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| Von Hippel-Lindau disease Classification and external resources |
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| ICD-10 | Q85.8 | |
|---|---|---|
| ICD-9 | 759.6 | |
| OMIM | 193300 | |
| DiseasesDB | 14000 | |
| eMedicine | ped/2417 oph/354 | |
| MeSH | C10.562.400 | |
Von Hippel-Lindau disease (VHLD) is a rare, autosomal dominant genetic condition in which haemangioblastomas are found in the cerebellum, spinal cord and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and phaeochromocytoma. VHLD results from a mutation in the tumour-supressor gene on chromosome 3p26.1
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Nomenclature
Other names are: angiomatosis retinae, angiophakomatosis retinae et cerebelli, familial cerebello-retinal angiomatosis, cerebelloretinal hemangioblastomatosis, Hippel Disease, Hippel-Lindau syndrome, HLS, Lindau disease or retinocerebellar angiomatosis.
Signs and symptoms
VHLD may be diagnosed when one of its associated diseases starts to cause discomfort in the person suffering from the disease. Angiomatosis, haemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts and café au lait spots are all associated with VHLD.2 Angiomatosis occurs in 37.2% of patients presenting with VHLD and usually occurs in the retina, however other organs can be affected. As a result, loss of vision is very common.1
Genetics
The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of third chromosome.
VHL is an autosomal dominant disorder, but there is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from one 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 early in fetal development.
As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. If a mutation occurs in the second copy of the VHL gene during a person's lifetime, the cell will have no working copies of the gene and will produce no functional VHL protein. A lack of this protein allows tumors characteristic of von Hippel-Lindau syndrome to develop.
History
Eugen von Hippel described the angiomas in the eye in 1904.3. Arvid Lindau described the angiomas of the cerebellum and spine in 1927.4
People
Some descendants of the McCoy family (involved in the Hatfield-McCoy feud of Appalachia, USA) have VHL. In an article appearing in the Associated Press, it has been speculated by a Vanderbilt University endocrinologist that the hostility underlying the Hatfield-McCoy feud may have been partly due to the consequences of Von Hippel-Lindau disease. The article suggests that the McCoy family was pre-disposed to bad tempers because many of them had a pheochromocytoma, which produced excess adrenaline and a tendency toward explosive tempers.[3] Pheochromocytomas produce surges of adrenaline which are more often perceived as panic attacks than rage attacks. Left untreated, they will cause serious cardiovascular disease, heart attack, and stroke. Only about 20% of people with VHL get pheochromocytomas.[4]
See also
References
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This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (November 2008) |
- ^ a b Wong WT, Agrón E, Coleman HR, et al (February 2007). "Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis". Archives of ophthalmology 125 (2): 239–45. doi:. PMID 17296901, http://archopht.ama-assn.org/cgi/pmidlookup?view=long&pmid=17296901. Retrieved on 22 October 2008.
- ^ Lindsay, Kenneth W; Ian Bone, Robin Callander, J. van Gijn (1991). Neurology and Neurosurgery Illustrated. United States: Churchill Livingstone. ISBN 0-443-04345-0.
- ^ Von Hippel E. Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch Ophthal 1904;59:83-106.
- ^ Lindau A. Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation. Acta Ophthal 1927;4:193-226.
External links
- Clinical Description of VHL
- The VHL Handbook
- Von Hippel-Lindau Disease (VHL) at NINDS
- Von Hippel-Lindau syndrome at NLM Genetics Home Reference
- von Hippel-Lindau syndrome at CHORUS
- Hippel-Lindau disease at Who Named It
- Online 'Mendelian Inheritance in Man' (OMIM) 608537 (VHL gene)
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- This page was last modified on 20 November 2008, at 16:35.
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