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Diseases

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
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Symptoms


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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.[1][2] 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.[3][4] Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer.[2] Renal cell carcinoma occurs in about 40% of individuals with VHL disease and is the leading cause of mortality.[3]

Last updated: 5/20/2013

References
  1. Von Hippel-Lindau Disease. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/vonhippellindaudisease.html. Accessed 3/18/2011.
  2. 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.
  3. 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.
  4. Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.