Von-Hippel-Lindau syndrome (von-Hippel-Lindau disease) is a rare condition that affects about 1 in 40,000 people in the UK.

It is due to a faulty gene. In 4 out of 5 cases the gene is inherited from one or other parent, but in 1 in 5 people with von-Hippel-Lindau syndrome it occurs as a result of a new gene change (mutation), with no family history.

The condition leads to changes in the way some blood vessels are formed, and this causes tumours of blood vessels (called haemangioblastomas) in certain parts of the body. The places most often affected are the brain (particularly a part of the brain called the cerebellum), the spinal cord, and the retina (the lining of the back of the eye). These tumours are non-cancerous (benign), but sometimes can be quite serious because of where they develop.

Von-Hippel-Lindau syndrome can also cause cysts to develop in the kidney and pancreas, and carries an increased risk of developing cancer of the kidney, and a non-cancerous tumour of the adrenal glands, called a phaeochromocytoma.

Symptoms of von-Hippel-Lindau syndrome usually first begin to appear between the ages of 10 and 30. The symptoms vary, depending on which part, or parts, of the body are affected.

The treatment also depends on where tumours develop. Whenever possible, surgery is done to remove the tumours . If tumours appear in very sensitive parts of the brain then radiotherapy may be an alternative to surgery, and tumours on the retina may be treated by laser therapy.

If someone has von-Hippel-Lindau syndrome close members of their family will usually be offered genetic testing to see of they also have the faulty VHL gene. Overall 4 out 5 people with the condition will have a parent who carries the gene, and the chance of any of their children getting it is 50:50.

Children who are found to have the faulty VHL gene will usually be offered careful follow-up, with regular physical examinations, and occasional scans, to check for the development of any tumours.