Von hippel-lindau syndrome

Overview

What is von Hippel-Lindau syndrome?

Von Hippel-Lindau (VHL) syndrome is a rare inherited disorder caused by changes (alterations) in a gene called VHL. In VHL, benign (non-cancerous) tumors, cancerous tumors, and cysts develop in different parts of the body. These may include:

  • Hemangioblastomas: tumors are made up of newly-formed blood vessels. The tumors are non-cancerous, but can cause serious problems depending on where in the body they are located, which often includes the brain, spinal cord or eyes.
  • Renal (kidney) cysts: sacs of fluid that form in the kidneys
  • Clear Cell Renal cell carcinomas: a type of kidney cancer
  • Pheochromocytomas: a tumor of the adrenal gland that often causes high blood pressure.
  • Pancreatic cysts: sacs of fluid that form in the pancreas
  • Neuroendocrine tumors: cancer of the neuroendocrine cells
  • Endolymphatic sac tumors: rare tumors of the petrous temporal bone found at the base of the skull
  • Epididymal cysts: sacs of fluid that form in the epididymis (tightly coiled tube in men where the sperm matures).
  • Broad ligament cysts: sacs of fluid that form in the female pelvis

The symptoms of VHL usually become apparent during young adulthood. VHL can be very different in one person when compared to another, even among members of the same family.

References
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Are there other names for VHL?

How common is von Hippel-Lindau syndrome?

What's the usual abbreviation for Von Hippel Lindau?

What type of syndrome is Von Hippel Lindau?

Are there other names for VHL?

In the past, there were several different names doctors used for von Hippel-Lindau syndrome including:

  • Familial cerebelloretinal angiomatosis
  • Lindau disease
  • VHL
  • VHL syndrome
  • Von Hippel-Lindau disease
  • Angiophakomatosis retinae et cerebelli,
  • Cerebelloretinal hemangioblastomatosis
  • Hippel disease
  • Hippel-Lindau syndrome
  • Lindau disease
  • Retinocerebellar angiomatosis
References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892
How common is von Hippel-Lindau syndrome?

Von Hippel-Lindau syndrome has an estimated incidence of one in 36,000 live births. It is a panethnic genetic condition found in individuals around the world. Population studies have identified at least one population with an increased incidence of VHL in the Black Forest region of Germany where a VHL missense mutation (T505C) is found possibly due to a founder effect.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
  • Brauch H, Kishida T, Glavac D, et al. von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet. 1995;95:551-556. https://www.ncbi.nlm.nih.gov/pubmed/7759077
What's the usual abbreviation for Von Hippel Lindau?

Von Hippel Lindau Syndrome is abbreviated as VHL.

References
  • Accessed on October 20, 2019: Genetics Home Reference (https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome#synonyms)
What type of syndrome is Von Hippel Lindau?

Von Hippel Lindau is considered a cancer predisposition syndrome in that having a disease causing change (pathogenic variant) in the VHL gene increases the risk to develop specific tumors or cancers. Having said, this most people who have a pathogenic variant in the VHL gene have symptoms of the conditions by age 65 years.

References
  • Accessed on October 20, 2019: Genetics Home Reference (https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome#definition)

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