Von Hippel–Lindau disease
Von Hippel–Lindau Classification and external resources
Typical distribution of hemangioblastomas in Von Hippel–Lindau disease.
ICD-10 Q85.8 ICD-9 759.6 OMIM 193300 DiseasesDB 14000 eMedicine ped/2417 oph/354 MeSH C10.562.400
Von Hippel–Lindau (VHL) is a rare, autosomal dominant genetic condition:555 in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma. VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Signs and symptoms
Signs and symptoms associated with VHL include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma) and café au lait spots. Angiomatosis occurs in 37.2% of patients presenting with VHL and usually occurs in the retina. As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms.
The disease is caused by mutations of the von Hippel–Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3 (3p25-26).
As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. Since both alleles need to be mutated in order for the disorder to develop, the second allele must develop the mutation in at least one other cell in their bodies. This is known as the two-hit hypothesis. If a mutation occurs in the second copy of the VHL gene, 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.
An inherited mutation of the VHL gene is responsible for about 80 percent of cases. 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. This is quite rare because the probability of a mutation occurring in a cell where both alleles are previously normal is quite small. Whether by new mutation or inherited mutation, the aforementioned second hit still needs to occur in order for a tumor to appear.
There is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. This suggests that the second mutation can occur in different types of cells and at various times of a person's life.
There is no current way to reverse the presence of the VHL mutation in patients. Nonetheless, early recognition and treatment of specific manifestations of VHL can substantially decrease complications and improve quality of life.
Some descendants of the McCoy family (involved in the Hatfield-McCoy feud of Appalachia, USA) as well as the Elliotts 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 predisposed to bad tempers because many of them had a pheochromocytoma, which produced excess adrenaline and a tendency toward explosive tempers. 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.
Other uncommon names are: angiomatosis retinae, angiophakomatosis retinae et cerebelli, familial cerebello-retinal angiomatosis, cerebelloretinal hemangioblastomatosis, Hippel Disease, Hippel–Lindau syndrome, HLS, VHL, Lindau disease or retinocerebellar angiomatosis.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ a b Wong WT, n E, Agró 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:10.1001/archopht.125.2.239. PMID 17296901. http://archopht.ama-assn.org/cgi/pmidlookup?view=long&pmid=17296901. Retrieved 2008-10-22.
- ^ 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 (1904). "Ueber eine sehr seltene Erkrankung der Netzhaut". Albrecht von Graefes Arch Ophthal 59: 83–106.
- ^ Lindau A (1927). "Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation". Acta Ophthal 4: 193–226.
- ^ "Hatfield–McCoy feud blamed on ‘rage’ disease". MSNBC.com. 2007-04-05. http://www.msnbc.msn.com/id/17967965/. Retrieved 2007-04-05.
- ^ "'Pheochromocytoma Information'". vhl.org. 2007-04-05. http://www.vhl.org/pheo. Retrieved 2007-04-05.
- 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)
- VHL Family Alliance support group
Phakomatosis (Q85, 759.5–759.6) Neurofibromatosis AngiomatosisSturge–Weber syndrome · Von Hippel–Lindau disease Hamartoma Other Translation Posttranslational modificationOther
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