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.