Von Hippel-Lindau Disease

2007-08-10T14:45:00.000-07:00

Von Hippel-Lindau Disease

Synonym(s): Angiomatosis

What is Von Hippel-Lindau Disease (VHL)?
von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Is there any treatment?
Treatment for VHL varies according to the location and size of the tumor and its associated cyst. In general, the objective of treatment is to treat the growths when they are causing symptoms but while they are still small so that they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.

What is the prognosis?
The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.

What research is being done?
The NINDS pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL.
Select this link to view a list of studies currently seeking patients.

Organizations
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
info@geneticalliance.org http://www.geneticalliance.org/
Tel: 202-966-5557
800 336-GENE (4363)
Fax: 202-966-8553

National Organization for Rare Disorders (NORD)
P.O. Box 1968(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org http://www.rarediseases.org/
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Von Hippel Lindau Family Alliance
2001 Beacon Street
Suite 208
Boston, MA 02135-7877
info@vhl.org http://www.vhl.org/
Tel: 617-277-5667
800-767-4VHL (4845)
Fax: 858-712-8712

IRSA (International RadioSurgery Association)
3005 Hoffman Street
Harrisburg, PA 17110
office@irsa.org http://www.irsa.org/
Tel: 717-260-9808
Fax: 717-260-9809

Prepared by:Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated June 01, 2007