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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.
Features
Features of VHL are:
- angiomatosis - little knots of capillaries in various organs
- hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum). These tumors, whether benign (usual) or malignant (rarer), may cause problems, for example angiomas in the brain or spinal cord may press on nerve or brain tissue. As an angioma grows, the walls of the blood vessels may weaken and leak, causing damage to surrounding tissues. Blood leakage from angiomas in the retina can interfere with vision. Cysts may also grow around angiomas.
- pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines
- renal cell carcinoma - in some forms
Types
There are various subtypes (see OMIM):
- 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 VHL gene on the short arm of the third chromosome (3p26-p25). The resultant protein is produced in two forms, an 18 kDa and a 30 kDa protein that functions as a tumor suppressor gene
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. Untreated, VHL may result in blindness and permanent brain damage, death is usually caused by complications of malign tumors in the brain or kidney.
History
Dr. Eugen von Hippel described the angiomas in the eye in 1904. Dr. Arvid Lindau described the angiomas of the cerebellum and spine in 1926.
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.
External links
- OMIM 608537 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537) (VHL gene)
- OMIM 193300 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193300) (Von Hippel-Lindau syndrome)
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