Understanding VHL and the Tumor-Suppressor Gene

"It stated with the headaches," my father said. Then, when he tried to focus on reading, the words all blurred together. Reading was one of my father's favorite pastimes, and suddenly he couldn't do it anymore. Sometimes, he said, it felt like his heart was beating in his eye socket.

A month earlier, he had fallen down while walking the dog. He said he had felt dizzy. The doctor said the vertigo was due to an inner ear problem that had messed with his equilibrium. When other symptoms began occurring, we knew something was terribly wrong. After a series of tests - including CAT scans and MRIs, they found a tumor on one of my father's kidneys. They promptly scheduled him for surgery to remove it. Eventually, he was diagnosed with Von Hippel Lindau (VHL), a disorder that none of us had ever heard about.

Von Hippel Lindau (VHL) is a chronic disorder that allows abnormal growth of blood vessels in various parts of the body. These growth s are typically called angiomas or hemangioblastomas - little knots of capillaries. These "knots" are usually found in the eyes (retina), kidneys, and brain, but the spinal cord, pancreas, and adrenal glands can also be affected. Some tumors are benign, but others can become cancerous.

VHL is a rare disorder ( affecting about 1 in 36,000), but people with VHL come from every corner of the globe and every ethnic group. The gene that causes VHL is found on the short arm of chromosome three, which is known as the "tumor suppressor gene." The function of that gene is to stop abnormal cells from replicating themselves and growing uncontrollably. However, if this gene is defective or mutated (as with VHL) tumor growth and the likelihood of cancer is much higher than the average person.

VHL is also inherited. About 80% of those with VHL inherited the disorder from a parent.

When my father was diagnosed, I was fourteen. My younger brother and I underwent several tests to determine if we, too, had inherited the disorder. My brother had no evidence of the disease, but for me, it was a different story. The urologist cleared me, but the ophthalmologist found lesions in my eyes. I was devastated; I envied my healthy brother.

There is a wide range in the age of onset of VHL - my father was well into his fifties before he knew he had it, while I was barely a teenager. The opthalmologist quickly took care of the lesions (angiomas) in my eyes through laser surgery, but I erroneously thought the whole VHL diagnosis meant I was doomed to eventually get cancer. Now that I'm older, I realize that I'm not doomed just because I have VHL. Fifty-percent of those with VHL are affected in one area only and the severity of the disorder varies tremendously from person to person.

Although there is no cure, I've learned that it's a manageable disorder. VHL is something that has to be monitored and treated, when necessary. Treatment options including laser surgery, radiation, and cryotherapy ( freezing ) are constantly improving and research is continually progressing.

I also know that regardless of whether I have VHL, somewhere between 35-60% of all cancers are due to diet. For myself, and others with VHL, maintaining a healthy diet is especially important and relatively easy to control. I try to eat a variety of fruits and vegetables to make sure that I am getting all the antioxidants my body needs. Green, leafy vegetables like spinach, Swiss chard, and cruciferous vegetables like broccoli are especially good recommendations, as are spices like ginger and turmeric. Soy isoflavones have been shown to slow vascular tumors in the eyes ( the area where my VHL has manifested itself.) The antioxidants in green tea and the Omega-3 fatty acids found in walnuts and flaxseed are also known to decrease the odds of cancer.

If you or a loved one are experiencing symptoms like headaches, dizziness, and problems with walking or vision, there is always a possibility that VHL may be the cause. Because it is rare, some physicians might not think to suggest it as a possible diagnosis.

If you want to help someone with VHL or contribute to the fund for future research, the VHL FAMILY ALLIANCE allows you to do so in small ways. Send them your used printer cartridges by printing a postage-paid label off their website at http://www.vhl.org Even easier, go to http://www.goodsearch.com and choose VHL as your charity of choice. Then, when you do an internet search through Good Search, the proceeds go toward VHL.

For more information about Von Hippel Lindau, please contact the following organizations:

VHL FAMILY ALLIANCE
http://www.vhl.org
1-800-767-4VHL

NATIONAL ORGANIZATION FOR RARE DISORDERS ( NORD)
http://www.rarediseases.org

NATIONAL EYE INSTITUTE
http://www.nei.nih.gov/