Q: What is BHD?
Birt-Hogg-Dubé syndrome, also known as BHD, is a rare genetic disease caused by mutations in a gene called Folliculin. 600 families worldwide are known to have BHD however it is likely underdiagnosed.
People with BHD can develop benign skin lesions, lung cysts, collapsed lungs and slow-growing kidney cancers. Importantly if the symptoms are well managed most people with BHD live normal lives.
Q: Is BHD life-threatening?
BHD is not normally life-threatening and with regular monitoring and an understanding of the symptoms, most people live normal lives.
Q: What are the symptoms of BHD?
Q: Is there a cure?
Although there is currently no cure for BHD the symptoms can be well managed and most people can lead normal lives.
Skin bumps can be removed but will grow back, collapsed lungs can be treated, and kidney cancer, which is usually slow-growing and rarely spreads, can be monitored and removed. Information on how to manage skin bumps, collapsed lungs and kidney cancer is available on the For Families section of our webpage.
Our aim at the BHD Foundation is to fund research into BHD with the hope of one day finding a cure.
Q: What are the treatments for the symptoms of BHD?
Treatment for BHD syndrome is based on treating each individual symptom.
Fibrofolliculomas are skin-colored bumps which are not harmful. However, they can cause anxiety and for people to feel self-conscious. It is possible for them to be removed but they may grow back. Some doctors have reported that using lasers or ablation techniques has improved the appearance of fibrofolliculomas for several years.
As they don’t reduce lung function, lung cysts do not need any specific treatment.
There are several methods of treating a pneumothorax, but BHD experts suggest that the best way to reduce the chances of getting further episodes of pneumothorax is to have combined pleurectomy and pleurodesis. This physically sticks the outside surface of the lung to the inside of the chest wall, and should stop lungs from collapsing again.
You can also reduce your chances of developing a pneumothorax by quitting smoking, avoiding activities that cause large pressure changes including flying in unpressurised aeroplanes, scuba diving and strenuous activity at high altitudes. If you partake in any of these activities it is not always necessary to stop but it should be discussed with your doctor.
BHD associated kidney cancer is usually slow-growing and does not often spread to other parts of the body. BHD experts recommend getting regular scans to monitor your kidneys and removal of any tumours when they reach 3 cm.
As patients may develop more tumours in the future, surgeons should remove as little kidney tissue as possible to preserve kidney function. Most BHD patients will only need one kidney surgery in their lifetime.
You can read more in depth information about treatment on the following pages:
Q: How many people get each symptom?
There is some evidence that the prevalence of certain BHD symptoms vary in different populations. You can find out more here.
Q: At what age do the symptoms of BHD develop?
On average, people with BHD start developing skin lesions after the age of 20, have their first lung collapse in their twenties or thirties, and develop kidney cancer in their late forties or early fifties.
However, there are always exceptions, which is why we recommend regular kidney screening from the age of 20 to monitor for kidney cancer.
Q: Can BHD cause any other symptoms?
There is some evidence that BHD patients may also be at risk of getting colon cancer, parotid tumours and thyroid nodules, but this evidence is not conclusive at the moment. Research is being undertaken in this field to ensure BHD patients are offered the most appropriate screening and management.
Q: How do I know if I have BHD?
While having the symptoms of BHD suggests that you have it, the only way to know for sure is to get a genetic test. This involves taking a small sample of blood to look for mutations in the Folliculin gene.
You can ask your usual doctor to refer you for genetic testing, or email us at contact@BHDSyndrome.org and we can advise you on how to get tested.
Q: Do my children have BHD?
If you have BHD, each of your children has a 50:50 chance of inheriting BHD.
In most cases, BHD symptoms develop after the age of 20, so many people choose to wait until their child is old enough to decide for themselves if they want to have the genetic test. However, there have been a few cases of children having recurrent episodes of pneumothorax, and later being diagnosed with BHD, so as a parent, you should be aware of this (very small) risk and able to recognize the symptoms.
Q: How can I have BHD if no one else in my family has BHD?
There are two possible explanations for this:
Firstly, it is possible that you developed a mutation in the Folliculin gene when you were an embryo and are the first person in your family to have BHD. This is called a “de novo” mutation. This is extremely rare, with one case having been reported. Therefore, it is far more likely that one of your parents and other older family members do have BHD, but they just haven’t been diagnosed.
BHD wasn’t described until the late 1970s, so any patients showing symptoms before then simply would not have been diagnosed. Additionally, as BHD is so rare many doctors have not heard of it, so it is possible that your family members did have the symptoms, but their doctors did not diagnose them correctly.
Alternatively, just under half of BHD patients will never get a collapsed lung or kidney tumour. Lung cysts by themselves rarely show symptoms, and some people don’t get many skin lesions. It could just be that your family members were in this lucky group of BHD patients who never had too many symptoms, and so although they had BHD, it never caused them any health problems.
Q: Is there anyone I can talk to?
There is a private patient-led BHD Syndrome support group on Facebook, where members of the BHD community can share their experiences and ask questions. The BHD Foundation also organizes online events and runs yearly symposia where there is the opportunity to talk to BHD experts.
The BHD Foundation Team are always available to answer questions, simply email us at firstname.lastname@example.org.
Q: How do I find a doctor?
You can locate your nearest specialist centre using our interactive map. Alternatively, If you are having any difficulty identifying a doctor please email us at contact@BHDSyndrome.org, and we will put you in touch with your nearest specialist.
As BHD is so rare, specialists are few and far between. We have designed a range of information pamphlets which you can print off to give to your doctors. We also have a ‘For Clinicians’ page, which you can direct your doctor to. As long as your doctor is willing to learn about BHD with you, there is no reason your health should be put at risk if you can’t find a doctor who already has specialist knowledge of BHD.
Q: Can I fly or go scuba diving if I have BHD?
Sudden changes in air pressure can increase the chances of developing a collapsed lung, so if possible avoid activities where you will be exposed to large changes in air pressure (such as flying in unpressurised planes or scuba diving).
However, if you are a keen scuba diver and have not previously had problems, or if it is a lifetime ambition of yours to go diving, it might be possible for you to continue with these activities if your doctor thinks it is ok, if you are hyper-vigilant to symptoms, and if you warn your flying/ diving mates of the potential risks. It is also important to be aware of how to get to your nearest hospital especially if you are somewhere remote.
Researchers have found that a small number of BHD patients (1 in 16) develop a pneumothorax up to a month after taking a commercial flight. Their advice is to be alert to any symptoms of a collapsed lung after flying, and if you develop any symptoms, however minor, to get a chest X-Ray as soon as possible. They also suggest that you take a copy of this study with you to show your doctor.
Q: Where can I find more information about BHD?
The BHD Foundation webpage includes information about BHD, leaflets, personal accounts, and interviews with researchers. We also run regular Meet the Expert events where we bring members of the BHD community together.
We are always available to answer questions, simply email email@example.com and one of the BHD team members will get back to you.
Last Updated: August 2021
Review date: August 2024