BROOKLINE, Mass., April 26, 2004 (PRIMEZONE) -- This May, VHL Family Alliance (VHLFA), an international organization of families, friends, physicians, and researchers, dedicated to improving the diagnosis, treatment, and quality of life for individuals and families affected by Von Hippel-Lindau disease, kicks off "Early Detection Empowers Us" with the goal of advocating the early detection of VHL tumors.
Though most of the public has never even heard of Von Hippel-Lindau (VHL) disease, VHL is more common than we all think. VHL occurs in every ethnic group, everywhere in the world, knowing no barriers. It occurs in every nation, every race and every culture around the world. VHL is a genetic condition involving the abnormal growth of blood vessels in some parts of the body that are particularly rich in blood vessels. Overall, about one person in 32,000 in the world has VHL. About 20% are new mutations, and 80% are children of parents who themselves had VHL.
"For those with VHL or any challenging disease, unless they have the full picture, they can't protect themselves," said Joyce Graff, Executive Director of the VHL Family Alliance. "They need to know the nature of the enemy that they are facing. We in the VHL Family Alliance want to give people a map, turn on the lights and help them learn how to manage their health."
In 1982, when Cari Enderle of Huron, OH was 7 years old, her mother died of what was simply diagnosed as a brain tumor. Doctors had no idea that the tumor could be genetically connected or that the tumor was a VHL tumor. Then in 2001, after enjoying years of excellent health, Cari's blood pressure suddenly began to spike repeatedly following the arrival of her first daughter. Her doctors soon discovered that she had a brain tumor. This however was not the cause of the erratic blood pressure. A month later the cause was found. A large tumor, medically referred to as a pheochromocytoma, had been growing in her abdomen. Both tumors were soon extracted in two different operations.
A typical characteristic of VHL is that additional tumors are possible in the future. Today at age 29, Cari is vigilant about receiving yearly MRI screenings, CT scans and an eye exam every six months. "Early detection is key," says Cari. "And once you are diagnosed it is your responsibility as a patient to go for yearly screenings, to always communicate with your doctors and to stay infomed."
Dr. Graeme Eisenhofer, PhD, Staff Scientist and Director of the Clinical Neurochemistry Laboratory, National Institutes of Neurological Disorders and Stroke at NIH, has worked with VHL patients firsthand. "Pheochromocytomas are treacherous tumors that can cause dangerous increases in blood pressure and cardiovascular complications due to the release of certain chemicals. The tumors can be particularly dangerous during pregnancy, where if not diagnosed there is a high risk of maternal and fetal mortality," said Dr. Eisenhofer. "The tumors are more common in certain hereditary syndromes, such as VHL, where routine biochemical screening for the tumor at yearly intervals is recommended. When diagnosed during pregnancy appropriate precautions can be taken to minimize the risk of maternal and fetal mortality. Happily, today's biochemical tests are highly sensitive, so as long as appropriate testing is done, these tumors should not be missed."
The VHL Family Alliance includes a network of over 27 chapters in the United States as well as affiliate members in 14 countries around the world. Evidence has shown that with better diagnostic techniques, imaging scans (CT and MRI) to watch for tumors before they become a serious problem, and better and better treatments for dealing with tumors, the outlook for people with VHL is better each year. Currently, there is no cure for VHL. The cure is probably 30 years away, and will require a great deal of work in genetics and in drug development. Meanwhile, the VHL Family Alliance is working for better management for VHL, for protection from discrimination in insurance and employment, and to encourage those in genetic research to move forward.
The VHL Family Alliance is, an international organization of families, friends, physicians, and researchers dedicated to improving the diagnosis, treatment, and quality of life for individuals and families affected by Von Hippel-Lindau disease. The VHL Family Alliance provides information for families and physicians about this disorder, and local self-help support groups for families affected with VHL. Local family support chapters exist in regions of the U.S. Local chapter meetings are scheduled periodically. International VHL Support Organizations are established on five continents. The VHL Family Alliance works with more than 14,000 affected people in 72 countries, with highest growth currently in Spanish-speaking countries. For more information call 1-800-767-4VHL, or go to www.vhlg.org.
(EDITOR'S NOTE: TO SCHEDULE AN INTERVIEW WITH A VHL SPOKESPERSON, OR FOR COVERAGE OF INDIVIDUAL CASE STUDIES IN YOUR AREA, PLEASE CONTACT VICTORIA MECHLIN AT (949) 702-3411 or via email at vmechlin@goingglobalcommunications.com)