Von Hippel-Lindau syndrome
Dernière mise à jour 18 Aug 2020
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Von Hippel-Lindau syndrome is an inherited disorder characterised by the formation of tumours and fluid-filled sacs (cysts) in many different parts of the body. Tumours may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
Description
Von Hippel-Lindau syndrome is an inherited disorder characterised by the formation of tumours and fluid-filled sacs (cysts) in many different parts of the body. Tumours may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
Tumours called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. 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 tumours, which are also called retinal angiomas, may cause vision loss.
People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumour.
Von Hippel-Lindau syndrome is associated with a type of tumour called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous in times of stress or trauma, such as when undergoing surgery or in an accident, or during pregnancy.
About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumours, which are noncancerous tumours 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. Without treatment, these tumours can cause sudden profound deafness.
Noncancerous tumours may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. These tumours do not appear to cause any signs or symptoms.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Angiomatosis retinae
Cerebelloretinal angiomatosis, familial
Hippel-Lindau disease
VHL syndrome
Maladie de Von Hippel-Lindau
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Lectures complémentaires et références
- Von Hippel-Lindau syndrome; MedlinePlus, National Library of Medicine.
- Ganeshan D, Menias CO, Pickhardt PJ, Sandrasegaran K, Lubner MG, Ramalingam P, Bhalla S. Tumors in von Hippel-Lindau Syndrome: From Head to Toe-Comprehensive State-of-the-Art Review. Radiographics. 2018 May-Jun;38(3):849-866. doi: 10.1148/rg.2018170156. Epub 2018 Mar 30.
- Kaelin WG. Von Hippel-Lindau disease. Annu Rev Pathol. 2007;2:145-73. doi: 10.1146/annurev.pathol.2.010506.092049.
- Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH. von Hippel-Lindau disease. Lancet. 2003 Jun 14;361(9374):2059-67. doi: 10.1016/S0140-6736(03)13643-4.
- Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011 Jun;19(6):617-23. doi: 10.1038/ejhg.2010.175. Epub 2011 Mar 9.
- Richard S, Graff J, Lindau J, Resche F. Von Hippel-Lindau disease. Lancet. 2004 Apr 10;363(9416):1231-4. doi: 10.1016/S0140-6736(04)15957-6. No abstract available.
- Sano T, Horiguchi H. Von Hippel-Lindau disease. Microsc Res Tech. 2003 Feb 1;60(2):159-64. doi: 10.1002/jemt.10253.
- Shehata BM, Stockwell CA, Castellano-Sanchez AA, Setzer S, Schmotzer CL, Robinson H. Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol. 2008 May;15(3):165-71. doi: 10.1097/PAP.0b013e31816f852e.
- Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol. 2006 Jun;36(6):337-43. doi: 10.1093/jjco/hyl052.
- van Leeuwaarde RS, Ahmad S, van Nesselrooij B, Zandee W, Giles RH. Von Hippel-Lindau Syndrome. 2000 May 17 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1463/
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