Von Hippel Lindau

Summary

Von Hippel = Eugene von Hippel, the doctor who described the retinal tumors common in this condition
Lindau = Arvid Lindau, the doctor who described the association with other tumors

Von Hippel Lindau Disease (VHL) is a rare, multisystem syndrome characterized by tumors or cysts that grow in the eye, central nervous system, liver, pancreas, and/or kidneys. At The Spine Hospital at The Neurological Institute of New York, we specialize in treating spinal cord hemangioblastomas that are sometimes associated with VHL.

VHL is a genetic disorder. It results from mutations that disrupt the VHL gene, a tumor suppressor gene that normally prevents tumors from growing.

One functional copy of the VHL gene is enough to prevent tumors from growing. A person with VHL syndrome is likely to have inherited a functional copy of the gene from one parent, and a nonfunctional copy of the gene from the other parent. But when a mutation in the functional copy occurs—usually in certain cells in the brain, spine, eye, or kidney—no working copies of the gene remain in that cell. Then tumors and cysts begin to grow.

At The Spine Hospital at The Neurological Institute, we have extensive experience working with patients who have VHL. We are proud to be a part of Columbia University Medical Center / NewYork-Presbyterian Hospital, which is one of only nine institutions in the country to have been awarded the title of “Comprehensive Clinical Care Center” by the VHL alliance.

Symptoms

The spinal cord tumors common to VHL are called hemangioblastomas. Hemangioblastomas are slow-growing, benign tumors that usually arise on the surface of the spinal cord. Small hemangioblastomas may cause no symptoms at all, and may never need treatment. They can simply be followed with annual imaging scans to track their growth.

Larger hemangioblastomas, however, can cause a variety of symptoms if they compress the spinal cord. Symptoms may include numbness, abnormal sensations such as “pins and needles,” and / or weakness and clumsiness in the arms or legs. Exact symptoms depend on the tumor’s size and location.

Causes and Risk Factors

In about 80% of cases, von Hippel-Lindau is inherited. It is inherited in an autosomal dominant pattern, which means that an affected parent has a 50% chance of passing the affected gene along to each of his or her offspring. The offspring who inherit an affected copy of the gene will eventually develop the cysts and tumors typical of VHL, as described above.

In the other 20% of cases, VHL is not inherited from a parent. Instead, mutation in both copies of the gene develop “de novo” (new) in the patient’s own genetic code.

Tests and Diagnosis

Diagnosis of VHL is usually made on the following criteria:

—More than one hemangioblastoma in the central nervous system, which includes the brain, spinal cord, or eye, OR

—One hemangioblastoma as above, plus tumors or cysts in the pancreas, liver, or kidneys, OR

—A family history of VHL plus any one of the tumors or cysts above, OR

—Genetic testing

Diagnosis of spinal hemangioblastoma is usually made on the basis of MR (magnetic resonance) or CT (computed tomography) scans. MR scans use magnets, radio waves, and computer technology to produce images of organs and tissues like the brain and spinal cord. CT scans use a combination of X-rays and computer technology to produce detailed images of bones and soft tissues.

Particularly for patients with VHL, any symptoms of a spinal cord tumor should be investigated promptly. These symptoms include numbness, abnormal sensations such as “pins and needles,” and/or weakness and clumsiness in the arms or legs.

Treatments

Small spinal cord hemangioblastomas do not necessarily require treatment if they do not cause symptoms. Symptomatic hemangioblastomas (those that cause symptoms), however, are candidates for prompt surgical treatment.

The treatment of choice for symptomatic spinal hemangioblastomas is microsurgery, or removal using a surgical microscope and very fine, delicate operating tools. Most tumors can be completely removed using standard microsurgical techniques, and neurological function can usually be preserved (see video). Radiation therapy may be useful if the entire tumor cannot be safely removed.

Preparing for Your Appointment

Drs. Paul C. McCormick, Michael G. Kaiser, Alfred T. OgdenChristopher E. Mandigo, Sheng-fu (Larry) LoRichard C.E. Anderson (Pediatric), and Neil A. Feldstein (Pediatric) are experts in treating the spinal hemangiomas often associated with Von Hippel-Lindau Disease. They can also offer you a second opinion.

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