What is von Hippel-Lindau syndrome?

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Von Hippel-Lindau syndrome (von Hippel-Lindau disease) is a rare condition that affects about 1 in 69,000 people in the UK. It is due to a faulty gene; in about 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. About 24-45% of people with von Hippel-Lindau syndrome develop kidney cancer.

More information on von Hippel-Lindau syndrome can be found on the VHL Alliance website.

National Cancer Institute: von Hippel-Lindau disease

British Journal of Cancer: Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Updated: October 2023                                                                                                                      Next review: October 2025

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