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Von Hippel-Lindau (VHL) is an inherited condition that affects 1/36,000 people in the United States (~7,000 people). VHL involves the overgrowth of blood vessels (angioma formation) in different parts of the body. Blood vessels normally grow many branches, similar in shape to trees. People with VHL, however, have blood vessels that form little knots of capillaries called angiomas. The most common places in the body for angiomas to occur are in the inside part of the eyes (retina), the back part of the brain (the cerebellum), the kidneys, the pancreas, and the adrenal glands. These overgrowths, depending upon where they occur, can cause headaches, problems with walking, and blindness. Individuals with VHL are also at an increased risk for cancer including an increased risk for adrenal tumors (called pheochromocytomas) and renal cell carcinoma (kidney cancer). Pheochromocytomas can cause many different symptoms including high blood pressure, sweating, anxiety, fast heart beat, redness in the face, frequent urination, and high blood sugar.

WHAT CAUSES VHL?

VHL is caused by a mutation in the VHL gene located on chromosome #3. This mutation is present in every cell of the body. A mutation in one VHL gene is not enough to cause the formation of a tumor. It is not until a second mutation (in the VHL gene on the other #3 chromosome) occurs that the individual will develop a tumor. The second gene mutation can occur in any cell of the body and is random. This is why there is variable expressivity in the age of onset and presentation in individuals with VHL.

HOW IS VHL INHERITED?

VHL is inherited in a pattern called autosomal dominant. This means that a parent who carries a mutation in the VHL gene has a 50% chance of passing the mutation on to each of their children. Approximately 80% of VHL cases are inherited from a parent, while 20% are de novo (new) mutations. If a person carries an inherited mutation, their siblings have a 50% chance to carry the same mutation. If a person carries a de novo mutation, their siblings have a very low change to have VHL. It is important to note that the VHL gene is located on a numbered chromosome rather than a sex chromosome. This means that both males and females have an equal chance of carrying and transmitting VHL gene mutations.

GENETIC TESTING

Genetic testing of the VHL gene detects mutations in nearly 100% of patients who meet the strict clinical criteria for VHL. Such testing is clinically available and is indicated in all cases of suspected or known VHL syndrome for confirmation of the diagnosis and to assist with genetic counseling.

Several laboratories currently offer this testing. The cost of testing is approximately $600-$800. Results of this testing take approximately four weeks and may or may not be covered by one's insurance. If testing reveals a mutation, other family members can be offered testing for VHL.

MANAGEMENT FOR VHL


Close surveillance of relatives with a VHL gene mutation is recommended to allow detection of symptoms in an early stage, to allow timely intervention, and improved outcome. Individuals with a known VHL mutation or syndrome, and at-risk relatives who have not undergone DNA-based testing, need regular clinical monitoring by a physician or medical team familiar with the clinical spectrum of VHL including:

a) Ophthalmology screening as early as possible, preferably by age 5 years.

b) Annual blood pressure monitoring and measurement of urinary catecholamine metabolites beginning at age 5 in families with a high incidence of pheochromocytoma.

c) Annual abdominal ultrasound examination beginning at age 16. Suspicious lesions of the kidney, adrenal or pancreas can be evaluated by more sophisticated techniques such as CT or MRI.

d) Sometimes a baseline MRI of the brain or spine is recommended in young adult life but the likelihood of finding a cerebellar or spinal lesion is low if the person has no symptoms.

Henry Ford Hospital is a clinical care center for VHL and has been approved by the von Hippel-Lindau Family Alliance as a designated center where all of the specialized care needed for VHL patients is available.

RESOURCES AND SUPPORT GROUPS

VHL Family Alliance
171 Clinton Avenue
Brookline, MA 02455-5815
Phone: 1-800-767-4VHL
E-mail: info@vhl.org
Web: www.vhl.org
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