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Diseases

Genetic and Rare Diseases Information Center (GARD)

Von Hippel-Lindau disease


Other Names for this Disease
  • VHL syndrome
  • VHL
  • 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.

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I am looking for information about Von-Hippel Lindau syndrome, including how it might be treated.

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What is Von Hippel-Lindau (VHL) disease?

Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.[1][2]
Last updated: 2/2/2016

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.[5][6] 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 70% of individuals with VHL disease by age 60 and is the leading cause of mortality.[5]

Last updated: 6/9/2015

What causes Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.[2]
Last updated: 2/2/2016

How is von Hippel-Lindau (VHL) disease inherited?

Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease.

In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease.[2]

In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition.[2] This is called a de novo mutation.

When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
Last updated: 2/2/2016

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

The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene.

Tests that may be used to establish a clinical diagnosis include:
Last updated: 2/2/2016

How might von Hippel-Lindau (VHL) disease be treated?

Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.[7]
Last updated: 2/2/2016

References
Other Names for this Disease
  • VHL syndrome
  • VHL
  • 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.