Chapters Transcript Fibromuscular Disease I am absolutely delighted to be at the 2020 Stroke Conference and 15th Neuroscience Nursing Symposium to kick off our session on fiber muscular dysplasia. My name is Dr Heather Gornick and I'm, co director of the Vascular Center at the Harrington Heart and Vascular Institute here at University Hospitals, where I also direct our FMD program. My primary disclosure relevant to this program is that I'm a proud member of the medical advisory board of the FMD Society of America, about which you'll be hearing a lot more later from its executive director, Pamela Mace. I'd like to kick off this lecture by introducing you to a few of my patients. This first patient is missing. Um, she's a 38 year old emergency room nurse who awoke one morning after a long gear shift with an excruciating headache. She noticed unequal pupils in the mirror. She went to the emergency room, where her blood pressure was noted to be 210 over 130 millimeters of mercury. After some significant delay, she was ultimately diagnosed with bilateral carotid and vertebral artery dissections and ultimately went on to be treated with bilateral carotid stenting for carotid narrowing and pseudo aneurysm formation. She was also found to have renal artery FMD. Here's the classic string of beads of multifocal renal artery FMD of Miss M. And I also want to give a spoiler alert that MSM has done incredibly well in terms of health and life. And you'll be hearing from her a little bit later in the session as she is the executive director and one of the founders of the FMD Society of America. Next, I'd like to introduce you to Miss Ellen Miss J. As you can probably tell, these ladies are identical twin sisters. Miss l was diagnosed with FMD after presenting with retinal ischemia, or Amoros ISS. Her sister, Miss J was found to have a carrot brew we and was diagnosed with a carotid artery stenosis. Miss J came toe FMD clinic for an appointment with her sister and me, which got us all rethinking. Both sisters were ultimately diagnosed with multi vessel multifocal FMD and small aneurysms, inter cranial and splenic. And as you can see here, here are there near identical strings of beads of the internal carotid arteries, as seen on C t angiography. With that background Let's Dive in. F. M. D is a non athletic, erotic, non inflammatory disease of medium sized arteries. It is not felt to involve the veins. The pathogenesis and genetics of fiber musket dysplasia remain uncertain. The recent advances, especially with regard to genetics, have been made. It's also felt that hormonal on mechanical factors likely also contribute to the pathogenesis of FMD. FMD causes a broad spectrum of arterial lesions, including stenosis of the multifocal type is shown here in the renal and carotid artery occlusion tortuous ity as shown here on a carotid duplex of a S curve in the internal carotid artery aneurysm and dissection. The prevalence of FMD is unknown. It is currently recognized by the National Organization of Rare Diseases as a rare disease, which means it affects fewer than 200,000 Americans. But those of us in the field feel it's likely under detected or the next few minutes we're going to review some key aspects of care for patients with FMD, and I wanna introduce you to this document, which was the first international consensus on FMD published last year in conjunction with the European Society of Hypertension in the Society for vascular medicine. This is really a comprehensive document on the latest unknown science of FMD diagnostic approach and treatment, and I refer you to this document for more information. After my lecture, I want to take a moment to talk about the modern nomenclature for FMD because this is something that has recently changed. Multifocal FMD or the string of beads. Type is the most common type of FMD, seen in 90% or more of cases and has shown here involving the renal and internal carotid arteries. This was previously known as medial fibra play Jha. In contrast, shown on the lower half of the screen is focal FMD, which represents a minority of adult cases of FMD but is more the more common type in the pediatric population. This was previously known as Internal Fiber play Asia but is now called Focal FMD, and importantly, this is infrequently associated with dissection. Unlike multifocal FMD, this is focal FMD on the bottom involving the renal and internal corroded arteries. Actually, the first point of the international consensus document waas that arterial lesions of FMD should now be classified according to this and geographic appearance as focal FMD or multifocal FMD, so please use this nomenclature when describing your patients. Imaging. One of the things I find so fascinating about fiber muscular dysplasia is its variable range of clinical manifestation, and shown here on the slide are most of the symptoms with which FMD can manifest, and the symptoms of FMD depend upon. The vascular bed involved the severity of narrowing and other factors, such as whether there's been dissection or aneurysm for renal FMD. The most common symptom, as you'd expect, is hypertension. But this can also present with abdominal brew we a renal artery dissection or infarction. Renal artery aneurysm Patients with isolated renal FMD can actually have migraine headaches, and this can also be an incidental finding on an imaging study. The focus of this symposium Cerebral vascular FMD, can also present in diverse ways, including cervical brew. We headaches again, especially migraine type, transient ischemic attack or stroke, which we'll discuss later. Cervical artery dissection, pulse a tal tinnitus or swooshing noise in the ears that times to the heartbeat. Oh, or an incidental finding on an imaging study and then FMD at other sites can present in different ways. FMD and the extremities can present with arm or leg. Claude Occassion Patients with FMD can present with a myocardial infarction due to spontaneous coronary artery dissection called SCAD and FMD, involving the visceral arteries can present with chronic mezza Terek angina with weight loss or mesen. Terek Artery dissection Much of what we've learned about FMD over the past decade has come from registry data, particularly from the United States Registry for FMD, of which I've been very proud to be a part over the next segment of the talk, I'm going to be sharing some information with you about the clinical features of FMD and some data from the U. S. Registry. There's also an international and European registry, and I'll be sharing some snippets of data from that as well. The United States Registry is sponsored by the FMD Society of America. You'll be meeting Miss Pamela Mason, executive director in a bit and, um is currently enrolling actually a 17 clinical centers. As you can see on the slide, the US Registry for FMD began enrollment in 2009 and has had increased enrollment ever since. As of a few weeks ago, there are now nearly 3000 patients enrolled in the U. S. Registry for FMD. We're hoping to hit that mark within the next month or so, and we have follow up data available for greater than 76% of patients enrolled for more than one year. So who is the typical patient with FMD? Well, data from our US registry could be very helpful. 91% of patients are female. Men do represent a minority of patients in the registry, but they have a twofold higher rate of aneurysm and dissection. So that's a very important subset. 65% of women are post menopausal at the time of enrollment. Onley, 7.3% have a first or second degree relative with FMD. But interestingly, almost a quarter have a family history of aneurysm, and over half have a family history of stroke. The average age of diagnosis of FMD is 52 years, and the average age of symptom onset is about 47 years. That means there's on average, about a five year delay in diagnosis of this condition. We've also learned that patients who are diagnosed at an older age such a 65 plus have a more benign course with fewer dissections and vascular procedures. So with that background, I'd like to spend the rest of my talk going over six key things that I think all of you, every Neurosciences professional should know about. FMD number one FMD is ahead to thigh arterial pithy. This condition was historically viewed primarily is a renal artery disease in the domain of the nephrologist and urologist. Due to data from the U. S. And European international registries, this paradigm has really shifted. We now know that cerebral vascular, carotid and vertebral FMD is as common as renal FMD, and 65% of patients with renal FMD will have cerebral vascular FMD if imaged and vice versa. We've also learned that over half of patients with FMD have involvement in multiple vascular beds. So in addition to the renal and carotid and vertebral arteries, other common sights of FMD are the celiac and esoteric arteries. The leg arteries, especially the external iliac. The intracranial arteries primarily manifest is intracranial aneurysm. The aorta again primarily manifest is aneurysm. The coronary arteries manifesting is coronary dissection and the arm arteries, primarily the break your arteries. Number two, it's important to know how FMD is diagnosed it's diagnosed by imaging. There is no blood test for FMD and tissue for history. Pathology is very rarely obtained, even at the highest volume. Clinical centers such as our own in 2020 catheter based angiography remains the diagnostic gold standard for both renal and cerebral vascular FMD. And there are cases where we sometimes do need to go to catheter angiography, where the diagnosis is uncertain. A noninvasive imaging, That being said, we have excellent noninvasive imaging options, including duplex ultrasound for certain areas, M R angiography and CT angiography. There's little comparative accuracy data for the best noninvasive imaging modality, and this is an area ripe for research. So the choice of test depends on the location of the body to be imaged the availability of modalities and institutional experience. Our go to modality for diagnosis of suspected carotid FMD is generally duplex ultrasound. What we're looking for here are classic features of turbulent blood flow and elevated velocities, usually in the mid two distal internal carotid artery, not at the vessel origin like Afro Sclerosis. And you can see on the upper panel here turbulence in the distal internal carotid artery and an elevated peak systolic velocity of 223 centimeters per second. We often see no plaque or a Doppler abnormality out of proportion to any plaque visualized. In some cases, you can actually see classic beating of multifocal FMD with techniques such as color power. Angiography is shown on the lower panel or be flow, which I'll show you in a moment. Very importantly, we do not use the percent stenosis categories for either curated or renal FMD, as these were developed for Afro sclerotic disease. Shown here are some beautiful images of classic multifocal beating of internal carotid artery FND scene with color power in geography and a technique called be flow and are technologists. Take a lot of pride in generating these very illustrative and really beautiful ultrasound images of the multifocal FMD. Ultrasound is definitely not perfect for assessment for curated FMD, however, and I want to share with you this illustrative case. This'll was a 49 year old woman who had multiple TIAs and a quote Normal carotid duplex study. It was really red is, at the time, 0 to 19% stenosis or normal examination. She ultimately went on to noninvasive imaging and then angiography because of her symptoms, and she was found to have a right internal carotid artery, pseudo aneurysm from a prior dissection with unassociated stenosis and a focal web in the left internal carotid artery. And basically, her case really illustrates an important principle that for suspected corroded FMD in any symptomatic patient, you really need to get cross sectional imaging and carotid duplex is likely not enough. Similarly, for patients with suspected vertebral disease or intracranial disease or cerebral vascular dissection, you really should go right away to see TA or M R A rather than duplex ultrasound. This is a CT angiogram of an older patient of mine with karate FMD, but it actually illustrates another concept, which is. Patients with FMD can also have concomitant Afro sclerotic disease. So this patient who was having some neurologic symptoms actually had a high grade, likely Afro sclerotic lesion confirmed on duplex and then more distal beating in the internal carotid artery as well as Act Asia. And she had bilateral disease. But you can see here in the right internal carotid artery, a very high grade Afro sclerotic lesion, plus FMD, so patients with FMD get atherosclerosis to the third important concept to pass along to you is the link between FMD and stroke. FMD is recognized as a cause of stroke, especially stroke and young patients. However, it's important to know that the majority of patients with FMD will never have a stroke. In most recent data from the U. S. Registry, about 10% of patients have had a history of stroke and about 12% a history of TIA. It's also important to understand the mechanisms of stroke among patients with F empty. In my clinical experience, the most common mechanism of stroke is cervical artery dissection, either the karatedo vertebral arteries, followed by a hemorrhagic stroke either related to an aneurysm, rupture, hypertension and less commonly presumed M. Bolic event. It's very uncommon toe. Have a patient with multifocal FMD who of the carotid arteries who is on anti platelet therapy have a nem, bolic, tia or stroke. It's also important to know there's no role for created a vertebral artery intervention to prevent stroke among asymptomatic patients with multifocal FMD and I have patients who have followed for years with extremely high velocities on their ultrasounds and the 304 hundreds. But they've been entirely symptomatic, and they've done fine on anti platelet therapy. Patients with FND, especially older patients, may have concomitant Afro Socratic diseases you saw in the last case and traditional risk factors for more traditional types of stroke. The next key lessons learned is that FMD can be a bad actor In the United States registry, about 42% of patients have had one or more arterial dissections or an aneurysm. And if you break this out specifically by dissection and aneurysm, about a quarter of patients have had at least one arterial dissection, uh, the most common sites being the extra cranial, carotid artery and vertebral arteries. And you can see on the slide less common sites. About 22% of patients have at least one arterial or aortic aneurysm are the renal artery is the most common sight, followed by the extra cranial, curated and intracranial arteries. Based on these data are clinical practice has really evolved, and we now recommend per the international consensus one time brain to pelvis cross sectional imaging with C T A or M R A. For all patients with FMD, regardless of the initial site of disease. And that is to screen for a cult aneurysms and presumably dissections. A few words about cervical artery and FMD, the carotid and vertebral arteries of the most common sights of dissection. Among patients with FMD, as you saw from the registry and among patients with cervical artery dissection, all comers who were screened brain to pelvis with CT angiography. This was in a Polish Siri's. It was found that about 40% had underlying FMD in one or more vascular areas. So clearly, among all patients with cervical artery dissection, FMD is an important cause. Cervical dissection causes significant morbidity in our patient population not only stroke but also chronic headache syndromes. The management of civic artery dissection for patients with FMD and without FMD does not differ. It's generally medical therapy, anti coagulation or anti platelet therapy, controversial subject monitoring and intervention In Onley selected cases. It's important to note that patients may present with cervical artery dissection, but on Lee have the classic beating of FMD, or focal FMD lesions in other vascular beds or in non dissected arteries. And I think Miss M is a great case of that with carotid and vertebral dissections. But this classic stream of beads seen in the right renal artery. It's also important to note that arteries that have dissected can heal with a beaded appearance that can mimic FMD. And sometimes this can be difficult to distinguish from primary FMD. Our rule is to not diagnose FMD on the basis of beating in a dissected segment alone. And finally, it's important to recall and know that not every woman with cervical artery dissection has FMD, and I'm going to share with you a few cases. This is a 34 year old woman who was referred to see me for fiber muscular dysplasia. She had a left internal carotid artery dissection with a prominent pseudo aneurysm, as seen on the right and a large subclavian artery aneurysm. She did not have FMD. She was ultimately diagnosed with an FMD mimic. Lois did syndrome with a mutation of the T Jeff beta receptor, too. This is another woman who presented with severe headaches, personality change and bilateral M. C. A. In FARC's, and she was ultimately found to have bilateral internal carotid artery dissections. As shown here on catheter angiography, she had no FMD below the neck or in the rest of the vessels, and she truly had idiopathic cervical artery dissection. Even though she is a woman in middle age, I would not label her is having FMD as well as the association with dissection. I want to mention cerebral aneurysm as an important association with FMD in the U. S. Registry, almost 13% of patients who underwent intracranial imaging had an intracranial aneurysm, and among those patients with aneurysms, over half had multiple aneurysms, and 43% of aneurysms were five millimeters or greater ah size at which repair may be considered. All patients with FMD should be screened for intracranial aneurysm, and this is definitely covered in our recommendation for brain to pelvis image ing in the international consensus. Um, it's important to screen for brain aneurysm, regardless of the initial site of FMD. Management of intracranial aneurysm depends on the aneurysm size, location, posterior anterior circulation, an additional risk factors such as family history of rupture and whether or not blood pressure is controlled. For these patients, collaboration with neurosurgical or neuro interventional colleagues is absolutely key. We have a great team at U H, and we have many options for these patients in additional. In addition, to the traditional open clipping. We now have terrific and a vascular techniques for many, if not most, of our patients, including coiling and pipeline and other flow diverting stents. The next core concept is that patients with FMD have other important symptoms that impact quality of life. Not only the risk of stroke, cervical artery dissection or aneurysm headache is incredibly common among our patients. Over two thirds of patients in the U. S registry reports significant headaches, about a half of which are characterized as of the migraine type. Almost 11% reported headaches that were associated with men seize, and almost 15% required suppressive medications for headaches. Among those in the registry who reported on frequency of headaches, they were infrequent in less than half and about daily and weekly, Um, for each a quarter of the population. Factors associated with headache in FND include not surprisingly corroded or vertebral involvement. History of cerebral vascular aneurism or dissection pulse. It'll tinnitus also associate with carotid and vertebral FMD dizziness. In a history of depression or anxiety, headache management is a very important part of care for patients. With that from D, we recommend against Trip 10 uses an abortive agent for these patients, given their Veysel constructive properties and case reports of arterial dissection. The C G R P receptor inhibitors have been a major advance for our patients, and anecdotally, in my practice seemed to be well tolerated and helpful. Pulse. It'll tinnitus or that wish time to the heartbeat is a very common symptom among patients with FMD in the U. S. Registry, about a third of patients reported Pulse It'll tinnitus, which was associated with karatedo, vertebral FMD, cervical artery dissection, headache and neck pain. Pulse. It'll tinnitus often comes and goes and varies depending on ambient noise level, head position and sometimes simple things like whether or not the patient has Sinus infection or or another upper respiratory tract infection and congestion. Ah, louder or softer subjective pulse. Attell Tinnitus does not seem to correlate with any clinical outcome. Treatment of pulse. It'll tinnitus and generals reassurance, telling patients it's not a marker of disease severity or a sign that they're going to have a stroke. That's certainly not the case. In some cases, we use white noise devices, and biofeedback and other therapies can be helpful, And my practice, I've anecdotally observed that patients awareness of Pulse Attell tinnitus tends to fade over time. And actually shown here is my husband, Dr Tim Gilligan, who is showing support for my patients with FMD with a T shirt from a terrific online patient information site and support source for patients with pulse. It'll tinnitus called ushers dot com. The last thing I would like to leave you with is just a general overview of how to treat FMD. First of all, we have key principles as the treatment plan is developed. One we need to make sure the diagnosis is correct. There can be overlaps and mimics of FMD. Two f m. D is a chronic medical condition, and there is no cure. So we're creating ah, longitudinal care plan three. We need to determine what symptoms air due to FMD versus other health problems. Occam's razor does not always apply, and please and caring for these patients avoid the trap of attributing all symptoms. Toe FMD. It's not usually your quote. FMD acting up for patient education is vital. We review the warning symptoms and signs of dissection t a stroke and heart attack at our visits, and we make sure patients understand that they may need to educate the ER and other providers about their disease. Medical therapy is important for patients with FMD. It is recommended by the international consensus that in the absence of Contra indication all patients with FMD beyond an anti platelet agent there needs to be more research in the years to come to provide an evidence based to support that. But it is standard clinical practice, especially for carotid and vertebral FMD. Blood pressure control is important ACE inhibitors and angiotensin receptor blockers, our first line agents for those with renal FMD, as previously discussed, We need to manage headache and pulse. It'll tinnitus. And then we put our patients in an image ING program. We get our one time brain to pelvis imaging as recommended by the consensus, and then we make a plan for surveillance of effective vascular beds. Um, the the rate of disease progression of beat it and still not IQ lesions is generally quite low, and for many patients, surveillance could be done less often than annually. Um, imaging surveillance can often be accomplished with duplex ultrasound, especially for carotid and renal FMD and some of the other sites But certain areas may require surveillance camera or SITA, such as for intracranial aneurysms or renal aneurysms, and they're monitoring in terms of interventions. It's important to know that referral for intervention in most cases is driven by symptoms, not lesions. For renal FMD, this is poorly controlled, a recent onset hypertension and for cerebral vascular FMD, this is rare cases of cerebral hypo profusion, certain dissections or recurrent neurologic events. Despite anti platelet therapy, aneurysm treatment is an exception. Sizable but asymptomatic aneurysms may require treatment, and, of course, advances and endovascular technologies have really revolutionized theater. Pro church to intracranial aneurysm. Aside from management of the section aneurysm and the unlikely acute stroke, the need for intervention for multifocal or focal karatedo vertebral artery FMD is rare. As I close, I'd really like to emphasize that FMD is a complex and multi system vascular disease, and it truly takes a village to care for our patients with FMD. Our current model in the U. H. F. M D program is to have a vascular medicine provider as the gatekeeper, engaging with multiple other medical specialties and and other disciplines as well, including nursing. You're going to hear from my my nurse coordinator Rebecca Young and a bit the non invasive vascular laboratory as well as radiology. Our colleagues in the Neurological Institute, including our neurosurgery and interventional colleagues, are super vascular neurologist and our headache neurologists, interventional cardiologists and vascular surgeons. Medical geneticists, especially when we need to rule out overlapping conditions and FMD mimics nephrology, mental health specialists, high risk obstetricians and gynecology. We work with audiologists for pulse. It'll tinnitus. I mentioned radiologists, cardiovascular rehab for some of our patients and certainly administrative support. So this is a complex disease, but with a really good team. Um, excellent care plan can be put in place to help patients with FMD live full and high quality lives. And I thank you very much for this opportunity and look forward to hearing from my colleagues Rebecca Young and Pam Mace. Hello, everyone. My name is Becky Young, and today I will be presenting about fiber muscular dysplasia and nursing implications. During this presentation, I will go into a little bit about our coordination of patients, education and support, along with some pictures that show what this disease looks like on image ing. Particular dysplasia is a condition that causes narrowing or stenosis, and enlargement or aneurysm of the medium sized arteries in the body. Many patients have had strokes either due to embolism, corroded or vertebral artery dissection, hemorrhage related thio, aneurysms or hypertension. Many patients have also had, um eyes due to coronary artery dissection, or scad. A lot of these patients, mostly female, maybe frightened and overwhelmed by this new diagnosis. The nature of FMD as a rare disease often makes patients feel alone. Lack of awareness of the disease by other health care providers may worsen this. A significant percentage of patients have debilitating headaches on a daily basis. Neck pain, dizziness, posted tile. Tinnitus are also common. Among these patients in this picture is actual imaging of one of our patient you will see by the Blue Arrow. This is the classic string of beads in the internal carotid artery, and it is referred to as multi focal FMD. In this next slide will be looking at an a calm aneurysm and the classic beads of intracranial FMD. The Red arrow indicates the a calm aneurysm, and the yellow arrow indicates the beating of FMD. The first picture of the C T. A of the brain also depicts, um, some subarachnoid blood from this aneurysm actually being ruptured. Now we will talk about coordinating care for patients with that from D as a nurse and FMD program coordinator. It is my responsibility to make sure the patients are ready for their appointment with us, as many of them are coming here from out of state, I go over a questionnaire with 14 questions that addresses their initial diagnosis any interventions that they may have had, such as ballooning or stent placement medications that they're currently on and what we can dio. While they're here to make sure that we answer all of their questions or concerns, we also will request image ing from outside hospitals and have it uploaded to our system for review. After the information is obtained, we discuss the patient as a team to decide if they need further testing while they're here with us, such as ultrasound, C, T A or Emery along with basic laboratories. It will also be determined if the patient can be invited to participate in one of our research registries for FMD and SCAD. After the patients have been initially evaluated, they will contact me with any questions or concerns they may have prior to their appointment, such as any blood pressure fluctuations increases in headaches. Any symptoms related to possible artery dissections such as change in vision. We'll settle tinnitus. Any symptoms of stroke or anything that they may feel is caused by their diagnosis of fiber muscular dysplasia. It is important to be understanding of their concerns as they're scared, trying to understand their rare disease diagnosis and just need support and answers. They also often feel like everything that is happening to them. Any symptoms that they may have is related to their new diagnosis. Often times it is not. But we have to be reassuring and make them feel comfortable. Now we will talk a little bit about educating patients with FMD. We'll assess the patient to pinpoint the best way to educate them about their diagnosis and symptoms and determine how much they already know about their medical condition. As most of these patients have done a lot of research before coming to see us. Next, we'll build a report with the patients by asking questions to zero in on their major concerns. Oftentimes, medication adjustments are made and it's my job to reiterate the information that was given to the patient by the physician. We will then give them an information folder that contains articles about FMD and SCAD information about the organization's F. M. D s A and Scat Alliance and our support group, which I will go into later in this presentation but then reiterate everything by discussing the major points of the appointment the follow up plan, and answer any further questions that they may have. We will also educate our patients about the signs of heart attack caused by scad and the signs and symptoms of stroke that may be caused by an aneurysm rupture or a predator vertebral artery dissection. Patients are instructed to wear a medical alert bracelet that indicates their diagnosis. This will be helpful in the event that they are unable to communicate. It just can also carry with them an F M D card in their wallet that is courtesy of the F M. D. S. A. These cards were found in the educational folders that we give to the patients during their appointment. Pictured Here are two of our informational articles that could be found in the patient education folder. The one on the left is the first international consensus on the diagnosis and management of fiber muscular dysplasia, which can be found on the vascular Medicine journal Web Page one on the right is about spontaneous coronary artery dissection, which can be found on the A H, a Journal cardiology patient page on the University Hospitals Web page. We have an FMD patient information page that is helpful for patients as well a staff. The next two slides are some screenshots of what this looks like. If you go to the search bar on the university hospitals Web page and type in FMD, it will take you to the next slides. Our team has started a support group for patients with FMD and dissections that meets quarterly. We have a different topic of discussion at each meeting, such as headaches, interventions, um, and spontaneous coronary artery dissection, just to name a few. We used to meet in person at a Who's a medical center. But now, because of co vid, we meet on Zoom. So finding the good thing in the pandemic is that patients that live outside of Ohio are now able. Thio join us for the support group, and a lot of them have found that to be very helpful, um, support groups are great opportunity for our patients to talk about their diagnosis and the different symptoms that they have had. The different doctors that they have seen prior to finally getting the answers that they've been looking for, and just meeting and talking with people who get what they have been going through and understand how they got where they are now, as many of them have seen tons of doctors at different hospitals that really are not familiar with FMD, which we kind of touched on earlier, and it does make it kind of a struggle for patients to find answers. So when they finally do make it to us and they find these other patients and they're able to communicate with them, it brings them a lot of comfort. Pictured here is the fire for our fiber muscular dysplasia and arterial dissection Support group. This can be found in the educational folder that we give to patients at their appointment. This is one of my favorite pictures from one of our support groups for FMD and arterial dissection that we had at Ahuja. And the picture is nozzle a, our research coordinator, Melinda, our vascular tech me, the FMD program and nurse coordinator Dr Gornik R F M D physician Dr Shihab or one of our vascular interventional lists. And Coletta, one of the nurse educators from Ahuja also pictured here, is one of our dear patients who is also very active in the f. M. D. S. A. I hope you enjoyed this presentation. And if you have any questions, please feel free to email me at Rebecca dot young at U H Hospitals that org and the end Hi, Thank you for having me here today. My name is Pam Mason. I'm a registered nurse and I'm the executive director of the fiber muscular displays a Society of America. I'd like to start by sharing a little bit about myself in my journey with fiber Moscow dysplasia. 20 years ago, I dissected my bilateral crowded and left vertebral artery. After I went for a run, I had a t A and I was told that my dissections had happened spontaneously. That spontaneous dissections happened in about one and 200,000 people. The fear and anxiety were overwhelming. My life changed instantly in a day, and I could no longer do the things that I used to. Dio and I could no longer work as a registered nurse in the ER. My symptoms persisted for many months, and I was told that it would take time for the arteries to heal. Ah, year later, I ended up being diagnosed with fibromyalgia glow dysplasia, and I had to have stents placed in my credit arteries due to the symptoms that had persisted. F M. D s. A. Was really started by a group of motivated patients and family members who met on a Yahoo support group. I think that our motivation was driven by fear and anxiety for our future. And we really grew over conversations at a kitchen table. Several of us were from the Ohio area on. We would meet actually in Hudson, F. M. D. S A. Received their nonprofit status, and we opened our doors in December of 2000 and three. So I'd like to talk about before FMD essay for just a minute. So fiber Moscow dysplasia was primarily thought it was a renal diseases I've discussed FMD was not recognized as a cause of Stroker aneurysms and FMD was not even listed with the National Organization for Rare Disorders as a rare disease. There was no patient organization and there were no specialty clinics or experts to treat to the disease. In 2000 and four, we launched our awareness campaign, which included a website dedicated to F M D and F m D patient stories. For many of us, the website was a way to validate our disease and our experiences. In 2000 and five, we published our first brochure and launched our grassroots awareness program. Based on my own experience and that of so many others, I reached out to the stroke Association's to enquire why there was no information on fiber muscular dysplasia on their website. Within several months, the National Stroke Association responded that they would be adding the disease as a cause of stroke. They also invited me to attend a medical conference and exhibit for free. While there, I was asked by several neurologists, Why are you here? F M. D s a renal disease. And so, by sharing stories, we were able to raise awareness of carotid and vertebral fiber muscular dysplasia in 2000 and six, I was contacted by a geneticist from Belgium. He had reached out to me about a male patient from Spain and was looking for information on the disease and who might be doing research. That conversation led to me being invited over to the University of Gent to meet with several there geneticist to discuss FMD. They had asked what I had hoped to accomplish, and my only response was I'm in way over my head and I hope that you'll put a name and a face to this disease and you'll help me. And they laughed on. The rest is history. And for any of you who are familiar with Louise deeds disease, that is Bart lows to the for right there, and it really waas an amazing experience and sand that I had to leave the country to actually feel like I had researchers taking me seriously. One of the things they had shared with me was an article that was published in 1979 titled The Genetics of Fiber Muscular Dysplasia. I contact with the authors Dr Kenneth Kidd and Dr Alan Rushed in, and I was told, I know no more about that disease today than I did 30 years ago as a patient. That was very devastating. Thio here. All I could think of was how different my diagnosis might have been had someone taken an interest in F M. D. So many decades ago. The first person actually diagnosed with FMD was a young child who was five years old and it was in 1938. My diagnosis came in the year 2000. So think of the difference that would have made in my life had someone taken an interest. I was more determined than ever to continue our efforts with F. M D. And I eventually gave up my full time clinical job as a nurse to focus all of my efforts in helping patients. Building Resource is raising awareness and educating the medical community. I didn't want anyone to ever go through what I did. Ah, year after the National Stroke Association came on board, the American Stroke Association recognized FMD as a cause of stroke. They contacted me and said, We'd like to put your story on the cover of a magazine and we'd like to include several other patients stories. This article changed everything. We immediately saw an increase in patients being diagnosed with carotid and vertebral FMD and recognize that the neurologists were now looking for the disease and no longer assumed that it was just a renal disease. By 2000 and nine, more and more patients were getting diagnosed with FM D and F M. D s A. It was growing much faster than we could keep up with. We were even being noticed by journalists and even producers off different shows. This article made Page one of The Wall Street Journal the rare disease that isn't estimating that up to 5% of Americans may be affected with FMD. We immediately again saw our website hits go up and more patients contacting us that we're getting diagnosed with FMD. The same year the Wall Street Journal article was published, I was contacted by a producer from Discovery Health. They had gotten my name from a vascular disease foundation, and they were looking for stories for mystery diagnosis. I agreed to share my story, and it aired in 2000 and nine, and we were immediately contacted by hundreds of patients who thought they might have FMD and others that were diagnosed with FM D, and had no idea that the organization existed in 2011. The show aired internationally and again we saw an increase in diagnosis of patients all over the world who were contacting us. Looking for resource is each opportunity always presented another, and I was asked to speak at a vascular conference by Dr Michael Jaff, who's pictured with me in this photo. When I was done speaking, Dr Jeff handed me an envelope, and when I opened it, there was a check for $50,000. As you can see, I was very emotional, but it wasn't all about the money. We didn't need the money, but it was about the medical community standing behind us. They saw us and they were listening and they were there to support us. It became very clear that the more awareness we raised and the more education we did, the more patients we were seeing getting diagnosed with FMD. We have seen the diagnosis rate and knowledge of the disease grow in direct proportion to the reach of all of our programs. After many years of planning and fundraising, we launched the United States Registry for fiber muscular dysplasia and I won't really go into that. I know Dr Gornik has already discussed it, but once we have the data to support FMD is a cause of aneurysms. The association's finally came on board prior to having that data. I had tried for five years unsuccessfully to get them to list FMD is a cause of aneurysms and they would not do it until they have the data and so research. Our registry is very important. And if you look at all of the research being published today, it's really a direct result of the work that we started over a decade ago. And we're very proud of that. While exhibiting at the International Stroke Conference one year, I met the gentleman in the photo with me to the right doctor to, as he told me he'd written on FMD, and I was kind of surprised because I had never heard of him or seen the article. I introduced him to Dr Jeffrey Olin, who is the chair of our medical advisory board, and that led to a meeting in Paris, France. Each meeting led to another opportunity and another meeting in different countries around the world, with more researchers getting involved. Over the years we have built. A wonderful resource is on our website and one of those includes our patient toolbox. In the tool box, you can find an emergency alert Card Brochures dictionary with commonly used terms. Ah, letter to Family and Friends, which is one of the most downloaded files on our website, and so much more Other resource is available to our patient community. Include educational videos, stories, power point presentations. We also have a research network, which is several pages dedicated to the latest research findings, whether it be from our registry or from researchers around the world. We also have a page dedicated to current research projects that patients are able to participate in. And we have volunteers all over the world who speak multiple languages who can assist when patients contact us. We have an inspire support group that has over 4000 patients on it, and we have materials offered in multiple languages. One of the highlights every year is the F. M. D. S, a annual meeting. We've been hosting these since 2000 and eight, and even at our first meeting we had a lot of patients and family members of 10. This is a great opportunity for patients to meet one another, and they develop a support system in form lifelong friendships. We provide education. We have experts come in and speak on the latest data and findings of the disease, and it's also on opportunity for us to assist with research. Every year there have been either blood draw, saliva collections and even a quality of life study done at the meeting. This paper was published after interviewing patients at RFM D s, a annual meeting and having the patients participate in surveys. And I think it validated a lot of the experience that patients have that I don't think anyone, including many of the physicians fully understood. F. M. D. S A. Is an official charity, the Cleveland Marathon. And this is such a fun way for us to raise awareness and fundraise at the same time. We were honored to learn in 2015 that we had more runners than any other charity in the history of the Cleveland Marathon. So if you're considering running in 2021 we'd love to have you join our team. Over the years, FMD Esa has inspired and facilitated the creation of FMD support groups and organizations and at least five countries. We've also helped facilitate collaboration between national and international clinicians and researchers. As we've already demonstrated, it honestly takes all of us to be able to support this community as we continue to grow larger than we ever expected. With so many patients being diagnosed, the photos are one of our support group leaders from Belgium, another one from the Netherlands before we were getting ready to present. And then the bottom photo is of a physicians speaking at the very first patient meeting in the Netherlands. And she is actually the wife of the geneticist who invited me to Belgium in 2000 and six. I had to include the slide just to demonstrate how far we've come from my diagnosis in 2000, when there was no organization. FMD was not listed as a cause of stroke or aneurysms, and very few medical professionals were really even aware of the disease. And so it's so exciting to see the international registry with 43 centers in 21 countries, we've come a long way and I would really like to thank Dr Gornik for all of her efforts, um, in supporting F m. D s A. By serving and our medical advisory board And for all the connections that she's made around the world and how hard she works to really make a difference for our patient community. Thank you, Dr Warning. It's been 20 years since my diagnosis, and I am surrounded by an amazing group of researchers from all over the world. We absolutely wouldn't be where we are today without them. If you're interested in learning more about fibra muscular dysplasia, please visit our website at www dot FM D s a dot org's. There will be lots of resource is for your patients. And don't forget to check out the research pages in case you'd like to continue to learn more about the disease. Thank you for having me here today. Created by
