Causes of Von Hippel-Lindau syndrome
VHL is a genetic condition. This means that the risk of developing cancer and other features of VHL can be passed from generation to generation in a family. The gene associated with VHL is also called VHL. A mutation, meaning alteration, in the VHL gene gives a person an increased risk of developing kidney cancer and other symptoms of VHL. Nearly everyone who has VHL syndrome has an identifiable VHL genetic mutation.

How is VHL inherited?
Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. VHL follows an autosomal dominant inheritance pattern, in which inheriting 1 copy of the altered gene is sufficient to put the individual at risk for developing cancer. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

Options exist for people interested in having a child when they know that 1 prospective parent carries a gene mutation that increases the risk for this hereditary cancer syndrome. Preimplantation genetic diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known genetic mutation to have children who do not carry the mutation. A woman’s eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and is tested for the hereditary condition in question. The parents can then choose to transfer embryos that do not have the mutation. PGD has been in use for over a decade, and more recently has been used for several hereditary cancer predisposition syndromes.  However, this is a complex procedure with financial, physical, and emotional factors to consider before starting.