BASIC FACTS ABOUT VHL

What is VHL?

Von Hippel-Lindau (VHL) is a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels. It is caused by a flaw in one gene, the VHL gene, on the short arm of chromosome 3, which regulates cell growth. [more medical details]

Please Join Us at our Meetings this Year and Next - You are important to us and to everyone suffering from VHL. Your membership or donation for research and education is vital to finding a cure.

An Easy Way to Help - if you publish a story which refers to VHL, we would appreciate it if you would mention "for more information about VHL, please contact 1-800-767-4VHL" in the U.S. and Canada, or our E-mail account info@vhl.org anywhere in the world, and this website www.vhl.org. Your efforts in bringing awareness of our cause to others can save lives. Thank you!

VHL...Not so Rare After All! Historically thought to be very rare, new research indicates that von Hippel-Lindau Syndrome (VHL) is not so rare after all. Thousands of people may be suffering from this syndrome without knowing it. [more]

A Few More Facts

• VHL occurs in every ethnic group, everywhere in the world. It is one of those things that happens sometimes in the course of copying the parents' genes to make a baby. Dr. Eamonn Maher of Birmingham, England, estimates that a "new mutation," where no VHL has been in the family previously, occurs about once in 4,400,000 live births, which is about 1/6 your chance of having quadruplets.

 

• Over all, 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. Most people with VHL will begin having clinically significant issues in their teens or twenties. About 10% of children can be seen to have eye or adrenal problems before age 10, and a growing number of people are now known to have no clinical problems until their 80's.

 

• Many of us have chosen to have children, many have chosen not to. Having babies is an intensely personal decision, even when there are no medical impediments to deal with. We feel strongly that the choice whether or not to have a child is up to the couple in question, and that nobody else gets a vote. We provide information; the couples makes their own choice. [articles about childbearing choices]

 

• 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.

 

• There still is no cure for VHL. According to one estimate, the cure will come about the year 2025, and it will come as a result of genetic study. Meanwhile, we are working for better management for VHL. There is no cure for diabetes either, but there is much better management today than there was in the 1930's. If we had a medication (like insulin) and nutritional guidelines, we would be much better off. But today we don't have either. We can only assume that the nutritional guidelines for cancer prevention and for strengthening the immune system will be helpful, and anything which spurs tumor growth will be bad.

 

• We are hopeful at the advances being made by researchers, and wary of the dangers inherent in misuse of genetic information. Many of us have spoken out at meetings on the ethical, legal, and social implications of the Human Genome project, looking for a balance in the new laws being formed, that will protect citizens from violations of their privacy and their civil rights, but that will not unduly constrain genetic research. We need those protections from discrimination in insurance and employment, and we also need the genetic research to move forward. While we need certain protections, we also need that DNA information to be available to our health care professionals in order for them to serve us best. For example, if a person with VHL arrived in an emergency room unconscious, having information that this person carries the altered VHL gene would potentially save his or her life. Without that information, it would take a great deal longer to achieve a diagnosis of what was happening.

 

• While DNA information is not a prediction, it does help you calculate the odds of certain things happening to you. Jane, who has the altered VHL gene, is more likely to get a brain tumor than Fran, who does not. But that does not mean that Jane will definitely get a brain tumor — and it does not mean that Fran will not. It only shifts the odds, and as we know from horse racing or other gambling odds, there is no sure thing.

 

• We are here to share information, to help individuals learn to maintain their own health, to manage the stress of living with a lifetime concern, and with chronic illness in yourself or your family. We are here to support one another through whatever comes, and to keep our spirits strong.

If there is anything else you need, please call or write.