Why should I be tested for BHD?

There are three main reasons to get tested for BHD if you think you might have it:


1 – so you can monitor your health

The most dangerous symptom of BHD is kidney cancer. However, if found and treated early it is not normally life-threatening. If genetic testing shows you have BHD, you will be able to have regular kidney scans and any tumours you may develop can be found and treated before they become dangerous.

You will also know that you are at risk of getting a collapsed lung, so will be able to avoid activities that make this more likely. You will also know the symptoms to look out for and be able to get to hospital as soon as possible if your lung collapses.

It is important to realise that even if you don’t have any symptoms now, you may develop them in the future, so if any of your close relatives has BHD, you should consider getting tested.


2 – for your family

BHD is a genetic disease, so your blood-relatives are also at risk. If testing shows you have BHD, then the rest of your family know to get tested. Additionally, rather than analyzing the whole gene, your relatives can be tested just for the specific mutation you have, which is much faster and cheaper.


3 – for a correct diagnosis

If testing shows that you don’t have BHD, your doctor will be able to explore other causes of your symptoms. Getting the correct diagnosis is very important in order to manage your health, and – if the condition is genetic – your family’s health.

Some of the diseases that cause similar symptoms to BHD are listed on the following pages:

  • Differential diagnosis – Skin
  • Differential diagnosis – Lung
  • Differential diagnosis – Kidney


Publication date: December 2014
Review date: December 2017