You have BHD, what now?

BHD is not normally life-threatening if diagnosed and managed appropriately, and most people with BHD live a perfectly normal, healthy life. To help increase understanding of BHD, patients are encouraged to register for the BHD Syndrome International Registry (BIRT).

Exactly how having BHD will affect your life will depend on how your particular symptoms develop and how you deal with them. There is currently no cure, and because it is a very rare condition it is unlikely you will already know anyone outside your family going through the same thing.

It is important to find the support you need. You may want to talk to a family member, friend, religious advisor, counsellor, or join a support group. There is also a private patient-led BHD Syndrome support group on Facebook, which is particularly active.

In terms of your health, we recommend finding a doctor that you trust and will help you put together the team of specialists you will need to keep an eye on your symptoms. You should also consider talking to a genetic counsellor.

It is particularly important that BHD patients get regular kidney scans. In most cases, BHD kidney cancer is not very aggressive and does not spread, and there are very few reported cases of death due to BHD kidney cancer. Having regular scans will allow your doctors to find and treat any cancers early.

In Europe, the current advice is that BHD patients should get yearly scans from the age of 20. The US guidelines say that if no tumours are found at your first scan, follow up scans should be every three years, or more frequently if cysts or tumours are found.

Now you know you have BHD, you should learn the symptoms – particularly for a collapsed lung and kidney cancer – so that you know to seek medical advice if you need it. On the following pages we provide more in-depth information about the individual symptoms of BHD syndrome, including treatment information.

Last Updated: May 2021
Review date: May 2024