The VHL gene hijacks the major feeding pipeline of every tumor. Curing VHL is one step closer to curing other forms of cancer!
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.
VHL is one of more than 7000 known inherited disorders. Tumors will develop in one or more parts of the body. Many of these tumors involve the abnormal growth of blood vessels in different organs of the body.
While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord, or retina. These little knots are called angiomas, or hemangioblastomas. In other parts of the body the tumors of VHL are called by other names. These tumors themselves may cause problems, or problems may develop around them.
VHL is different in every patient. Even in the same family, people may show only one or several features of VHL. Since it is impossible to predict exactly which one or more manifestations of VHL each person will have, it is important to continue to check for all the possibilities throughout a person’s lifetime.
VHL…Not So Rare After All! Historically thought to be very rare. Thousands of people may be suffering from this syndrome without knowing it.
- The prevalence of VHL is approximately 1/2 that of cystic fibrosis.
- 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.
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.
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.
Just like diabetes, 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. With careful monitoring, early detection, and appropriate treatment, the most harmful consequences of this gene can be greatly reduced, or in some cases even prevented entirely.