The BHD Syndrome International Registry – 6 Month Update

What is BIRT?

The BHD Syndrome International Registry (BIRT) is a patient registry that collects information on the diagnosis, symptoms and management of Birt-Hogg-Dubé syndrome (BHD). The overall mission of BIRT is to improve the quality of life of those living with BHD. We hope to achieve this through collecting data that will allow a consensus on diagnosis and management guidelines to be produced. Diagnosing BHD early is important to ensure that the condition is managed so that any kidney cancer is caught as early as possible.

However, for BIRT to be a success, we need as many people as possible to get involved. One of the major problems that slows down research into rare conditions is the lack of data. Through BIRT, we can provide that data to researchers to help them answer so many of the unknown questions about BHD. This is a chance for the community to come together to drive forward and speed up research into BHD.

Find out how to get involved below.

Who is currently involved in the registry?

There are currently 173 people registered from 18 countries around the world. Around 2 thirds of people registered are female and one third are male. However, we know that gender doesn’t affect who gets BHD. Therefore, we encourage you to spread the word to your family members so that they can get involved. Most people are aged between 55 and 60, however this ranges from age 20 to 85. You can also sign up on behalf of someone and complete their information by proxy.

What do we know so far?


On average, people are diagnosed with BHD at age 44. However, the average age of first symptom is 30 years. This represents a huge gap between symptom and diagnosis. It also shows why we need more awareness of BHD to speed up diagnosis. Participants also reported the first time they contacted health services regarding symptoms of diagnosis of BHD. The average for this was 43 years. This suggests that people aren’t contacting their healthcare providers upon the first symptom of BHD. However, there are some caveats to this data. The main one being that this information is self-reported, and individuals may not have access to accurate health records. For example, one of the most commonly reported first symptoms is a collapsed lung (see below). It is likely that most people with a collapsed lung will have sought medical attention immediately. In the future, we plan to include clinician-reported data which will help establish the causes for the delay to diagnosis.

First Symptoms Reported

1. Fibrofolliculomas or other skin bumps (around 5 in 10 people)
2. Collapsed lung (around 4 in 10 people)
3. Kidney cancer or ‘Other’ symptom (around 1 in 10 people)


  • Around 8 in 10 people reported skin bumps
  • Around 7 in 10 people reported lung cysts
  • Around 5 in 10 people reported having a collapsed lung
  • Around 3 in 20 people reported having kidney cancer

This data is fairly consistent with the current literature on the proportion of people with each symptom. There are slightly more people reporting a collapsed lung and fewer people reporting kidney cancer. However, the average age of onset of kidney cancer is later than the other symptoms and so this data may change as people update the registry. This is one of the benefits of a patient registry – the ability to track how a condition affects a person over time.


15 out of 62 people had treatment for their fibrofolliculomas. However, 13 out of 15 people reported recurrence of their skin bumps. Currently, there are only treatments available to remove skin bumps. There is no treatment to prevent new ones from forming.

41 out of 101 people had treatment for their lungs. The most common type of treatment was a pleurodesis (31 people), followed by a chest drain (10 people). The pleurodesis was done as a preventative measure in 11 people. Of the people who received treatment, 9 reported having a collapsed lung (in the same lung) after treatment.

On average, people received their first kidney scan after diagnosis at age 44. This means that people were having their kidneys monitored very soon after diagnosis. Just under 9 in 10 people get regular kidney scans.


There is a huge delay between onset of symptoms and diagnosis. The reasons for this are yet to be uncovered. However, it is clear that more work needs to be done to raise awareness of BHD. Given the first symptoms commonly appear on the skin or in the lung, raising awareness of these symptoms among the general public as well as skin and lung doctors could help reduce the diagnostic delay.

More work also needs to be done to find better treatments, particularly for the skin. We are funding research to better understand fibrofolliculomas so we can identify potential therapies. In the future, we could use BIRT to help identify people to take part in clinical trials to test new treatments.

How Do I Get Involved?

We partnered with Pulse Infoframe to power the registry. Their platform is easy to use, and registration is easy.

1. Visit the BIRT website and fill out the registration form.
2. Check your email inbox and create a login to activate your account.
3. Sign the consent form.

After doing these 3 steps, you can start filling out the surveys.

We understand that there is quite a lot of information required, and it may take around an hour to complete the surveys. However, the BIRT platform is very flexible, and you do not have to do everything in one go. Your progress is tracked and is automatically saved so you can complete the surveys at your own pace. We are extremely grateful for your time and help in participating in the registry.

You can also help us by telling your family and healthcare professionals about BIRT. We have a letter you can use to tell your family members, and there is a leaflet advertising the registry to doctors.

If you have any questions or would like more information, please email us.

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