We are excited to announce that the new website, The BHD Foundation, will be launching very soon! We have been developing the website over the last six months alongside members of the BHD community and we can’t wait for you to see it.  

Our aim is to create a space where you can easily find information about BHD and keep up-to-date with the latest news. The new website includes the latest BHD research, resources for you, your family and your doctor, and ways you can get involved with the Foundation’s work.

You may also remember that earlier this year we asked you to vote on your favourite colours for the new website logo. The new logo will be launched alongside the website. Although some of you may have seen a sneak peek of the logo earlier this year!

We still want your feedback on the new website once it has launched. If you feel any information is missing or that certain parts can be improved let us know. The website is made for you and we are always open to suggestions.

Thank you to everyone who has provided feedback on the website, told their BHD story and helped us raise awareness of BHD. This website wouldn’t have been possible without you. 

Follow us on social media for the big website reveal soon.

September is Urology Awareness Month – a month to raise awareness of urological diseases including kidney cancer. This campaign takes place every year, to spread knowledge and bring together the urology community, such as researchers, doctors, allied healthcare professionals and patients.

How is kidney cancer relevant to BHD?

BHD is a genetic disease and, in some people, it can lead to tumours over time. Fewer than 1 in 3 people with BHD get kidney cancer. People with BHD may develop tumours in both kidneys or more than one tumour in the same kidney at the same time. However, in most cases, tumours in the kidney(s) develop slowly and with regular monitoring and treatment are usually not life-threatening.

What measures can I take as a BHD patient?

It is recommended by experts to have regular kidney scans from adulthood. Early diagnosis is vital as it can lead to early management and treatment.

What are the symptoms of kidney cancer?

In the majority of kidney cancer cases, the signs of kidney cancer show during the mid-to-late stages of the condition. That is why it is so important to have kidney scans in BHD as you may not have any symptoms in the early stages.  There are a range of symptoms, but the most common symptoms include:

• Blood in your urine
• Constant pain below the ribs
• A lump or swelling in your side

Other less common symptoms of kidney cancer are:

• Unexplained weight loss and/or loss of appetite
• Extreme tiredness
• High blood pressure
• Night sweats
• High temperature

If you do have any of these symptoms, it is important that you see a doctor.

What are the treatments for kidney cancer?

The treatments for kidney cancer vary case by case. It’s important to tell your kidney doctor that you have BHD and that over time you may develop more kidney tumours. This may affect the treatment you are offered.  In BHD tumours are usually only removed once they are 3cm long. Treatments include:

• Partial nephrectomy: This is a procedure which removes the cancer but leaves as much of the kidney as possible. This type of surgery is usually recommended in BHD cases.
• Radical nephrectomy: This is surgery where your entire kidney is removed. For some patients, this can include the removal of surrounding structures such as fat and lymph nodes.
• Radiofrequency ablation: Radio waves are used to kill cancer cells.
• Medicines: There are targeted cancer medicines that aim to stop the cancer from growing. These are normally used in cancer that has spread around the body.  
• Radiotherapy: Radiotherapy uses radiation to kill cancer cells. This is not often used in kidney cancer cases.

There are other treatments available for kidney cancer. Please click here to read more about treatments.

How can I take part in Urology Awareness Month?

You can help spread awareness of kidney cancer and other urological conditions on social media, or by simply talking to friends, family, and colleagues.

The Urology Foundation have a range of resources that you can use. This includes, posters, leaflets and more. Their website also has a guide on how to raise awareness on social media and fundraising ideas.

Please join us this month to raise awareness about kidney cancer and help people with BHD learn more about the condition.

BHD is a condition that exists worldwide, but its’ effects may differ nation to nation. A group of researchers in South Korea looked at people with BHD to determine the presenting characteristics of the disease and it revealed interesting results. In this blog, we discuss the study and why the findings are so important. 

Looking for BHD

This study invited 31 participants who live in South Korean, all of whom had lung cysts, but had not been tested for BHD. Through genetic testing, the researchers diagnosed 11 out of the 31 participants with BHD after the FLCN gene mutation was identified. The people in the non-BHD group who had lung cysts were generally older and it is likely they are a result of normal ageing, as lung cysts can be found in the general population.

What did BHD look like in these patients?

To get an understanding of how the condition looked like in the BHD group, common features were compared with the non-BHD group. Firstly, there was a higher incidence of lung collapses in the BHD group than in the non-BHD group. Interestingly, kidney tumours were not seen in the BHD group, but one person in the non-BHD group had a history of kidney tumours. Kidney tumours are one of the common features of BHD, but it is important to note that it does not appear in every BHD patient.

Another finding that may have been unexpected is the prevalence of lung cysts between both groups. The researchers completed CT scans (using x-rays to create images of the inside of the body) to look at lung cysts. More than half of the non-BHD group had more than 40 lung cysts present. In contrast, only two people with BHD had over 40 lung cysts. 

Skin bumps are also a common characteristic of BHD but in this study, no one with BHD had skin bumps. 

How does this compare to the rest of the world?

To conclude if BHD does look different in South Korea, the authors of this paper looked at previous studies. Global data suggests that patients with BHD usually present with typical skin bumps and kidney tumours. However, these two characteristics were not common in the BHD group from this study. For example, no patients in this study had skin bumps, but in Western countries it’s been reported to be among one of the most common BHD symptoms. The most common feature that BHD patients shared in this study was lung collapse. Out of the 11 patients with BHD, 10 individuals had experienced lung collapse. In western countries, lung collapses are thought to occur in around 1 in 4 people with BHD.  Consequently, the researchers concluded that lung collapses may be more common in South Korean patients with BHD, with other symptoms such as skin manifestations and kidney tumours being less common when compared to BHD patients of other nationalities.

One size does not fit all

So, does BHD look different in South Korea? It is possible that BHD may look different in various parts of the world. For example, a major diagnostic criteria for BHD is skin manifestations but, in this study, this symptom was less common in South Korean patients. Genetic differences do exist among ethnic groups, and this is something we may need to consider when screening for BHD. If the presentation of BHD differs in some parts of the world, it is possible that countries will need their own tailored diagnostic criteria for BHD to ensure the condition is not undiagnosed in patients. However, to truly determine this, more research is required looking at BHD in people of different nationalities. It is also important to note that this study had a relatively small sample population, and although its results are similar to other studies done in South Korea,more research is needed to reach a stronger conclusion.

To read the full paper, please click here. We have also looked at BHD in populations of other counties including China and Sweden. 

Earlier this year we wrote a blog post on the discovery of a new genetic condition that looks very similar to BHD. It was caused by a mutation in a gene called PRDM10. Another family has now been found to have this same genetic mutation.

But why is this important for people with BHD? We know that a small number of people who have features of BHD have a negative genetic test. There could be a number of reasons for this. Firstly, you may have an unusual type of Folliculin (FLCN) mutation. FLCN is the gene that when mutated causes BHD. Or you may have a mutation in another gene that causes BHD syndrome or causes symptoms very similar to BHD, such as PRDM10.  Now we know that PRDM10 looks similar to BHD, people with negative BHD tests should be tested for PRDM10 instead.

The discovery

The National Cancer Institute has been caring for a family with suspected BHD since 1998. Although they had characteristics of BHD including skin bumps and kidney cancer, no folliculin mutation was ever found.

The whole family were examined. Of the Eight family members with symptoms:

• Five of them had their skin bumps biopsied. It was confirmed to be fibrofolliculomas, which have only been seen in BHD.
• Two family members had one lung cyst each.
• One family member had a past lung collapse.
• Seven of them had kidney cancers.
• Five family members had lipomas (soft lumps under the skin).

All of these are features of BHD except for Lipomas. The lipomas were seen in all three generations of the family suggesting that they were genetic.  In addition, the kidney cancers seen in this family were not typical of BHD. Most of them had a type of kidney cancer called papillary/clear histologic subtypes.

A technique called Whole Genome Sequencing was performed to look at all the genes that the family members were born with. They discovered a mutation in PRDM10, a gene that had a role in stopping tumour growth.

The difference between BHD and this new condition

This new condition has similar characteristics to BHD but there are also some differences. One visible difference is that people with PRMD10 mutations get lipomas. As these do not occur in BHD it could be an important sign that skin doctors could use to help with their diagnosis. Secondly, this family did not have many lung symptoms which we know is very common in BHD. Lastly, the kidney cancer seen in PRDM10 was very different. In BHD you tend to get multiple tumours that are slow growing and rarely spread. In the PRDM10 family, they had fewer tumours in their kidney but they grew quicker and the cancer did spread in 5 of them.

Due to the risk of the cancer spreading, the research team advised that people with PRDM10-associated kidney cancer should be monitored carefully and be treated with surgery early.

It’s important to note that this study only looks at one family with the PRMD10 mutations. There are lots of different types of mutation that can affect a gene and change how it behaves. It’s possible that the type of PRMD10 kidney cancer may vary depending on the PRMD10 mutation.

Disguising as BHD

So why does this condition disguise itself as BHD? There are lots of signalling pathways in the body that ‘talk’ with each other and keep our body working. Some genes when mutated will cause some of these pathways to shut down or become activated. Mutations in PRDM10 lead to loss of FLCN, which is likely why these people have BHD symptoms. However, PRMD10 will also affect other pathways which is likely why we see additional symptoms.

What does this mean for the BHD community?

Altogether this study provides further evidence of a new condition that looks similar to BHD. The researchers suggest that people who have features of BHD but no FLCN mutation should be screened for PRDM10, especially if they have lipomas.

If someone is identified to have a PRDM10 mutation, their kidneys should be carefully monitored and their doctor should consider early surgery to remove any tumors.

The full paper can be found here.

Effie worked as a research nurse (RN) caring for people with BHD. In 2011/2012 she volunteered to take part in a clinical study where they incidentally found that she had BHD.  In this interview, Effie shares her experience of transitioning from carer to patient. She also provides insight into the importance of genetic counsellors.

Please tell us about your time caring for people with BHD?

I was a RN for the NIH Clinical Centre from 1991- 2022. During 1995-2005, I was an inpatient intensive care unit RN during which I cared for post-op patients including those who underwent nephrectomies (surgical removal of the a kidney) under the care of Dr M Linehan, who studied BHD in specific kidney cancer patients.

When I transferred to a research position within the NCI Dermatology Branch, I became familiar with the skin manifestations experienced by BHD patients, as well as the very early understanding of BHD inheritance patterns.

How were you diagnosed with BHD?

At the NIH, an NHGRI clinical study named ClinSeq was enrolling healthy volunteers with a specific family history of heart disease and I enrolled. I was genetically sequenced in the summer of 2011 or 12 and notified of some “incidental findings” as per the informed consent.

I initially received a phone call to return to the genetic clinic at NIH for follow up. I asked why, and the RN asked me a few questions, to which I immediately KNEW she was “kind of screening me” for the possibility of having any signs, symptoms or history of BHD. So, I point-blank asked her if she WAS asking me about BHD and she informed me she could not disclose this and I had to come in to speak to the team, which I fully understood.

I had the privilege of working with two of the best Nurse Practitioner Genetic counsellors at NIH who taught me the value and importance of their role in patient care and education especially with newly diagnosed patients. One sat in with me during the genetic disclosure meeting of the “incidental finding” of BHD. Dr Les Beisecker was another attendee. They expressed an interest in asking me how I felt about this diagnosis since I was familiar with BHD. I replied that I knew it was significant and that it was a syndrome that warranted surveillance and diligence based on baseline findings, but, in my case, was NOT a death sentence.

I did have some very minor skin lesions and a few lung cysts and few small renal cysts, but was able to run marathons, cycle unimpacted and live life unimpeded. I was sent home and advised to return every three years for surveillance per protocol. The hardest part was informing my daughter that SHE should be tested (she was an adult at that time) Sadly, she suffered a lung collapse in 2019, after which she was sequenced and found to have the same genetic variance as me. You cannot imagine the guilt. She underwent a pleurodesis and did very well and is thriving under the care of a LAM/BHD specialist and taking all the right precautions!

What symptoms of BHD do you have and what monitoring do you receive? 

I return to NIH for renal MRI and follow up. I understand that the risk for renal cancer is significantly increased in patients with BHD and if caught early, the rate of successfully treating is excellent.

My current symptoms are an increasing number of facial and neck fibrofolliculomas, minor lung blebs/cysts (I do feel them POP at times, but no lung collapses) and no other issues.

Has being diagnosed with BHD changed the way you live your life?

Not really except that if I DO experience MORE than the usual POP of a small bleb and the feeling does not go away or worsens, I know to go seek emergency care and notify care providers of the issues unique to my lungs. (watch the BHD Foundation video about the symptoms of lung collapse.)

Do you have any words of advice or wisdom that you’d like to share with other people with BHD?

Please make certain you spend time with a qualified genetic counsellor to gain a full understanding of what BHD means for you and YOUR health.  The tricky part may also involve how your diagnosis may impact whether you inform your relatives. Remember- your relatives may NOT want to know- so tread carefully with this ethically tricky issue. Ask your counsellor for advice on how to approach this.

We would like to thank Effie for sharing her BHD Story.  

If you are looking for a BHD genetic counsellor, please visit our map of doctors or email us at contact@bhdsyndrome.org.

A recent study investigated the genes that may cause parathyroid cancer. In this study, the researchers found the same genetic variants associated with BHD in some patients with parathyroid cancer. This blog will discuss the results and shed some light on if there is a link between the two conditions.

What is parathyroid cancer?

Parathyroid cancer is a condition in which cancer cells form in the tissues of a parathyroid gland. It is a rare condition, but it recurs in at least 1 in every 2 people. This means for a large number of people, the condition may return after it has been treated. There is currently no approved systemic therapy for the condition. This is therapy that travels through the entire body instead of targeting one area. The high reoccurrence rate coupled with the lack of systemic therapy, supports the need to develop new effective treatments. 

Parathyroid cancer has not been reported in BHD. However, non-cancerous BHD tumours have been seen in people with BHD.

Hunting for genes

The researchers analysed the genes of 17 patients with ‘sporadic’ parathyroid cancer. This is cancer that occurs in people who do not have a family history of that cancer.

Germline folliculin (FLCN) sequencing was performed in the 17 patients with sporadic parathyroid cancer. Mutations in the FLCN gene are associated with BHD. Germline sequencing is a type of DNA testing that looks for inherited mutations. The researchers found germline FLCN variant in three patients. Two of these patients were diagnosed with BHD. Consequently, the study presented the first recorded cases of parathyroid cancer in people with BHD.

The researchers also found somatic FLCN variants in two patients. Somatic mutations are changes in the DNA which occur after conception. In other words, they are not inherited. The two patients with somatic FLCN variants did not have any symptoms of BHD.

The researchers then analysed parathyroid non-cancerous tumours in 74 patients to look for FLCN variants. In this study, FLCN variants were not found in the 74 patients.

Why are these results important?

This study provides new information on if there is a possible link between parathyroid cancer and BHD. Firstly, FLCN mutations were found in people with parathyroid cancer. However, we do not know if BHD causes parathyroid cancer especially as it has been reported in so few people. It is possible that they developed parathyroid cancer by chance. Interestingly, although previously reported, no FLCN mutations were seen in the 74 people with non-cancerous parathyroid tumours in this study. These results point towards a clear need for further research.

To increase our understanding of BHD, it is crucial that we get more data. Last year, we launched the BHD syndrome international registry (BIRT). BIRT is a patient-reported database where people with BHD can upload information about their condition. The data can drive research and help answer questions. Take part in the registry now. Click here to email us with any questions.

We are sorry but this paper is not freely available. If you have any questions please contact us at contact@bhsyndrome.org

Debbie was diagnosed with BHD 40 years after her first lung collapse. Her story went live from the Medical University of South Carolina, cancer division.

Debbie describes how her diagnosis of BHD led to her doctors spotting another type of cancer on a routine lung scan. She also discusses how lung surgery has changed since her first lung collapse and her positive experience of robotic surgery.

‘”Such a massive difference from 45 years ago. I was told I would be in the hospital for three to four days after the surgery, when in fact, I was released just 28 hours after the surgery. Mind blown!”

Read Debbie’s full story.

Rebecca was diagnosed with BHD after several lung collapses, multiple visits to the hospital and an incorrect diagnosis of anxiety. In this video, she shares her personal story of BHD. She also discusses the importance of advocating for yourself and not giving up when you can’t find an answer.

Watch Rebecca’s Story below or read the transcript.

Watch more BHD stories here.  You can also learn more about lung collapses on our World Pneumothorax Day webpage.

Did you have a lung collapse for no apparent reason? Did it take years for you to be diagnosed with BHD? It’s one day until World Pneumothorax Day (WPD) and today we are sharing Annita’s BHD story reflecting on her BHD journey and how lung surgery has changed in the last 30 years. Watch her interview below or read the transcript.

You can take part in WPD by raising awareness on social media. We have a dedicated WPD social media toolkit.

Maree P had her first lung (pneumothorax) collapse as she won a cross-country running race. 50 years on she shares her experience of being diagnosed with BHD.

What were your first BHD symptoms?

At the age of 15, I had my first pneumothorax after crossing the finish line of a Cross Country running event. I won! I felt extreme pain in my chest and initially couldn’t get my breath. After a few days I commented to my mother that I had strange gurgling noises running up my back. After a visit to the Doctor, I was sent to ED where I spent a week in hospital, touching my toes so the junior doctors could hear my gurgling chest! This happened in 1972! Ten years later I had another spontaneous pneumothorax and another one around 2012 then 2016.

How did you end up diagnosing yourself with BHD?

After my third spontaneous pneumothorax I attended ED, mainly to see if I could have a needle aspiration to remove air so I could fly to Bali. I was then given a referral to the Respiratory Clinic to investigate my history of pneumothorax. After two years of CT scans, lung function tests and being tested for almost every lung disease, seeing many doctors within the clinic,  I decided to seek a second opinion from a private Respiratory Physician. He was intrigued by my case and said he was going to look at a few possible causes but not to look them up on Google. I decided to search on Dr Google anyway but just typed in Lung Cysts and skin images popped up, being fibrofolliculomas, which looked exactly like my older brother’s skin! I emailed my Physician asking could it be BHD and he said “rare as hens’ teeth but let’s not discount this possibility”. After seeing a Genetic Specialist and having blood sent from Perth to America, my results came back months later as being positive for BHD.

You were told you were the first case of BHD in Western Australia. Had your doctor ever heard of BHD, and did you have any difficulties getting Genetic Testing?

It was a few weeks before I could see a Genetic Specialist but because BHD was reasonably rare, the wait for results was almost a year, given my bloods were sent to America. However, once I was diagnosed, my siblings didn’t have to wait long as pathologists knew what they were looking for, I guess. Also, I didn’t have to pay for this service which was a bonus.

The Professor I was initially supposed to see at the Respiratory Medical Clinic was aware of BHD but I didn’t get to see him as I wasn’t deemed sick enough I think. I can completely understand this as he sees many very sick patients with chronic lung diseases and being a public hospital, they are overwhelmed with cases.

How Supportive are your doctors now?

Professor Lee and his team at Respiratory Clinic at QE 11 Hospital have been extremely supportive and thorough with scans and getting regularly screened for possible cysts on kidneys or lungs. He often sends in new or Junior doctors to have a chat with me and check my skin to see what fibrofolliculomas look like. Any other specialist doctors I see with issues relating to BHD receive updates from the clinic. Since I was diagnosed (around 2014) others have been picked up having BHD. Five out of my seven siblings have since tested positive to BHD. We call it the ‘BIRT CLUB”!! However, I remind Professor I am his “Numero Uno”!

How Important is it to talk about BHD?

Obviously, it’s important to educate medical people of BHD as some symptoms like a pneumothorax can imitate a heart attack for example and correct treatment for care and survival is crucial. Also, kidney cancer can be managed if cysts are monitored or removed, if necessary, without taking the whole kidney out! Anaesthetists for instance, also need to understand possible complications during surgery if lungs are overinflated. The BHD Foundation website is also very helpful and supportive, especially to people who are newly diagnosed as the possible symptoms and impact on life can be overwhelming at first. Also, if Doctors/Paramedics are not aware of BHD, correct care is not administered.

Do you have any words of advice or wisdom that you’d like to share with someone who thinks they may have BHD?

Most importantly, get genetically tested to confirm you have BHD or find a doctor who is familiar with BHD. Everyone with BHD experiences different symptoms in varying degrees. Stay well informed, belong to a BHD support group, if possible, share experiences with other BHD people on social media like the BHD Foundation.  BHD is not a death sentence and with regular screening of kidneys, lung function tests, correct care, living a healthy lifestyle, knowing your limitations and a positive attitude, you should be able to live your best life.

The BHD Foundation would like to thank Maree P for sharing her story. Through sharing personal stories of BHD, we can increase awareness and hopefully speed up time to diagnosis.

If you are looking for a BHD doctor visit our interactive map or email us at contact@bhdsyndrome.org

You can also find out more about genetic testing in our toolkits.

Do you want to raise awareness of BHD? Join us on June 30th on social media for World Pneumothrax Day 2023! We have a social media toolkit with example posts and customisable images.