Discussions By Condition: I cannot get a diagnosis.

Does this sound like fibromuscular dysplasia?

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: FMDmaybe
  • November 28, 2010
  • 08:38 PM

I may have fibromuscular dysplasia. That's the current hypothesis and I'm waiting for results of a CTA, which should -- as I understand it -- tell me definitively, but I understand the symptoms of FMD are often mistaken for something else and it's very rare for this disease to occur in males, anyway (which I am), so even a positive diagnosis shouldn't be trusted.

I am under 40 (39, to be precise). During the last 10 years, I have had two strokes. The second one was much worse than the first. I got to the hospital in time to be administered that clot-busting drug, but it had no effect on me (which makes sense, because the stroke -- as the first stroke before it -- was caused by a dissection, not a clot). I ended up entirely paralyzed on my right side.

For a few years before my most recent stroke, I have also been having problems with erections. The problems began in the last year or two into my marriage (more on that later) with my erections gradually losing potency, to the point that after the second stroke, I haven't been able to become erect at all. Not even a morning erection when I wake up. The problems continued, gradually getting worse, all throughout my separation.

Then I had my stroke (before the impotence was resolved). I understand lowered testosterone can be quite common after a stroke, and that was true with me. I consulted a urologist who prescribed Androgel for a few months. My testosterone level got back into a normal range, but I still had the same erection problems.

Because my marriage was ending, it was hypothesized by several doctors that my problems were more psychological than anything else (leaving alone that the first signs of a problem pre-dated my separation). Although I initially bought this, at this point, I'm convinced that's not correct.

I'm beginning to think there's a connection between my stroke & dissection on the one hand and the impotence on the other. I no longer believe these are independent issues. (I seem to also have a cardiac issue that's causing some concern, but I just found out about it and don't yet know enough to talk about it.)

After a recent evaluation by a specialist (a geneticist) at an academic center, it was hypothesized that I have FMD. They sent me for my recent CTA to make sure.

My question is, does this sound like FMD to anyone? Or does it sound like something else?

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  • Wrong diagnosis postFirst, I must tell you how very sorry I am for what you have been, and continue to go through. Second, I must preface what I am about to say by informing you that I am not a doctor and am in no way professionally qualified to diagnose or treat you. I am only a FMD patient with more experience than I care to have.Having said that... YES, it sounds like FMD.Unexplained stroke, dissection, cardiac arrest and another number of symptoms that you likely will not realize you even have until you hear it from other patients... All fit the FMD diagnosis. Not to scare you, although I must relay, that only just a month or so ago, another patient I know suddenly lost the husband of a good friend following cardiac arrest. Male, same age range. He had been to the ER the week prior with chest pain, which went undiagnosed. At autopsy, he was found to have FMD.Although it seems "uncommon" in men, it seems to becoming more frequent. FMD often goes undiagnosed in any gender because of the extreme lack of knowledge about it. There are several sub-types of FMD and it does not always present as the typical 'string of beads' appearance. Additionally, CT is NOT a definitive method of diagnosis. Angiography is considered the 'gold standard' for diagnosis. Additionally, ultrasound is often used as a preliminary tool for detection. This type of test will often come back indicating a percentage degree of stenosis; ie: right renal artery has 0-59% stenosis. This is also unreliable data. Stenosis can only be accurately measured using a pressure gradient measurement taken from the arterial site.FMD can be present in ANY artery, although the pulmonary artery is currently excluded from this finding. Most commonly, FMD occurs in the renal and carotid arteries. If FMD is found in your carotid arteries (one or both) you MUST be checked for aneurysm in your brain via MRI.It is terrific that you were able to consult with a genetic specialist that was knowledgeable enough to have FMD on his/her radar. There is currently no specific genetic test that will say wether or not FMD may be present, but it's coming. Hopefully, with current research, we will see a genetic ID within the next five years.*I was first diagnosed in early 2000. First found in my renal artery, I now have progressed to bilateral renal, carotid, mesenteric and aortic. I have symptoms of stroke such as facial and eye droop, partial paralysis, severe head pain and speech issues with these episodes several times a month. I quit going to the ER every time I have these episodes, since they never get appropriately treated anyway.My recommendation is to continue seeking answers at a GREAT teaching hospital with a vascular specialist. Learn as much as you can and don't allow the doctors to bully or steamroller you! You have been through too much... You MUST DEMAND answers.It is so heart wrenching when FMD goes so far undiagnosed until a severe medical emergency such as stroke and dissection occur. Even then, it may not be appropriately treated. Stenting is one such example. They are typically NOT protocol except in specific circumstances. If stents are mentioned to you as a form of treatment, I urge you to contact an FMD specialist, such as Dr. Jeffrey Olin at Mount Sinai in New York for consult.Massachusetts General has a great FMD program as well, involving multiple disciplines and specialists to treat patients. (there are other facilities as well but you didn't mention your location).If you don't have one already, invest in a digital blood pressure cuff and monitor your BP's at least twice a day and keep a log. There are some medications available to help keep things under control and assist in minimizing the potential damage. This should be discussed with your doctor. If you find that you are on three different BP meds and your numbers are still high, intervention my be needed.I hope this helps a bit. Best of luck...
    Anonymous 42789 Replies
    • December 3, 2010
    • 09:31 PM
    • 0
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  • Thanks. I kept on meaning to reply since you posted this, but I got sidetracked. And then I posted yesterday only to have the system tell me I had been timed out when I tried to post it and I lost the post. On Tuesday, I'm going in for an angiogram. Don't know if that's the same thing as an angiography. But during the consult, the doctor said that it was very possible that signs of FMS were missed during my CTA scan. In any event, he's going in on Tuesday, so we should know for sure. I'm in Wahington, DC, so NYC is very do-able for me. I had already planned on setting an appointment with Dr. Olin at Mt. Sinai if it turns out I have FMD. I'm really anxious for this test. As hard as it may be to believe, I'm actually hoping to have FMD. One way or another, somthing messed up is happening with my body. I've had two strokes and been partially paralyzed without knowing why. I'd just like a diagnosis at this point so we can begin treatment/coping with it. But your post was very helpful, thanks. I read it as it came in, and I thought writing all of that up was a long way to go for somone you never met, and it helped a lot, so thanks.
    FMDmaybe 2 Replies
    • December 8, 2010
    • 03:06 PM
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  • Hello FMD Maybe....Wanted to follow up and see how your angio went. Was hopeful you may have got some answers...yes?I can certainly relate to your comment about 'hoping' to have FMD. After so many things begin to fail us and our bodies, we get desperate for answers. But, I want to tell you that, unfortunately, an FMD diagnosis will only result in another long list of questions. I have met and spoke with many patients and am an active advocate in our FMD community. From this experience I have learned a few things... In my opinion, although FMD is different for everyone, there seem to be two types of patients; the group that has FMD with no real progression or effects, who live their lives with few lifestyle changes... Then, there are those of us who this disease has it's presence know in every aspect of life, the ones it seems to attack! The list of never-ending, bizarre symptoms that seem to be unexplainable. Dr. Olin says "once FMD, always FMD". Once you have the diagnosis, your life may take a path unexpected. I know you have been through a lot... But there is so many more facets to FMD than you can fathom. Many of us share symptoms with our cousin EDS, Ehlers Danlos. And despite test after test, we continue to come out clean on paper. It's terribly frustrating when all those diagnostics come back negative or (my personal favorite) "clinically insignificant". Honestly, it can make you feel crazy! It can get frustrating when you KNOW something is wrong with you body, but nothing can be done. There are NO set protocols for treatment of FMD, only symptom management and treatment for those 'events', like stroke and dissection, when and if they occur.I very much hope you to get the answers you need...BTW, Im the same age as you.. If you would like to discuss more outside this public forum, I am happy to... We have much in common!Best of luck, please post an update :)
    Anonymous 42789 Replies
    • December 18, 2010
    • 04:38 PM
    • 0
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  • Well, they didn't find any FMD with the angiogram. Granted, the FMD might be in a place the doctor wasn't looking. The doctor was only looking at my pelvis, but one of the arteries there experienced significant narrowing; enough so that the doctor did an angioplasty while he was in there. I would guess the narrowing was caused by whatever I have; the doctor found the narrowing, but not FMD. Is FMD sometimes difficult to diagnose even with an angiogram? The more I read about FMD (granted I shouldn't believe everything on the internet), the more it seems like I'm afflicted. But some good doctors are finding in the negative. I know there are different forms of FMD, some with a beaded appearance in the artery and some without. Is it possibleI have a rarer form that's difficult to spot? Whatever the case, I'm not giving up. I can't. The narrowing of my blood vessels is progressive, not static. They're getting smaller. At some point, left untreated, I'll probably have another stroke or a heart attack.Next month I'm going to the Mayo Clinic to see what they can make of this. I've been gathering all my medical reports and film. There are a lot of doctors, so there's a lot of legwork. After Mayo, I'm supposed to go to the Cleveland Clinic and see Dr. Heather Gornik (I think is her name; I can't be bothered to look it up). She's apparently some kind of sopecialist in FMD. I'd like to see Dr. Jeffrey Olin, but repeated attemps at getting in touch with his office has proven unfruitful. I'll try again after the holiday. A side note: During the angiogram, the doctor performing it noticed narrowing of the pudenal arteries. This probably explains my sexual problems. Because the doctor had no orders on how to treat them, he left well wnough alone, but apparently only one seems like a viable candidate of angioplasty. They apparently can't get to the other or something, and I may need a by-pass-ish operation. I'm waiting to talk to my urologist about this. BTW, what do I call you?
    FMDmaybe 2 Replies
    • December 23, 2010
    • 11:01 PM
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  • Sorry it's taken so long to reply. I had checked a few times and hadn't seen a response, so I was hoping that your procedure went well and may have resolved some of your issues. Unfortunately, it sounds like that was not the case.The primary (most common) area to look for FMD would be the renal arteries. Given the symptoms you have described, (based on my personal experience) as a patient, I would want (DEMAND) my carotids and aorta checked as well.*The current order of diagnostics for FMD are as follows:1) duplex ultrasound: this can preliminarily illustrate if there is a flow/velocity issue. Only rarely can the "beaded type" FMD be actually visualized using this tool.As a side note, you really need to have an ultrasound tech that is trained in FMD and what to look for for this to be somewhat informative.Unfortunately, if you get results back that say something like 0-49% stenosis, it's not accurate when FMD is suspected.The ONLY way to know this is by measuring the pressure gradient of the artery during an angio. This requires a specialist that knows how to do this!(if you only take away one thing from this info, THIS should be it!)2) MRI/A: *although this used to be considered the "gold standard" in FMD diagnostics, that is no longer the case, as some types cannot be seen on a radiology report. My experience has taught me that you MUST have an FMD trained physician or radiologist review this test. Personally, I would NEVER trust the radiologist roulette wheel at the local hospital to be competent enough to make a diagnosis. (unless your local hospital is Mt. Sainai in NY, Mass General or Mayo)3) diagnostic angiography: this is the new gold standard procedure for diagnosis.It may very likely include an Intra-Vascular Ultrasound (IVUS).My feeling is that the IVUS should be done on EVERY patient know to have a history of FMD, and/or is strongly suspected.There are several types/ classifications of FMD, these include:Medial Fibroplasia- "string of beads" type.Intimal Fibroplasia: Band- like constriction causing concentric stenosis or a long tubular lesion. (this may sound like what you described)Perimedial Fibroplasia: less numerous, smaller beadsMedial Hyperplasia: *Extremely rare, requires specimen for diagnosisAdventitial Firbroplasia: diagnosed by Intra- Vascular ultrasound and appears similar to intimal type.Although the most common type is Medial Fibroplasia of the Renal Arteries, either one or both, it is possible to have more than one type.You have made a good start by going to Mayo. I have personally not been there, but know many patients that have and are very comfortable with their team.*I have however been to Cleveland Clinic and have seen Dr. Gornik.Unfortunately, I did not have a very good experience with her, which I will not discuss in a public forum.There is a list available of physicians at various hospitals (Mayo, Mass Gen, Cleveland Clinic, UC Davis and a few more) that specialize in treating FMD.If you see the right set of doctors at Mayo, you should be able to receive an accurate diagnosis, FMD or not. Mayo (Rochester, Minnesota) is a very well respected teaching hospital which provides world class care.I would rather not put (more) fear or doubt into your head with some of my experiences. But I will say this... I have seen many of the specialists at several highly respected facilities.... It's been (and continues to be) a daily battle to get my heart and head on the same page when it comes to believing what many of them have said.You have only recently begun down this path. You must decide how much of your life you are willing to commit to getting the answers that YOU want to hear.Is it worth it to just keep jumping from specialist to specialist, hoping the hypothesis is proven? Even if it is, FMD is NOT (currently) a curable disease... The medical/research community still has no clue about how or why people even have this disease. It has even been suggested that FMD is merely a symptom of a much larger disease, a form of Ehlers-Danlos. Research to support this is currently underway at the NIH. Many FMD'ers share overlapping connective tissue/EDS symptoms.I only ask because the most difficult thing about having this diagnosis, for me personally, is the constant struggle between what my body is telling me and what the doctors say. It's so hard getting up every day knowing and feeling your body slip out of your control, loosing the grasp you once had as it slowly but strongly nibbles away at the strength you once had, both physically and emotionally.i think I may have given waaaaay too much information.Sorry, didn't mean to put you on overload, if I have done so ;)BTW,Has anyone suggested that you might have symptoms of EDS Vascular?Again, hope this helps. Best of luck.PS- you can call me Grace.
    Anonymous 42789 Replies
    • February 4, 2011
    • 04:53 PM
    • 0
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  • Oh, and BTW...Of ALL of the doctors I have seen, Jeff Olin is still the ONLY one I trust...He might as well be "the Godfather"! The supreme voice on all things vascular.Let me if you would like access to the physician list, I will figure out how to get you to it and Dr. Olin's latest published paper on FMD, hot off the press!Best of luck.Grace
    Anonymous 42789 Replies
    • February 4, 2011
    • 05:14 PM
    • 0
    Flag this Response
  • Sorry it's taken so long to reply. I had checked a few times and hadn't seen a response, so I was hoping that your procedure went well and may have resolved some of your issues. Unfortunately, it sounds like that was not the case.The primary (most common) area to look for FMD would be the renal arteries. Given the symptoms you have described, (based on my personal experience) as a patient, I would want (DEMAND) my carotids and aorta checked as well.*The current order of diagnostics for FMD are as follows:1) duplex ultrasound: this can preliminarily illustrate if there is a flow/velocity issue. Only rarely can the "beaded type" FMD be actually visualized using this tool.As a side note, you really need to have an ultrasound tech that is trained in FMD and what to look for for this to be somewhat informative.Unfortunately, if you get results back that say something like 0-49% stenosis, it's not accurate when FMD is suspected.The ONLY way to know this is by measuring the pressure gradient of the artery during an angio. This requires a specialist that knows how to do this!(if you only take away one thing from this info, THIS should be it!)2) MRI/A: *although this used to be considered the "gold standard" in FMD diagnostics, that is no longer the case, as some types cannot be seen on a radiology report. My experience has taught me that you MUST have an FMD trained physician or radiologist review this test. Personally, I would NEVER trust the radiologist roulette wheel at the local hospital to be competent enough to make a diagnosis. (unless your local hospital is Mt. Sainai in NY, Mass General or Mayo)3) diagnostic angiography: this is the new gold standard procedure for diagnosis.It may very likely include an Intra-Vascular Ultrasound (IVUS).My feeling is that the IVUS should be done on EVERY patient know to have a history of FMD, and/or is strongly suspected.There are several types/ classifications of FMD, these include:Medial Fibroplasia- "string of beads" type.Intimal Fibroplasia: Band- like constriction causing concentric stenosis or a long tubular lesion. (this may sound like what you described)Perimedial Fibroplasia: less numerous, smaller beadsMedial Hyperplasia: *Extremely rare, requires specimen for diagnosisAdventitial Firbroplasia: diagnosed by Intra- Vascular ultrasound and appears similar to intimal type.Although the most common type is Medial Fibroplasia of the Renal Arteries, either one or both, it is possible to have more than one type.You have made a good start by going to Mayo. I have personally not been there, but know many patients that have and are very comfortable with their team.*I have however been to Cleveland Clinic and have seen Dr. Gornik.Unfortunately, I did not have a very good experience with her, which I will not discuss in a public forum.There is a list available of physicians at various hospitals (Mayo, Mass Gen, Cleveland Clinic, UC Davis and a few more) that specialize in treating FMD.If you see the right set of doctors at Mayo, you should be able to receive an accurate diagnosis, FMD or not. Mayo (Rochester, Minnesota) is a very well respected teaching hospital which provides world class care.I would rather not put (more) fear or doubt into your head with some of my experiences. But I will say this... I have seen many of the specialists at several highly respected facilities.... It's been (and continues to be) a daily battle to get my heart and head on the same page when it comes to believing what many of them have said.You have only recently begun down this path. You must decide how much of your life you are willing to commit to getting the answers that YOU want to hear.Is it worth it to just keep jumping from specialist to specialist, hoping the hypothesis is proven? Even if it is, FMD is NOT (currently) a curable disease... The medical/research community still has no clue about how or why people even have this disease. It has even been suggested that FMD is merely a symptom of a much larger disease, a form of Ehlers-Danlos. Research to support this is currently underway at the NIH. Many FMD'ers share overlapping connective tissue/EDS symptoms.I only ask because the most difficult thing about having this diagnosis, for me personally, is the constant struggle between what my body is telling me and what the doctors say. It's so hard getting up every day knowing and feeling your body slip out of your control, loosing the grasp you once had as it slowly but strongly nibbles away at the strength you once had, both physically and emotionally.i think I may have given waaaaay too much information.Sorry, didn't mean to put you on overload, if I have done so ;)BTW,Has anyone suggested that you might have symptoms of EDS Vascular?Again, hope this helps. Best of luck.PS- you can call me Grace.
    Anonymous 42789 Replies
    • February 5, 2011
    • 08:03 PM
    • 0
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