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Von Hippel-Lindau Disease
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.
The risk of this problem is higher in people who have other family members who have it.
Symptoms differ in each person. It can start at any age, in different organs, and can cause mild-to-severe problems.
Problems may be:
- Eyesight problems
- A feeling of spinning when a person is not moving
- Problems walking
- Problems swallowing
|Blood Vessels in the Retina of the Eye|
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The doctor will ask about your symptoms and health history. A physical exam will be done. Hearing and vision may also be tested.
Blood tests may be done to look for signs of the VHL gene.
Urine tests may also be done.
Pictures may be taken of the body. This can be done with:
There is no cure. The goal is to remove tumors before they grow too large and cause problems. This can be done with surgery. Radiation therapy may also be done.
National Institute of Neurological Disorders and Stroke
Canadian Cardiovascular Society
Heart and Stroke Foundation of Canada
Frantzen C, Klasson TD, et al. von Hippel-Lindau Syndrome GeneReviews 2015 Aug 6.
Gläsker S, Neumann HPH, et al. Von Hippel Lindau syndrome. Available at: http://www.ncbi.nlm.nih.gov/books/NBK279124. Accessed November 5, 2020.
von Hippel-Lindau disease. EBSCO DynaMed Plus website. Available at: https://www.dynamed.com/condition/von-hippel-lindau-disease. Accessed November 5, 2020.
- Reviewer: EBSCO Medical Review Board Kari Kassir, MD
- Review Date: 09/2020
- Update Date: 05/12/2021