Syndrome, von Hippel-Lindau
The cardinal features of von Hippel-Lindau (VHL) syndrome are benign blood-vessel tumors that most typically affect the eye and the brain. The eye tumors are termed angiomata and are in the retina. The brain tumors are termed hemangioblastoma and are in the cerebellum. VHL is complex. There can also be blood-vessel tumors (hemangiomata) in the spinal cord, adrenal glands, liver, and lungs. Pheochromocytoma (a benign tumor of adrenal-like tissue) occurs in some patients. The combination of high blood pressure (hypertension) with angioma may cause bleeding under the skull (subarachnoid hemorrhage). Kidney tumors (like hypernephromas) may be malignant and metastasize. An abnormal elevation of red blood cells (polycythemia) can be due to the hemangioblastoma of the cerebellum or the hypernephroma. Multiple cysts can occur in the pancreas and kidneys. Patients with kidney problems or pancreatic cysts do not have pheochromocytoma, and visa versa. Lab findings in VHL may include high calcium (hypercalcemia) and low potassium (hypokalemia) occurring with the pheochromocytoma. VHL is inherited as an autosomal dominant trait. The gene on one of the non-sex chromosomes is dominant over the normal gene with which it is paired so that one VHL gene is sufficient to cause the VHL syndrome. If a person has VHL, the chance for each of their children to receive the VHL gene is one-half (50%). The VHL gene has been mapped to chromosome 3 (the 3rd volume in the book of life) in region 3p26-p25. The VHL gene has the characteristics of a tumor-suppressor gene. The person with VHL inherits one inactive copy of the VHL gene (a germline mutation) from one of their parents. But the normal gene with which it is paired is still enough to suppress the formation of a tumor. Then, in one cell in the VHL patient’s body, another mutation (a somatic mutation) occurs, inactivating the VHL gene. Thus, both copies of the VHL gene are inactivated and a tumor arises in the VHL patient. The syndrome is named for the German ophthalmologist Eugen von Hippel who described the characteristic eye blood-vessel tumors in 1904 and the Swedish pathologist Arvid Lindau who recognized the association between the eye tumors and the blood-vessel tumors of the cerebellum and other parts of the central nervous system in 1926-7.

Medical dictionary. 2011.

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