von Hippel-Lindau Disease
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Links
Clinical Neurogenetics
This Clinical Neurogenetics Web page from the Department of Neurosurgery provides links to information on neurogenetic diseases including neurofibromatosis and von Hippel-Lindau disease.
VHL Family Alliance
The VHL Family Alliance homepage offers basic information about von Hippel-Lindau Disease, as well as a newsletter, support groups, information for professionals and links to other related sites.
National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke offers a patient guide to disorders that are listed on this Web page alphabetically under the heading of publications. Information on neurofibromatosis and von Hippel-Lindau Disease is available in the alphabetical directory. This Web site also has information for professionals.
National Organization for Rare Diseases Inc.
The National Organization for Rare Diseases Inc. offers information on the definition, prevention, treatment and cure of more than 1,000 rare diseases. |
Definition
Von Hippel-Lindau (VHL) disease is a rare, genetic disorder characterized by the abnormal growth of tumors.
The tumors of the central nervous system, which are benign, are made up of a nest of blood vessels or hemangioblastomas that can develop in the brain, the retina of the eyes and other areas, such as the adrenal glands, the kidneys or the pancreas.
Cysts and/or tumors (benign or cancerous) can develop around the angiomas. People with this condition have a higher risk for certain cancers, especially kidney cancer.
The disease shows itself differently in every patient.
Symptoms
Besides the various tumors that develop, symptoms can include headaches, imbalance, dizziness, weakness of the limbs, vision programs and high-blood pressure. Those symptoms are usually caused by the growing cysts or tumors putting pressure on the central nervous system.
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Diagnosis
Diagnosis of VHL may involve testing neurological functions, as well as scans such as magnetic resonance imaging (MRI) to locate the growths. In addition, DNA testing can determine if the VHL gene is present.
Treatment
Treatment is aimed at controlling the growths before they cause permanent problems by putting pressure on the brain or spine.
In many cases, the treatment would include removing tumors or using radiation to reduce or eliminate them.
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Research
The National Institute of Neurological Disorders and Strokes research teams have worked on identifying the NF and VHL genes and their makeup, sequences and patterns.
Other research is also aimed at improving methods of diagnosing the condition and identifying the factors that contribute to the variations of symptoms and severity.
WFUBMC Approach
The Medical Center offers a multidisciplinary approach to diagnosis, treatment and research on these disorders.
The Medical Center is a VHL Family Alliance designated Clinical Care Center. The goals of the alliance and these centers is to improve diagnosis and treatment of VHL, to provide coordination of care across medical specialties, to provide resource centers for patients and physicians who are new to VHL and to provide a ready channel for communicating advances to these centers of expertise..
The Medical Center is involved in neurofibromatosis research on methods to non-invasively treat the brain tumors and to preserve hearing using advanced stereotactic radiosurgery and other techniques.
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