July 30, 2004

Vanderbilt one of few to treat patients with rare genetic disease

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Selvi Palaniappan will serve as the primary contact for patients suffering from Von-Hippel-Lindau. Photo by Anne Rayner

Vanderbilt one of few to treat patients with rare genetic disease

The Von Hippel-Lindau (VHL) Family Alliance has designated Vanderbilt as one of only 18 clinical care centers in the United States — and one of only three in the Southeast — for referrals of patients and families with this rare genetic disease.

Occurring in about one in 40,000 people, VHL involves the abnormal development of blood vessels and can lead to knotty growths called angiomas, cysts and tumors in a variety of organs throughout the body. Commonly affected organs include the eyes, brain and spinal cord, kidneys, pancreas, and adrenal glands.

Because the manifestations of the disease are so varied, designated centers are required to have a single point of entry for patients and to ensure coordination with the multitude of specialists who may be involved in their care.

At Vanderbilt, VHL referrals will be coordinated through the Vanderbilt-Ingram Cancer Center’s Family Cancer Risk Service, located in the Village at Vanderbilt and directed by nurse practitioner Susan W. Caro.

The service’s genetic counselor, Selvi Palaniappan, worked with VHL patients in her previous position at Emory University and will serve as the primary contact at Vanderbilt for these patients. She recognized the need for a designated center here and pursued designation by the alliance.

“When patients come to us, their initial conversation will be with someone who knows about VHL and who can help them see all the specialists that they need to see, so they don’t get lost in the system,” said Palaniappan, assistant in Genetic Medicine.

Most VHL patients will be seen annually. These visits will include imaging, including magnetic resonance imaging and abdominal CT scanning, to look for and follow angiomas, cysts and tumors, Palaniappan said.

Because of the risks of serious adrenal gland problems and cancer, patients will see endocrinologist Lewis Blevins, M.D., professor of Medicine, and an oncologist each year. Kidney cancer specialist Jeff Sosman, M.D., professor of Medicine, will see adult VHL patients, while James Whitlock, M.D., Craig-Weaver Associate Professor of Pediatrics and director of Pediatric Oncology, will see children with the disease.

Annual visits with other specialists will be determined by which organs are affected and what problems any VHL-related growths are causing, Palaniappan said. “The symptoms of the disease are different in every patient.”

The disease gets its name from the two physicians who first described its features. Eugen von Hippel, a German ophthalmologist, described angiomas in the eye around the turn of the 20th century; Arvid Lindau, a Swedish pathologist, described angiomas of the brain and spine in 1926 and went on to compile all the published reports, including those of von Hippel, and to describe changes in different abdominal organs.

It is caused by abnormalities in the VHL gene, whose normal function is as a “tumor suppressor gene” to put the brakes on abnormal cell growth. In most cases, patients inherit an abnormal copy of this gene from a parent, according to alliance literature. In rarer cases, a patient will be the first in a family to have an alteration in this gene but can then pass the abnormal gene to his or her children.

More than 150 different alterations, or mutations, have been identified in VHL. Genetic testing is available to identify many of these mutations.

In addition to coordinating medical care, Caro and Palaniappan will provide counseling and guidance about genetic testing, as well as resources for psychosocial needs.

The only other designated VHL clinical care centers in the United States are at Duke and Wake Forest universities in North Carolina. More information about VHL and the alliance’s clinical care program is available at www.vhl.org.

The Family Cancer Risk Service can be reached at 343-0738 or toll-free at (877)688-7555.