von Hippel-Lindau syndrome

Common Name(s)

von Hippel-Lindau syndrome

von Hippel-Lindau syndrome (VHL) is a genetic disorder that causes the formation of tumors and fluid-filled sacs (cysts) in many parts of the body. These can be non-cancerous (benign) or cancerous (malignant). One type of tumor that is often seen in people with VHL is a hemangioblastoma, which is a growth that is made from newly formed blood vessels, and may cause headaches, weakness, and poor coordination. Retinal angiomas, which are tumors in the back of the eye, can also develop and may cause vision loss. Cysts can develop in the kidneys, pancreas, and in genital tract. Individuals with VHL are also at risk for a specific type of kidney cancer, called clear cell renal cell carcinoma, and a pancreatic cancer, called pancreatic neuroendocrine tumor, and a tumor in the small hormone-producing glands on top of each kidney (adrenal gland), called a pheochromocytoma. Rarely, tumors in the ear can form, which may cause hearing loss and ringing in the ears (tinnitus).

VHL is caused by changes (mutations) in the VHL gene, which is a tumor suppressor that protects the body from uncontrolled cell growth. VHL is inherited in an autosomal dominant way, which means a mutation in only one of two gene copies a person has is enough to cause VHL, but not enough to actually cause tumor or cyst formation. If a person with VHL has a mutation occur in the remaining VHL gene copy, it can cause uncontrolled cell growth, leading to formation of a cyst or tumor. VHL is usually considered in a person with multiple hemangioblastomas or cysts and is confirmed with genetic testing. There is no cure for VHL, but some tumors and cysts can be removed with surgery if they are causing major issues. Also, surveillance for tumors and cysts will be recommended. If you or your child has been diagnosed with VHL, talk to a doctor about management of the condition. Support groups are available for more information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "von Hippel-Lindau syndrome" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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VHL Alliance

VHLA is dedicated to research, education, and support to improve awareness, diagnosis, treatment, and quality of life for those affected by VHL.

Last Updated: 5 Jan 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "von Hippel-Lindau syndrome" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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VHL Alliance

VHLA is dedicated to research, education, and support to improve awareness, diagnosis, treatment, and quality of life for those affected by VHL.

http://www.vhl.org

Last Updated: 5 Jan 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "von Hippel-Lindau syndrome" returned 37 free, full-text research articles on human participants. First 3 results:

Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
 

Author(s): Meihua Wong, Ying-Hsia Chu, Hwei Ling Tan, Hideharu Bessho, Joanne Ngeow, Tiffany Tang, Min-Han Tan

Journal:

 

Von Hippel-Lindau (VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. ...

Last Updated: 31 Dec 1969

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Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
 

Author(s): Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park, Moon-Woo Seong

Journal:

 

von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adrenal gland, and pancreas. The genotype-phenotype correlation ...

Last Updated: 31 Dec 1969

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Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome.
 

Author(s): Rachel D Aufforth, Pooja Ramakant, Samira M Sadowski, Amit Mehta, Katarzyna Trebska-McGowan, Naris Nilubol, Karel Pacak, Electron Kebebew

Journal: J. Clin. Endocrinol. Metab.. 2015 Dec;100(12):4498-504.

 

Patients with von Hippel-Lindau (VHL) syndrome have a 25-30% chance of developing pheochromocytoma. Although practice guidelines recommend biochemical and radiological screening every 1-2 years for pheochromocytoma in patients with VHL, there are limited data on the optimal age and ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "von Hippel-Lindau syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Von Hippel-Lindau Syndrome.
 

Author(s): Iwona Ben-Skowronek, Sylwia Kozaczuk

Journal: Horm Res Paediatr. 2015 ;84(3):145-52.

 

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated ...

Last Updated: 31 Dec 1969

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Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):109-16.

 

Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting ...

Last Updated: 31 Dec 1969

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Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report.
 

Author(s): Noritsugu Kunihiro, Toshihiro Takami, Toru Yamagata, Naohiro Tsuyuguchi, Kenji Ohata

Journal: Neurol. Med. Chir. (Tokyo). 2011 ;51(10):732-5.

 

A 50-year-old male presented with a rare case of hemangioblastoma of cauda equina origin, without clinical signs of von Hippel-Lindau syndrome, manifesting as pain radiating from the back to the left thigh. Magnetic resonance imaging before surgery revealed an intradural spinal tumor ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
 

Status: Recruiting

Condition Summary: Von Hippel-Lindau Disease

 

Last Updated: 6 May 2017

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National Eye Institute Biorepository for Retinal Diseases
 

Status: Recruiting

Condition Summary: Age-Related Macular Degeneration; Diabetic Retinopathy; Von Hippel-Lindau Syndrome; Retinal Disease; Retinal Vein Occlusion

 

Last Updated: 22 Nov 2017

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