Screening needs to start at a young age.

Here are some of the common features of Von Hippel Lindau syndrome and what to do about it.


Haemangioblastoma are abnormal growth of blood vessels. They tend to occur in the cerebellum (lower part of the brain) and spinal cord. When they occur in the eye, they are called retinal angioma. They rarely become cancer but can damage surrounding tissues if they grow large and, in the case of the eye, cause blindness if not detected early. They affect 50% to 90% of people with VHL at some time in their lives.

Eye checks start at birth and are done every year by an ophthalmologist. A MRI of the brain and spine is recommended every 2 years from age 10.

Endolymphatic sac tumour of the inner ear

These cysts affect the inner and can cause hearing loss, tinnitus, vertigo and problems with the facial nerve. Surgery is curative.

Hearing checks should start around age 4 and be repeated every few years during childhood.

Cysts involving the kidney and pancreas

Kidney cysts are quite common. In VHL however, there may be lots of cysts and they can occur at a young age. A kidney cancer, called a clear cell renal cell carcinoma (RCC), develops if the cysts are not removed when they get to a certain size. Without screening, 80% of people with VHL would get a RCC at an average age of 40.

The cysts in the pancreas can develop into tumours called neuroendocrine tumours. Most tumours don't secrete hormones and rarely they can be become cancers.

Screening allows the growth to be removed before problems or cancers arise. It is not usually necessary to remove the whole kidney or pancreas, just the cyst or growth. Screening involves an MRI alternated with an ultrasound every year starting at age 10.


Pheochromocytoma are rare affecting perhaps 1 in 2000 people. They are usually small growth in the adrenal glands, which sits above the kidneys. They cause problems by secreting the "fight or flight" hormone adrenalin. Rarely, they can develop into cancer.

Screening starts at age 2, measuring blood pressure and checking the blood for breakdown products of adrenalin.

Does this sound like you or your family?
Has a VHL mutation been detected in a blood relative?
Make an appointment with Dr Hilda High at Sydney Cancer Genetics. It is a confidential opportunity to discuss your personal and family history of cancer and genetic testing can be organised, if needed.

These links may be useful

  • The VHL Alliance is based in the USA but has branches you can contact via email in Australia and has information on research studies.
  • The Cancer Genetics section of the Cancer Institute's eviQ website provides up-to-date Australian-based management guidelines as well as the lifetime risk of tumours and cancers for individuals with VHL.
  • The US National Library of Medicine website has more information about this syndrome.