Von Hippel-Lindau disease
Other Names for this Disease
- VHL syndrome
- Von Hippel-Lindau disease
- Von Hippel-Lindau syndrome
What are the signs and symptoms of Von Hippel-Lindau (VHL) disease?
What causes Von Hippel-Lindau disease?
Is Von Hippel-Lindau (VHL) disease inherited?
How is Von Hippel-Lindau (VHL) disease diagnosed?
How might Von Hippel-Lindau (VHL) disease be treated?
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.
Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with VHL disease inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.
Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in VHL disease. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of VHL disease.
You can access more detailed information about the treatment of VHL disease at the following web pages:
- Schimke RN, Collins DL, and Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews Web site. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed 2/9/2009.
- Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.
- Von Hippel-Lindau Disease. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/vonhippellindaudisease.html. Accessed 3/18/2011.
- NINDS Von Hippel-Lindau Disease (VHL) Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm. Accessed 2/9/2009.