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Genetic and Rare Diseases Information Center (GARD)

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Von Hippel-Lindau disease


Other Names for this Disease

  • VHL
  • VHL syndrome
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Please send me information on Von Hippel Lindau disease. I have high blood pressure, severe headaches, dizziness, and quick to anger.  After reading information on the Internet, I believe my symptoms might be explainded by VHL disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Von Hippel-Lindau (VHL) disease?

Von Hippel-Lindau (VHL) disease is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The specific tumors that are associated with VHL disease include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac).[1][2] Mutations in the VHL gene cause VHL disease. These mutations are  inherited in an autosomal dominant pattern.[2] Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.[3]
Last updated: 5/20/2013

What are the signs and symptoms of Von Hippel-Lindau (VHL) disease?

Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors.[3][4] Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.[1][2] Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer.[4] Renal cell carcinoma occurs in about 40% of individuals with VHL disease and is the leading cause of mortality.[1]

Last updated: 5/20/2013

What causes Von Hippel-Lindau disease?

VHL disease is caused by a mutation (alteration) in the VHL gene.[2] 

The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way.  Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein.   An altered or missing VHL protein cannot effectively regulate cell survival and division.  As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of VHL disease.[1][2]
Last updated: 5/20/2013

How is Von Hippel-Lindau (VHL) disease diagnosed?

The diagnosis of Von Hippel-Lindau (VHL) disease is suspected in individuals with characteristic lesions with hemangioblastomas, renal cysts, and renal cell carcinoma, pheochromocytoma, and endolymphatic sac tumors.  VHL is the only gene known to be associated with VHL disease.  Molecular genetic testing of the VHL gene detects mutations in nearly 100% of individuals with the disease.  Such testing is clinically available.[1]
Last updated: 5/20/2013

What laboratories are offering molecular genetic testing for Von Hippel-Lindau disease?

GeneTests.org  lists the names of clinical laboratories that are performing genetic testing for VHL disease. To view the contact information for the clinical laboratories, conducting testing on VHL syndrome click on GeneTests.org.  Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider.
Last updated: 5/20/2013

I have a number of symptoms, could I have Von Hippel-Lindau disease?

Diagnoses and recommendations for medical management cannot be given over the Internet; only your personal health care provider can help you make these determinations. However, if you suspect that you may have VHL disease, we recommend that you speak with your health care provider about your concerns. Additionally, because VHL disease is a genetic condition, you may want to meet with a genetics professional for a genetics consultation. Such a professional can review your medical and family history to determine whether it is indicative of VHL disease, order appropriate testing to confirm a diagnosis, and more. To view a list of online resources that can assist you in locating a genetics professional near you, please visit the Genetic Services section.
Last updated: 7/2/2013

References
Other Names for this Disease
  • VHL
  • VHL syndrome
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.