Von Hippel-Lindau disease

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Von Hippel–Lindau disease (VHL) is a rare, autosomal dominant genetic condition[1]: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.[2]

Contents

Signs and symptoms

Angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma) and café au lait spots are all associated with VHL.[3] Angiomatosis occurs in 37.2% of patients presenting with VHL and usually occurs in the retina, however other organs can be affected. As a result, loss of vision is very common. Also strokes, heart attacks, and cardiovascular disease are side effects along with loss of vision.[2]

Genetics

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, it would be easy to assume that the mutation is recessive. However, studying the patterns of heredity, we see that VHL is, paradoxically, an autosomal dominant disorder. This is because people who have already inherited one mutated copy of the gene have an extremely high probability of developing the second 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.

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