Von Hippel-Lindau Syndrome

How is VHL inherited?

VHL runs in families and can be passed down. It can affect both males and females.

VHL follows a dominant inheritance pattern. This means that having one faulty copy of the VHL gene can cause the condition.

Everyone has 2 copies of each gene in their body’s cells:

• 1 copy comes from our father
• 1 copy comes from our mother

A parent with a faulty gene(s) has a 50% chance of passing down their faulty gene(s) to their children. A child, sibling or parent of a family member with a faulty gene(s) has a 50% chance of also inheriting the same faulty gene(s). Extended relatives may also inherit the faulty gene(s).

While VHL may run in families, an estimated 20% of individuals with VHL may have acquired a faulty VHL gene at birth (de novo). Therefore, genetic testing may be offered in the absence of relevant family history if an individual’s personal history is suspicious for VHL.