Having VHL syndrome diagnosed

If you have VHL syndrome, you will be under the care of a multidisciplinary team. A multidisciplinary team consists of a range of specialist health professionals, for example, doctors, nurses, physiotherapist, pharmacists, as well as others.

You will be eligible to have regular screening to look for VHL-related tumours.

Screening and tests

From infancy and early childhood

• Annual eye examination

From 8 years of age

• Annual tests to check the levels of certain hormones (metanephrines) in your blood or urine

From adolescence

• MRI scans of the head every 12 to 36 months

From 14 to 16 years of age

• Annual tummy (abdominal) scans
• Annual hearing tests
• Annual assessment of neurological symptoms carried out by a neurologist (a doctor who specialises in conditions of the brain, spinal chord and nervous system).

Symptom awareness

We recommend you are vigilant about your body and let your GP know if you are concerned about any symptoms of VHL-related tumours and cysts. The team will explain more about any symptoms.

Support

Having diagnostic testing and receiving the results can be a challenging time. Some people may wish to talk through their feelings, coping strategies and other issues before making a decision, or after their result.

Support is available. Your genetics clinician will discuss these with you in more detail so you can choose what the best sources of support will be for you. They include:

• clinical psychologist
• your GP
• VHL UK Ireland Charity