How is VHL diagnosed?
Doctors diagnose people with von Hippel-Lindau (VHL) disease using genetic testing and clinical assessment.
Genetic testing is the most accurate way to confirm if someone has VHL disease. It looks at DNA to search for the mutation in the VHL gene.
Doctors do genetic testing by taking a small blood sample. From there, the genetic material in the blood is checked for a mutated VHL gene.
Genetic testing may be performed on children and adults with a family history of VHL disease. Doctors can test children during the mother’s pregnancy or after the child is born. By diagnosing children early, pediatricians can start screening or surveillance sooner.
What happens after a VHL diagnosis?
VHL disease is a condition that can be managed over a lifetime. Your doctor will work in partnership with other healthcare providers who will help manage all aspects of your condition. Regular checkups can help find new VHL disease-associated tumors when they’re small and don’t cause as many serious problems.
Cysts and tumors caused by VHL disease can appear unpredictably. Ongoing monitoring can help your doctor:
- Keep an eye on any existing cysts or tumors
- Detect new cysts and tumors faster
- Uncover cancerous tumors
Why is early diagnosis and detection of VHL disease so important?
VHL disease can be serious, even if the cysts and tumors it causes aren’t cancerous. Approximately 97% of people who have a VHL gene mutation will get related symptoms by the age of 65.
That’s why getting diagnosed early and doing active surveillance—regular VHL checkups with a doctor—are so important. Finding cysts and tumors early can help your doctor manage them.
Talk with your doctor today
If you think you or a family member may have VHL disease, talk with your doctor about how to get screened and if a genetic test could be right for you.
Questions for your doctor