von Hippel-Lindau syndrome homolog.
Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition
involving the abnormal growth of tumors in parts of the body which are
particularly rich in blood supply.
angiomatosis - little knots of capillaries in the retina and various organs.
hemangioblastomas - tumors of the central nervous system (CNS, especially the
cerebellum, brain stem, and spinal cord).
pheochromocytoma - tumors of the adrenal medulla that often produce
catecholamines
renal cell carcinoma - in some forms
pancreas - cysts and tumors of the pancreas, which may be neuroendocrine tumors
Untreated, VHL may result in blindness and permanent brain damage; death is
usually caused by complications of malignant tumors in the brain or kidney,
cardiovascular disease secondary to pheochromocytoma. With early detection and
appropriate treatment, there is more hope today for people with VHL than ever
before.
Types
There are various subtypes:
Type 1 (angiomatosis without pheochromocytoma)
Type 2 (angiomatosis with pheochromocytoma)
Type 2A (with renal cell carcinoma)
Type 2B (without renal cell carcinoma)
Type 2C (only pheochromocytoma and no angiomatosis or renal cell carcinoma)
Genetics
The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL)
gene on the third chromosome.
Von Hippel-Lindau disease is inherited in an autosomal dominant pattern.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.. Arvid Lindau
described the angiomas of the cerebellum and spine in 1927.
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-Landau
disease. The article suggests that the McCoy family was pre-disposed to bad
tempers because many of them had a pheochomocytoma, 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.
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.
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