Screening for von Hippel-Lindau

Active surveillance is a patient’s best defense to prevent severe von Hippel-Lindau complications.

Close monitoring and regular screening for new tumor growth are an important part of your von Hippel-Lindau (VHL) care plan, ensuring treatment can be provided as early as possible.

We offer the most advanced diagnostic methods for von Hippel Lindau disease, including precise imaging techniques.

In addition to comprehensive genetic testing and counseling for those with a family history, our VHL Clinical Care Program’s screening for new patients includes abdominal ultrasound, ophthalmic and neurological examination, serum catecholamine measurement, and an auditory symptom questionnaire.

VHL active surveillance and screening

Active surveillance is the testing of those at risk for VHL who do not yet have symptoms, or who are known to have VHL but do not yet have symptoms in a certain area of the body. The unaffected organs should still be screened.

Your VHL team will create a surveillance schedule tailored to your individual needs and family history, which may sometimes be done by physicians familiar with individual patients and their family history. More frequent testing may be needed to track the growth of known lesions.

Based on guidelines from the von Hippel-Lindau Alliance, patients who have had a DNA test and do not carry the altered VHL gene may be excused from testing. Even with the VHL gene, once an individual has reached the age of 60 and still has no evidence of VHL on these surveillance tests, imaging tests may be reduced to every two years for MRI.

Screening surveillance may include on or more of the following:

• MRI for the abdomen, brain, cervix, thorax, and lumbar spine.
• CT scans, reserved for occasions when it is truly needed to answer a diagnostic question.
• Auditory (hearing) tests to provide a reference point in case of signs or symptoms of hearing loss, tinnitus (ringing in the ears), and/or vertigo (dizziness, loss of balance).
• Ophthalmic and neurological examination.