Hello! I have a question about BHD and cancer risks compared to other genetical disorders which also increase the risks of cancers. I'm also worried about BHD. I am 30 years old and I have very many fibrofolliculomas on by upper back. My dermatologist told me that they are fibrofolliculomas. He told me that getting a gene test wouldn't be good cause it wouldn't help me and would only be negative cause then finding a health insurance would be much harder. So far I have only gotten a kidney ultrasound every 1-2 years by my intern. I don't really know what I should do. I also fear getting a gene test. In my opinion there isn't much room for me not having BHD since I have so many fibrofolliculomas. I saw a documentary about breast cancer in women and certain gene aberations which cause the breast cancer risk to be 70% higher and many women who have this aberation decide to get their breasts removed. But 70% isn't really that much. People with BHD have a much higher risk than 70%. Does this mean that if it was possible to get your kidneys removed that people with BHD should get them removed because of the cancer risk? I mean if a 70% higher risk is enough reason to get your breasts removed then what about people with BHD? Would doctors recommend them to get their kidneys removed, if it was possible to remove them and then get transplants to reduce the cancer risk? Watching this documentary and hearing that women get their breasts removed because of 70% really depressed me and made me think of how much higher the risk in BHD people is.

The probability is only 16-30% for someone with bhd to get kidney cancer, much lower than 70%. And monitoring of kidneys will find tumors, which are usually slow growing if present. Partial nephrechtomie tumor removal may be done when tumors are larger than 3 cm . You need your kidneys, and with monitoring bhd patients keep theirs and can live a ful life AND the vast majority of bhd patients never get kidney cancer. You may want to check out bhdsyndrome.org, my previous post about resources.and the closed bhd Facebook page for information and support.

Hello Kate, are you absolutely sure about the 30%? And are there not also other cancers associated with BHD like liver and colon cancer? And what about pneumo thorax? I think I read that BHD sufferers have a 50 times higher risk. I don't know how dangerous this is. Can you die from this? I'm really depressed because of this. I don't even know if it makes much sense to try to live healthy when you have BHD. I mean usually you think that living healthy can reduce the risk of cancer but I doubt that eating healthy foods can do much about BHD induced cancers. :( I also can't get lung MRIs and kidney MRIs every year to see if there is anything going on. This would be much too expensive. At best I could get maybe 1 lung MRI to check the current status but if I want further MRIs my insurance will want to know why and since I haven't had a gene test I can't even prove if I have it or not and I also don't want a gene test. But since I have so many folliculomas the thing is pretty much clear to me. I have them in exactly the areas where they occur in BHD. I think my father also has some in his face but he has never had lung problems and also no kidney tumors.

ps: Would a lung MRI even work? Or would you need lung CTs? Cause getting lung CTs is also very unhealthy because of the radiation. This is definitely nothing which you can do on a regular basis.

BHD is a manageable disease and in no way shape or form a death sentence. If you are worried about your lungs do not scuba dive or fly in UNpressurized airplanes as if you have lung cysts as it is the change in pressure could cause them to break or leak which causes the collapsed lung. Know the symptoms for collapsed lung so you know when to seek medical help. Go to www.bhdsyndrome.org for information. The 30% is from there and was from a study. The site has a great patient resource area you can check out. Also think about joining the closed Facebook page so you wol feel less alone and have some support to deal with bhd. Finally we are working on a BHD handbook so information will be all in one place in a patient friendly form. Pardon my spelling and grammar but the spell check on my kindle keeps changing what I type.

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

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.

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