Birt-Hogg-Dube syndrome (BHD) is a rare inherited disorder that affects the skin and increases the risk of pneumothorax and kidney tumors.
Hi Alec, I wonder if a second opinion might be a good idea? Or talking to a clinician with a background in genetics or genetic oncology, or to a genetic counsellor, as Kate suggests. It is true that whether or not you get a gene test doesn't change your condition, but the results would affect the recommended care pathway, and could mean you avoid having unnecessary tests. There are other conditions that cause fibrofolliculomas, which are associated with different symptoms. e.g. Familial multiple discoid fibroma - there is no cancer or lung symptoms associated with this syndrome, just fibrofolliculomas. Seeing as your kidney scans are clear and you haven't had a lung scan, it could be that you have this rather than BHD. Without a genetic test, it is impossible to tell. There have been two reported cases of patients with Birt-Hogg-Dube also having lipomas. From just two cases, it is not possible to conclusively say that the BHD caused these lipomas, and it may simply be coincidence. I highly recommend that you speak to a healthcare professional with a background in genetics and talk with them about whether or not to get a gene test. The only way to conclusively diagnose BHD is by finding a mutation in the FLCN gene. It is true that sometimes genetic tests are incorrect leading to a false negative result. However, sequencing is done multiple times, inconclusive results are repeated and sequencing technology is so good now that the chances of this are exceedingly small. If the results come back negative, it is most likely that this is because you do not have BHD and can therefore avoid having unnecessary lung and kidney scans. If the results come back positive, then a screening regime can be set up for you in line with the current quidelines. The only life-threatening aspect of BHD is the kidney cancer, but as the tumours are very benign in their behaviour, if caught early (with a properly drawn up screening plan) then they are unlikely to pose a significant health risk. With many thanks and best wishes, The BHD Foundation/Myrovlytis Trust www.BHDSyndrome.org
Alec, Have you checked out the BHD foundation site at www.bhdsyndrome.org/ ? And there is a closed facebook page at https://www.facebook.com/groups/454615147912181/ which you can join, just send a request. It currently has 95 members and is a great source for "talking" with others that have BHD and are dealing with symptoms similar to yours. BHD may affect the skin, lungs, and kidneys. As for a gene test, even though it doesn't change anything, the reason to get it would be if it is positive, it is recommended you get your kidneys screened. Very treatable kidney tumors and cancer is associated with BHD but you have to know it is there to treat it. As BHD is a rare disease, most primary care doctors are not that familiar with it. If there is a genetic doctor and/or genetic counselor in your area you might start there.
Hello, I already suffer from depression because of other health issues which I have. Btw, can BHD be linked to lipomas? Cause I also have many lipomas and my fat tissue generally feels very abnormal. It's totally crude and when I stretch the skin on my chest for example then I can see the uneven fat tissue underneath the skin. I'm sure that this is also abnormal. Anyway, I don't know how to deal with the fibromas. I mean every time I look at myself in the mirror and see how many fibromas I have, and I also feel like they are getting more, I become so totally depressed and feel like everything is senseless. If BHD was something which you at least could not see on your body and which you werent reminded of all the time then it would be so much easier to deal with it. But the fibromas cannot be ignored. I have them on the entite upper body and also have a few ones in the face. I don't know if an increase in fibromas is basically a bad sign but even if it's not then it's still depressing cause of how it looks. To me seeing that the lipomas increase creates a huge fear.It feels like decaying alive. It's a process which I can't stop and which I can do nothing about. This is totally frightening. When I found out about the lipomas I was scared,too, but the lipomas are no way as scary as the BHD fibromas. I haven't gotten a biopsy yet and also no gene test. My doctor told me that the fibromas are fibrofolliculomas and also the areas on the body where I get them totally fits to BHD. I wish there was room for these fibromas being harmless but I really cannot imagine it. I mean what else could cause so many fibrofolliculomas? Should I get a gene test? My doctor told me that he'd not do it cause it doesn't really change anything. And I also read that even a negative gene test is still not 100% sure and that it could be that you simply have a different kind of BHD. I wish I could deal with the fibromas. I hate to take off my shirt or look at myself in the mirror. :(
Alec, That's good news your kidney ultrasounds were clear. Before you put yourself through a lung MRI, it is advisable to get a genetic test if you haven't done so already. Genetic testing is the only way to conclusively diagnose BHD, and if the test is negative, you can avoid unnecessary screening of your lungs and kidneys, as well as putting your mind at ease. If the test comes back as positive, there are both European and American clinical guidelines, meaning that an appropriate screening plan can be drawn up for you by your clinician. Many thanks, The BHD Foundation/ Myrovlytis Turst www.BHDSyndrome.org
Hello, thank you very much for your answers. I have already gotten kidney ultrasounds and they were all normal, but no kidney MRI. Maybe I could get a lung MRI in the future.
Hi Alec, In response to your questions: 1 – you should not worry about any of this until you have a conclusive diagnosis of BHD with a gene test. It could be that your fibrofolliculomas are not caused by BHD, which would allow you to stop worrying about the other manifestations of the disease. 2 – the genes that cause hereditary breast cancer and kidney cancer are different, meaning that they cannot be regarded as the same disease. The most common cause of hereditary breast cancer is mutation of the BRCA1 or BRCA2 genes. As you state, if you have these mutations, there is a high chance of developing breast cancer, which is why patients sometimes opt to have a preventative mastectomy. A number of studies have analysed the risk of developing kidney cancer in BHD, and have found that roughly only 30% of patients with a FLCN mutation will go on to develop kidney cancer. 3 – due to the underlying genetic differences of BRCA breast cancer and BHD-associated kidney cancer, the tumours have different characteristics. Breast cancers can be quite aggressive and are more likely to metastasise and spread in the body, which is usually the life-threatening aspect of cancer. The kidney tumours that BHD patients get are usually very benign in their behaviour. They grow slowly and they rarely metastasise. There are very few reported cases of this particular type of cancer causing a patient to die, whereas mortality due to breast cancer is, unfortunately, not uncommon. In the few cases where a BHD patient has died from metastatic kidney cancer, it is usually because they were not known to have BHD, and by the time they were found to have kidney cancer, the disease was already very advanced. 4 – regarding preventative kidney removal and transplant. Given that the kidney tumours seen in BHD are not very aggressive and are rarely life-threatening, this would not be a sensible or necessary course of action. Mastectomies are performed because breasts are not necessary to support life, and because breast cancer is both aggressive and common, such preventative action saves many lives. On the other hand, kidneys are a vital organ, and the tumours found in BHD are rarely life-threatening. Additionally, transplant organs are not always permanent or curative. It is possible the body could reject an organ at any time, and any patient with a transplant needs to be closely monitored, and sometimes on strong medications, for the rest of their life. Therefore, by removing kidneys and transplanting new ones, in this case it would cause much more harm to the patient than the kidney cancer is doing in the first place. 5 – Regarding other cancers. There are a few other cancers that MAY be associated with the disease. To my knowledge, liver cancer is not one of them. Colon cancer has been reported to perhaps be linked, but a number of studies trying to investigate this have shown this to be inconclusive. Colon cancer is a fairly common cancer, meaning that those with BHD who have also had colon cancer may have been unlucky and developed colon cancer independently from their BHD. Or there could be a link. There are so few cases of this happening, that it is not possible to do meaning research or statistics. At present, the only conclusively linked symptoms of BHD are fibrofolliculomas, lung cysts and kidney cancer. 6 – There is a 50x higher risk of BHD patients developing pneumothorax compared to the normal population, yes. Current estimates show that roughly 25% (or 1 in 4) of BHD patients have episodes of collapsed lung. 7 – Lung CT or MRI to image the lungs would work. CTs do give out small doses of X-ray radiation, yes, so wouldn’t be performed unless it was necessary. However, the chances of a CT scan having a negative effect on your health are very small. Currently, beyond a scan to determine whether or not you have lung cysts, there is no set guideline as to how often to monitor the lungs, so on-going monitoring for the lungs is not performed as often as it would be for the kidneys. Many thanks, The BHD Foundation/ Myrovlytis Trust www.BHDSyndrome.org
Hi, my name is Kate and I was just diagnosed with BHD this past month. I am looking for all the resources I can find so I joined this site. I also use the bhdsydrome.org site, NIH and NORD sites, the VHL Alliance (which had a topic section for BHD) and a closed BHD Facebook group which is easy to join, just ask ( https://www.facebook.com/groups/454615147912181/ ) I found that he BHD syndrome site has the best information for BHD, and the facebook page has the most active discussions. What BHD resources do you find helpful?
FYI: NIH has a great research for BHD and prevalence of renal cancer. They do a great work-up, send results to your PCM. Research results are not readily available to insurance companies. they are protected by law. Look under clinicaltrials.gov and type in BHD on search line. Dr. Linehanm is heading up the research and he will be giving the lecture at 4th BHD Symposium in Cincinnati. Does anyone else with BHD, also have Ehlers-Danlos, mastocytosis, or Dysautonomia complicating their situation??? I'm looking for good advise to better manage these; doctors are not real great at managing any of these problems unless you get lucky and just find one. NIH told me there were really only 2 great physicians in the entire world that can advise us on good wholistic medical care. Hope to learn more at the symposium.
I am new to this site, but not new to BHD. My first pneumothorax Left(collapsed lung) was in 1976, a year before it was decribed in medical literature. It was surgically repaired after 100% collapse X3. In 1989, my R lung collapsed 100% X2, so it was surgically repaired. I did fine until 2008, when I took a bad fall and ripped the repair work loose. The cardiothoracic surgeons told me that it would be more dangerous to attempt a repair now, rather than use high flow O2 for the lung to re-inflate. Once, we develop loculated pneumothoracies, a normal x-ray is not sensitive enough to see them. In 2010, the ER did 4 x-ray, PA/Lateral, inspiratoy/expiratory views. They were all read as negative. It was only because I was so persistent that a CT was done; I had bilateral pneumothoracies. It was only after about 6-8 months of chaos, I was finally diagnosed with BHD. I have chased it through 5 generations of my father's family. My most recent MRI indicates cysts, 4 in each kidney and 1 in my liver.
Cathy, Thank you for the information about BHD. Do you have any references about ultrasounds not being effective for detecting kidney cancer in BHD patients? A member of my family has BHD and our doctor recommend annual kidney ultrasounds. It would be great if we could point our doctor to a medical journal that indicated that this was not the best option. Thanks!
Hello, I'm writing because my husband's family has BHD. BHD has changed our lives, but it hasn't disrupted our plans - just maybe made us think more about how we make choices and how we want to live our lives. People with BHD generally live a long time.They have found 80 & 90 year old people with BHD who had large kidney tumors and didn't even know it- they felt great. The majority of kidney cancers caused by BHD are slow growing and never spread outside the kidney. So far there are 11 identified members in our immediate family who have BHD. (Everyone had the gene test). My husband, brother-in-law, mother-in-law & nephew all have kidney cancer due to BHD. My niece has a spot on her kidney. The other 6, including my 2 children, have BHD, but no kidney symptoms have been found to date. Almost all have the skin bumps - fibrofolliculomas. A cousin (she would be #12) has had a collapsed lung. Everyone in our family has been able to go on with their plans, their vacations, their dreams, their jobs. We wouldn't have chosen to have BHD in the family, but we decided it isn't going to stop us. The idea is to manage your BHD so you can get on with the things you want to do. (Most BHD kidney cancer can be managed , too.) The first reactions we had were fear, anger, disbelief - then probably fear again - but now we have learned to live with it. It's a shock to be sure when you first find out, and it takes time to work out all the feelings. It's hard to believe that you get used to it, but you do. My mother-in-law retired from her part time job at age 75 to take care of my father-in-law, who is actually ill. They had to cut back on travel due to his disease, not hers. She had a kidney removed when she was 69, and has tumors growing in her other kidney. The gene test is, I think, really important. In our family, BHD comes from my mother-in-law's side of the family. Each of her children had a 50% chance of having BHD. Without the gene test, we would not know who needs to be followed & scanned. Not everyone with BHD gets kidney cancer, but so far we don't have any way to know who will and who won't. (Many families never even get the cancer.). Symptoms vary a lot. In our family one person has too many fibrofolliculomas to count, another has 5 and you have to look really hard to see them. Since BHD does put you at risk for kidney cancer, regular scans for the rest of your life are vital. CT scans and MRIs are the only reliable ways to find BHD kidney tumors and cysts. Ultrasound does not work for BHD tumors- it can miss them. If you know you do not have BHD, you do not need any kidney scans at all. So it's important to know for sure - and having the gene test is the only way to know. In our family, kidney cancer was found in my nephew at age 31. My niece, 29, has a spot on one kidney - it's too little to know what it is yet. People who have BHD should have kidney scans approx. every 2 years, starting at about age 21. BHD kidney cancer has been found in people in their 20's. The typical BHD kidney cancer is slow growing, so my nephew's tumor probably started to grow when he was in his 20's. The scan/MRI should show the abdomen and lungs. Normally you would not get x-rays on a regular basis. You should have blood and urine tests as well. If you ever develop cancer, the tests you need may change according to the treatment you may need. Having BHD does mean you should probably not scuba dive, or fly in small unpressurized planes, or do mountain climbing. It could be hard on the lungs, and a really large percentage of people with BHD have the tiny benign lung cysts that could cause a lung collapse. They are hardly ever serious if you do get them due to BHD. There are a lot of doctors who don't know about BHD, or who may have outdated information. When we first heard about BHD, we couldn't find much information. That's when we decided to start the Birt Hogg Dube Family Alliance. We wanted to help people who were in our situation. We've had lots of glitches , especially technical ones, in getting an organization started, but hopefully we are working through the final stages of that.
The Birt-Hogg-Dubé Family Alliance and the Myrovlytis Trust have recently relaunched www.BHDSyndrome.org with the aim of making it the primary resource for BHD patients, families and researchers. Visit now to access further information! We have sections describing the symptoms that are associated with the Birt-Hogg-Dubé syndrome, current methods for diagnosis and treatment, and some tools that may help you, such as an explanatory letter you can print and give family members, a business card sized personal BHD medical card to carry with you, and more. We also encourage you to share your experiences on the forum.
Website that aims to be the first point of reference for anyone interested in BHD syndrome.
|Birt Hogg Dube Family Alliance||
American-based patient organisation - the only known patient organisation for BHD syndrome, globally.
Medical research charity, founded in 2007 in London. Aims to promote research into rare genetic disorders. Focusing initially on BHD syndrome. Activity in its first twelve months includes:
1. Funding several basic research grants
2. Helping to organise the Inaugural BHD Symposium
3. Facilitating the creation of the European BHD Consortium
More information on its website.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Created by Alec | Last updated 23 Sep 2013, 09:50 AM
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.