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by Kassir K

Von Hippel-Lindau Disease

(VHL)

Definition

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.

Causes

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.

Risk Factors

Your risk of VHL is higher if you have other people in your family who have it.

Symptoms

Symptoms differ in each person. It can start at any age, in different organs, and can cause mild to severe problems.
You may have:
  • Vision problems
  • Headaches
  • A feeling of spinning when you are not moving
  • Problems walking
  • Problems swallowing
  • Weakness
Blood Vessels in the Retina of the Eye
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Copyright © Nucleus Medical Media, Inc.

Diagnosis

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:
  • Blood tests
  • Urine tests
Pictures may be taken of your bodily structures. This can be done with:

Treatment

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.

Prevention

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.

RESOURCES

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov
VHL Alliance
http://www.vhl.org

CANADIAN RESOURCES

Canadian Cardiovascular Society
http://www.ccs.ca
Heart and Stroke Foundation of Canada
http://www.heartandstroke.com

References

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.

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