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New Research on Von Hippel-Lindau disease indicates it may be
more common than has been thought.
Historically thought to be very rare, new research is indicating that von Hippel-Lindau Syndrome (VHL) is not so rare after all. Thousands of people may be suffering from this syndrome without knowing it.
Tom suffered from very high blood pressure, which was not well controlled with medication. He suffered a series of three heart attacks and was being treated for advanced heart disease. Then one of his teenage sons developed high blood pressure which would "spike" up to extremely high levels. One of his pediatricians identified the cause of the high blood pressure as a tumor in the adrenal gland, one evidence of von Hippel-Lindau syndrome, or VHL, a genetic condition.
Tom and five of his six children had VHL. Tom's heart had already been damaged, but by removing his son's faulty adrenal gland, doctors saved the boy from heart damage.
Bert was operated on in his twenties for a brain tumor, which doctors felt was a random occurrence. Six years later he began to experience back pain, and was being treated for a "slipped disk". By the time doctors realized it was VHL, the spinal tumor had ruptured, leaving Bert a paraplegic. Now that they know what they are dealing with, his two daughters, who also have VHL, have the opportunity for early treatment.
Susan had VHL tumors in the eye which were being controlled very successfully. She was experiencing headaches, and attributed them to working too hard. The doctor at the college health service assured her that once she finished her dissertation, she would feel much better -- implying that it was only stress.
Her headaches turned into a crisis -- a brain tumor, related to VHL. Her doctors had not told her that VHL might occur in other parts of her body, or what symptoms to watch out for.
At the risk of over-simplification, VHL is a genetic defect that sometimes causes capillary growth to go out of control. While the tiniest blood vessels, or capillaries, usually branch gracefully like trees, in VHL patients a little knot of extra capillaries forms a growth, or tumor. Because VHL has historically been described as a very rare disorder, few doctors come into contact with a VHL patient, and may not consider this diagnosis.
Recent genetic research on this disorder is showing that the disorder is more common than previously thought. "It is not that it is so very rare," says Dr. Eamonn R. Maher of the Cambridge University Centre for Medical Genetics in England, "it is that it is under-diagnosed." The diagnosis can be straightforward if people are familiar with VHL.
Instead of being extremely rare, he and other researchers now believe it is in the mid-range of genetic disorders, one of the most common of the familial cancers.
Why so difficult to diagnose? Not all tests outline the vascular structure. These little knots cannot be seen on regular X-ray examinations. A tumor in the spine may cause pain in the legs, far from the site of the tumor.
They are most easily seen in the eye, where the ophthalmologist can see the vascular structure with high-powered magnifying lenses. In other parts of the body, you have to use sophisticated techniques such as Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) to see a VHL tumor.
The importance of knowing that you are dealing with this complicated genetic syndrome cannot be overestimated. Tumors of the kidney, for example, may not show any symptoms at all until the problem is very serious. With early detection, however, the outlook is much better.
If you have one or more of the following problems (particularly if you became affected at a young age), or if there are members of your family with two of these, you should discuss with your doctor the possibility of being screened for VHL: disturbance of vision, unexplained difficulty in walking, very high or spiking high blood pressure, tumors of the eye, brain, spine, kidney, pancreas, adrenal glad, scrotum, or unexaplained pancreatic cysts.
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 California, Connecticut, Massachusetts, Maryland, Michigan, Minnesota, Missouri, New Jersey, Tennessee, and England, and more are forming.
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