Von Hippel-Lindau disease (VHL) is a rare disorder in which some blood vessels grow in an unusual way. This causes tumors in parts of the body that have many blood vessels.
VHL is caused by an abnormal change in a gene. Blood vessels grow in a small knot instead of in branches. The knot forms a growth or tumor, often in the eye and brain. VHL is also linked to other tumors and cysts throughout the body.
Your risk of VHL is higher if you have other people in your family who have it.
Symptoms differ in each person. It can start at any age, in different organs, and can cause mild to severe problems.
You may have:
You will be asked about your symptoms and health history. A physical exam will be done. You may also have hearing and vision tests.
A blood test that looks at your DNA may be done. This can find out if you have the VHL gene.
You may have:
Pictures may be taken of your bodily structures. This can be done with:
There is no known cure for VHL. Treatment depends on your symptoms, test results, and health. When treatment is needed, it usually involves surgery to remove tumors. They are usually only removed if they are cancerous or causing other problems. If tumors are not removed, they must be watched for further growth.
There is no known way to prevent the VHL gene. Genetic counseling is advised for families with known VHL or who test positive for the gene.
National Institute of Neurological Disorders and Stroke
Canadian Cardiovascular Society
Heart and Stroke Foundation of Canada
Gläsker S, Neumann HPH, Koch CA, Vortmeyer AO. Von Hippel Lindau syndrome. Available at: http://www.ncbi.nlm.nih.gov/books/NBK279124. Accessed August 5, 2013.
von Hippel-Lindau disease. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T921457/von-Hippel-Lindau-disease. Updated March 7, 2018. Accessed July 2, 2018.
Last reviewed May 2018 by Kari Kassir, MD Last Updated: 7/2/2018