Von Hippel-Lindau disease (VHL) is a rare genetic condition that causes benign hemangioblastoma tumors to grow from blood vessels, usually in the cerebellum, brain stem, spinal cord, or retinas, thereby putting pressure on critical structures and causing a variety of symptoms. Other features include tumors of the adrenal gland (pheochromocytomas), cysts in the kidneys and other organs, risk of kidney cancer, and deafness due to tumors in the inner ear. VHL most often presents in young adults, although symptoms sometimes are seen in children. The diagnosis typically is based on physical examination and tests such as MRI or CT scans, and genetic testing is available to confirm a diagnosis. Symptoms, if present, vary depending on the location of any tumors but can include headaches, flushing, palpitations, heart racing, high blood pressure, poor balance, loss of vision or visual acuity, muscle weakness, loss of sensation, lower back pain, blood in the urine, and hearing loss.
Treating VHL typically involves several medical specialties, including genetics, neurosurgery, endocrinology, urology, nephrology, and ophthalmology. Treatment often entails surgery to remove a tumor; clinical trials are underway and focused on testing new non-surgical approaches. Most VHL patients face a lifetime risk for the development of tumors and require monitoring to help ensure early detection.
UAB Medicine’s Von Hippel-Lindau (VHL) clinical treatment program is the only one in the region recognized by the VHL Alliance, a group dedicated to advancing VHL research and therapy. Treatment of this rare genetic disease encompasses several medical specialties – including neurosurgery, endocrinology, urology, and nephrology – and each of these disciplines at UAB Medicine ranked among the top 50 such programs in the country for 2014-15 according to U.S. News & World Report. UAB Medicine integrates our world-class expertise in these and other areas, including genetics, oncology and ophthalmology, to provide a truly comprehensive approach to caring for VHL patients. In addition, our Medical Genomics Laboratory performs on-site genetic testing for VHL, and we maintain active research programs devoted to many of the complications associated with the condition.
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