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. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. 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. 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. 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. 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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=hippel-lindau+disease+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/von_hippel_lindau/pubs_von_hippel_lindau.htm /disorders/von_hippel_lindau/xml_von_hippel_lindau.xml xml_von_hippel_lindau.xml Angiomatosis V79 Genetic Alliance

4301 Connecticut Avenue, N.W.

Suite 404 Washington DC 20008-2369 info@geneticalliance.org http://www.geneticalliance.org 202-966-5557 800 336-GENE (4363) 202-966-8553 International coalition representing 600 consumer and professional organizations. Supports individuals and families with genetic conditions; educates the public; and advocates for consumer-informed public policies. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. V250 Von Hippel Lindau Family Alliance

2001 Beacon Street

Suite 208 Boston MA 02135-7877 info@vhl.org http://www.vhl.org 617-277-5667 800-767-4VHL (4845) 858-712-8712 Dedicated to improving the diagnosis, treatment, quality of life, and ultimately a cure for individuals and families affect by von Hippel-Lindau and other forms of cancer. Provides education and support through brochures, handbook, newsletters, online support groups, and 24-hour hotline. Offers competitive research. V78 International RadioSurgery Association

2960 Green Street

P.O. Box 5186 Harrisburg PA 17110 irsa@irsa.org http://www.irsa.org 717-260-9808 717-260-9809 Proactive patient organization providing information and referrals on Gamma Knife, Linac, and particle beam radiosurgery for brain tumors, arteriovenous malformations (AVMs), and neurological pain and movement disorders.