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How to deal with the fibromas?

Alec Message
20 Sep 2013, 05:07 PM

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. :(
kate462 Message
21 Sep 2013, 08:14 AM

Alec, Have you checked out the BHD foundation site at‎ ? And there is a closed facebook page at 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.
myrovlytistrust Message
23 Sep 2013, 10:27 AM

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