Materiały źródłowe

• #1 Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493204/

  Fibromuscular dysplasia (FMD) is a rare systemic vascular disease, affecting younger women and accounting for 10% to 20% of the cases of renal artery stenosis. […] The exact prevalence of FMD remains unknown. The prevalence of renal FMD is 0.4 %, whereas the estimated prevalence of craniocervical FMD is much lower at 0.1%. […] FMD occurs predominantly in females below the age of 50 years. The female to male ratio reported in most studies is 3:1, however, data from the US and French registry supported 9:1 female preponderance. […] There is no evidence to support racial or ethnic propensity, but Caucasians are more likely to be affected than Blacks.

• #2 Fibromuscular dysplasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-28

  Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. […] The prevalence of FMD is not precisely known. Ten to 20% of documented renal artery stenoses are the consequence of FMD, and renovascular hypertension is documented in less than 1 to 2% of hypertensive patients. Assuming a 20% prevalence of hypertension in middle-aged subjects, the prevalence of clinically significant renal artery FMD can be estimated to be about 0.4%. The prevalence of asymptomatic renal artery FMD is, however, one order of magnitude higher: four reports of angiographic findings for a total of 3181 potential kidney donors describe 139 subjects (4.4%) with evidence of FMD. […] The number of reported cases of carotid artery FMD is about half that of renal artery FMD.

• #3 Fibromuscular dysplasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-28

  Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. […] The prevalence of FMD is not precisely known. Ten to 20% of documented renal artery stenoses are the consequence of FMD, and renovascular hypertension is documented in less than 1 to 2% of hypertensive patients. Assuming a 20% prevalence of hypertension in middle-aged subjects, the prevalence of clinically significant renal artery FMD can be estimated to be about 0.4%. The prevalence of asymptomatic renal artery FMD is, however, one order of magnitude higher: four reports of angiographic findings for a total of 3181 potential kidney donors describe 139 subjects (4.4%) with evidence of FMD. […] The number of reported cases of carotid artery FMD is about half that of renal artery FMD.

• #4 Fibromuscular dysplasia: what the radiologist should know: a pictorial review | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-015-0382-4

  Fibromuscular dysplasia (FMD) is an idiopathic, segmentary, non-inflammatory and non-atherosclerotic disease that can affect all layers of both small- and medium-calibre arteries. The prevalence of FMD is estimated between 4 and 6 % in the renal arteries and between 0.3 and 3 % in the cervico-encephalic arteries. […] The prevalence of FMD is estimated between 4 and 6 % in the renal arteries and between 0.3 and 3 % in the cervico-encephalic arteries. However, most data stem from series of consecutive angiograms performed in symptomatic patients and therefore cannot be considered representative. Several authors believe that these prevalence values are underestimated because FMD is frequently asymptomatic. […] FMD is most frequently revealed in the kidneys in young patients with resistant hypertension secondary to fibrodysplastic renal artery stenosis (RAS). FMD is found in about 1 % of hypertensive patients and represents the second leading cause of renovascular hypertension after atherosclerotic disease.

• #5 Bringing Awareness to an Under-Recognized Medical Conundrum – Fibromuscular dysplasia: state of the science and critical unanswered questions – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/fibromuscular-dysplasia-state-of-the-science-and-critical-unanswered-questions/Commentary

  Fibromuscular dysplasia (FMD) is a non-inflammatory, arterial disease that most often affects women less than 65 years of age. The prevalence of FMD may be as high as 4% to 6% in the general population. Therefore, FMD could potentially affect millions of Americans. The natural history of and etiology for FMD are not well defined, although there are numerous reports of FMD in first-degree relatives. However, discrete genes linked to FMD have yet to be delineated. […] The United States (U.S.) FMD Registry revealed a higher than expected presence of thoracic or abdominal aortic aneurysms in patients with FMD. […] The U.S. FMD Registry represents a start towards garnering a broader and more collaborative understanding of FMD, but funding and federal support for more structured and meaningful prospective investigation of FMD remain extremely challenging.

• #6 Renal Artery Fibromuscular Dysplasia Update – Endovascular Today

  https://evtoday.com/articles/2012-feb/renal-artery-fibromuscular-dysplasia-update

  Fibromuscular dysplasia (FMD) is a noninflammatory, nonatherosclerotic arterial disease that predominantly affects the renal and carotid arteries but has also been identified in almost every arterial bed. FMD occurs most commonly in women who are between the ages of 20 and 60, but it can be present at any age and occurs in approximately 10% of men. The prevalence of FMD in the general population is unknown; however, several lines of evidence suggest that FMD has a higher prevalence than previously thought. Cragg and associates identified FMD in the renal arteries in 3.8% of 1,862 potential renal donors who underwent renal angiography. Neymark and colleagues found on renal angiography that 6.6% (47/716) of potential renal donors had FMD. If these studies are accurate and applied to the general population, and we were to assume an estimated prevalence of at least 5% within the United States population of women over the age of 18, then approximately 5 to 8 million women may have FMD.

• #7 Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493204/

  Fibromuscular dysplasia (FMD) is a rare systemic vascular disease, affecting younger women and accounting for 10% to 20% of the cases of renal artery stenosis. […] The exact prevalence of FMD remains unknown. The prevalence of renal FMD is 0.4 %, whereas the estimated prevalence of craniocervical FMD is much lower at 0.1%. […] FMD occurs predominantly in females below the age of 50 years. The female to male ratio reported in most studies is 3:1, however, data from the US and French registry supported 9:1 female preponderance. […] There is no evidence to support racial or ethnic propensity, but Caucasians are more likely to be affected than Blacks.

• #8 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  FMD generally follows a benign course and is frequently an incidental finding. However, cranial involvement bears worse prognosis because of the occurrence of dissection and strokes and the coexistence of saccular aneurysms. […] Whites are considered to be more commonly affected than blacks, although specific statistics on racial predilection are not available. […] FMD occurs more frequently in women, at a ratio of approximately 3:1 to 4:1. […] FMD most commonly presents in young to middle-aged adults. One angiographic series found a mean age of 48 years with a range of 2470 years.

• #9 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease that was once underrecognized and is significantly more prevalent in women than men. […] Despite once being considered a rare disease, this often-underdiagnosed disease may, in fact, affect up to 14% of all adult women. […] Much of what we know about FMD has come from national and international registry data. Currently, clinical registries such as the United States Registry for FMD and the European/International FMD Registry and Initiative are enrolling affected individuals to gain a better understanding of this disease. […] The mean age at diagnosis is 55.7 years, although patients may be affected at any age. […] Men comprise 10% or fewer of the FMD patient population and may present differently than women.

• #10 Fibromuscular Dysplasia (FMD): The Rare Disease That Isn’t | The Texas Heart Institute®

  https://www.texasheart.org/fibromuscular-dysplasia-fmd-the-rare-disease-that-isnt/

  The cause of FMD is still unknown and progress has been slow in understanding the epidemiology, pathogenesis and outcomes since its first description in 1938. […] According to the United States FMD Registry, the average age at diagnosis is 52 years, ranging from 5 to 86 years. […] FMD is a subject of research investigation at The Texas Heart Institute (THI) in the Texas Heart Institute Center for Heart & Vascular Health.

• #11 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  FMD generally follows a benign course and is frequently an incidental finding. However, cranial involvement bears worse prognosis because of the occurrence of dissection and strokes and the coexistence of saccular aneurysms. […] Whites are considered to be more commonly affected than blacks, although specific statistics on racial predilection are not available. […] FMD occurs more frequently in women, at a ratio of approximately 3:1 to 4:1. […] FMD most commonly presents in young to middle-aged adults. One angiographic series found a mean age of 48 years with a range of 2470 years.

• #12

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is a significant cause of secondary hypertension. Progression of fibromuscular dysplasia can lead to uncontrolled hypertension, renal insufficiency, strokes and rarely end-stage kidney disease. More frequently diagnosed in females and individuals between the ages of 30 and 50, the natural history and clinical demographics of fibromuscular dysplasia for individuals diagnosed at older age are not well understood currently. […] We identified and report a further 9 cases from the Salford fibromuscular dysplasia database, all of whom were aged 65 years on presentation. The mean age of this cohort was 69.5 years. All of the patients are females and of White ethnicity. […] Data from the European/International fibromuscular dysplasia registry of the first 1000 patients support the mean age of diagnosis 46-61 years with 12% of patients being 65 years old.

• #13 Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493204/

  Fibromuscular dysplasia (FMD) is a rare systemic vascular disease, affecting younger women and accounting for 10% to 20% of the cases of renal artery stenosis. […] The exact prevalence of FMD remains unknown. The prevalence of renal FMD is 0.4 %, whereas the estimated prevalence of craniocervical FMD is much lower at 0.1%. […] FMD occurs predominantly in females below the age of 50 years. The female to male ratio reported in most studies is 3:1, however, data from the US and French registry supported 9:1 female preponderance. […] There is no evidence to support racial or ethnic propensity, but Caucasians are more likely to be affected than Blacks.

• #14 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  FMD generally follows a benign course and is frequently an incidental finding. However, cranial involvement bears worse prognosis because of the occurrence of dissection and strokes and the coexistence of saccular aneurysms. […] Whites are considered to be more commonly affected than blacks, although specific statistics on racial predilection are not available. […] FMD occurs more frequently in women, at a ratio of approximately 3:1 to 4:1. […] FMD most commonly presents in young to middle-aged adults. One angiographic series found a mean age of 48 years with a range of 2470 years.

• #15

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is a significant cause of secondary hypertension. Progression of fibromuscular dysplasia can lead to uncontrolled hypertension, renal insufficiency, strokes and rarely end-stage kidney disease. More frequently diagnosed in females and individuals between the ages of 30 and 50, the natural history and clinical demographics of fibromuscular dysplasia for individuals diagnosed at older age are not well understood currently. […] We identified and report a further 9 cases from the Salford fibromuscular dysplasia database, all of whom were aged 65 years on presentation. The mean age of this cohort was 69.5 years. All of the patients are females and of White ethnicity. […] Data from the European/International fibromuscular dysplasia registry of the first 1000 patients support the mean age of diagnosis 46-61 years with 12% of patients being 65 years old.

• #16 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  Fibromuscular dysplasia (FMD) is an angiopathy that affects medium-sized arteries predominantly in young women of childbearing age. Among patients with identified FMD, renal involvement occurs in 6075%, cerebrovascular involvement in 2530%, visceral involvement in 9%, and arteries of the limbs in about 5%. […] FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] In patients with identified cephalic FMD, 95% have internal carotid artery involvement and 1243% have vertebral artery involvement. […] Although early autopsy series suggested that fibromuscular dysplasia (FMD) involving the craniocervical arteries occurs at a frequency of approximately 1%, a more recent large series looking at FMD in the carotid arteries only suggests a lower frequency, on the order of 0.02%.

• #17 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  Fibromuscular dysplasia (FMD) is an angiopathy that affects medium-sized arteries predominantly in young women of childbearing age. Among patients with identified FMD, renal involvement occurs in 6075%, cerebrovascular involvement in 2530%, visceral involvement in 9%, and arteries of the limbs in about 5%. […] FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] In patients with identified cephalic FMD, 95% have internal carotid artery involvement and 1243% have vertebral artery involvement. […] Although early autopsy series suggested that fibromuscular dysplasia (FMD) involving the craniocervical arteries occurs at a frequency of approximately 1%, a more recent large series looking at FMD in the carotid arteries only suggests a lower frequency, on the order of 0.02%.

• #18 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  Fibromuscular dysplasia (FMD) is an angiopathy that affects medium-sized arteries predominantly in young women of childbearing age. Among patients with identified FMD, renal involvement occurs in 6075%, cerebrovascular involvement in 2530%, visceral involvement in 9%, and arteries of the limbs in about 5%. […] FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] In patients with identified cephalic FMD, 95% have internal carotid artery involvement and 1243% have vertebral artery involvement. […] Although early autopsy series suggested that fibromuscular dysplasia (FMD) involving the craniocervical arteries occurs at a frequency of approximately 1%, a more recent large series looking at FMD in the carotid arteries only suggests a lower frequency, on the order of 0.02%.

• #19 Fibromuscular Dysplasia: Renewed Awareness and New Insights Regarding an Orphan Disease

  https://www.acc.org/latest-in-cardiology/articles/2015/02/27/08/54/fibromuscular-dysplasia-renewed-awareness-and-new-insights

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is due to abnormal cell growth (e.g., fibrosis) of the vessel wall. […] The etiology and prevalence of FMD remain unknown. […] The Fibromuscular Dysplasia Society of America (FMDSA) was founded in 2003. […] Funded by FMDSA, the United States Registry for Fibromuscular Dysplasia began enrolling patients in 2009. […] The registry recently celebrated the enrollment of its 1,100th patient in the summer of 2014 and continues to enroll an increasing number of patients each year. […] In the U.S. registry approximately half of patients imaged in multiple areas will have multi-vessel involvement. […] A major problem regarding the care of patients with FMD is the gap in time that exists between onset of symptoms and diagnosis.

• #20 Fibromuscular dysplasia: what the radiologist should know: a pictorial review | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-015-0382-4

  In 2012, Olin et al. included 447 cases from the FMD registry from nine states in the USA, the largest number of patients included in any study to date. The most frequently described symptoms or conditions were hypertension (63.8 %), headaches (52.4 %), pulsatile tinnitus (27.5 %), dizziness (26 %) and neck pain (22 %). This study showed a clear female prevalence (91 %), and the mean age at diagnosis was 51.9 years. […] Several studies have reported a lower frequency of FMD lesions in the carotid arteries compared with renal arteries. In 1982, Mettinger et al. found 58 % renal artery involvement versus 32 % carotid artery involvement based on a systematic review of 36 studies, including 1,197 patients with FMD. […] The advent of multi-detector CT and the increase in awareness among physicians about the cervico-encephalic location of FMD have certainly participated in increasing its prevalence. In 1982, Mettinger and Ericson, from an analysis of the literature about FMD, reported a prevalence of cervico-encephalic FMD lesions of 32 % (in about 1,100 patients). In 2012, Olin et al. reported a much higher prevalence of 74 % (in 447 cases from the FMD registry from nine states in the USA).

• #21 Fibromuscular dysplasia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/fibromuscular-dysplasia-1?lang=us

  The prevalence is unknown. It is most common in young women with a female to male ratio of 3:1, and is typically diagnosed between the ages of 30 and 50. […] Fibromuscular dysplasia may affect any medium-sized artery in the body and is commonly multifocal and bilateral (up to 60% when involving the renal arteries).

• #22 Systematic and Multidisciplinary Evaluation – Congenital Heart International Professionals (CHiP) Network

  https://thechipnetwork.org/systematic-and-multidisciplinary-evaluation-of-fibromuscular-dysplasia-patients-reveals-high-prevalence-of-previously-undetected-fibromuscular-dysplasia-lesions-and-affects-clinical-decisions-the-arc/

  Fibromuscular dysplasia (FMD), regarded as a generalized vascular disease, may affect all vascular beds and may result in arterial stenosis, occlusion, aneurysm, or dissection. It has been proposed to systematically evaluate all vascular beds in patients with FMD, regardless of initial FMD involvement. […] The ARCADIA-POL study shows for the first time that the systematic and multidisciplinary evaluation of patients with FMD based on a whole-body computed tomography angiography scan has an impact on their clinical management. This proved the necessity of the systematic evaluation of all vascular beds in patients with FMD, regardless of initial FMD involvement.

• #23 Fibromuscular Dysplasia and Stroke

  https://practicalneurology.com/articles/2020-jan/fibromuscular-dysplasia-and-stroke

  Because FMD is commonly identified in asymptomatic individuals, pinpointing the exact prevalence and natural history is difficult. According to the US FMD Registry, the median age at diagnosis is 51.9, 90% of people diagnosed with FMD are women, 72% have hypertension, and 60% have significant headaches. A minority of people with FMD report a close relative with FMD, although approximately 80% of first- or second-degree relatives have hypertension and 53.5% report a history of stroke. It is equally common for FMD to affect the renal and cerebrocervical arteries, with about a 65% coprevalence. Modern CT-angiography (CTA) and contrast-enhanced magnetic resonance angiography (MRA) have enhanced the radiographic characterization and diagnosis of FMD. Among individuals with cerebrocervical FMD, 95% have carotid involvement, often bilaterally, and 70% have involvement of the vertebral arteries.

• #24 Fibromuscular Dysplasia: An Important Vasculitic Mimic

  https://www.jscimedcentral.com/jounal-article-info/Annals-of-Vascular-Medicine-and-Research/Fibromuscular-Dysplasia%3A-An–Important-Vasculitic-Mimic-10540

  At present CTA is recommended to be the imaging modality of choice by the European expert consensus because of high spatial resolutions, ability to distinguish between atherosclerotic plaques versus FMD lesions and shorter scan times. […] FMD has a high prevalence of multi-vessel involvement in up to 66% patients in literature and was present in all of our patients. […] It is therefore imperative for clinicians to be aware of FMD given the potential considerable delay in diagnosing this condition and the significant differences in management in comparison with that of its differential diagnoses.

• #25 Fibromuscular dysplasia: what the radiologist should know: a pictorial review | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-015-0382-4

  In 2012, Olin et al. included 447 cases from the FMD registry from nine states in the USA, the largest number of patients included in any study to date. The most frequently described symptoms or conditions were hypertension (63.8 %), headaches (52.4 %), pulsatile tinnitus (27.5 %), dizziness (26 %) and neck pain (22 %). This study showed a clear female prevalence (91 %), and the mean age at diagnosis was 51.9 years. […] Several studies have reported a lower frequency of FMD lesions in the carotid arteries compared with renal arteries. In 1982, Mettinger et al. found 58 % renal artery involvement versus 32 % carotid artery involvement based on a systematic review of 36 studies, including 1,197 patients with FMD. […] The advent of multi-detector CT and the increase in awareness among physicians about the cervico-encephalic location of FMD have certainly participated in increasing its prevalence. In 1982, Mettinger and Ericson, from an analysis of the literature about FMD, reported a prevalence of cervico-encephalic FMD lesions of 32 % (in about 1,100 patients). In 2012, Olin et al. reported a much higher prevalence of 74 % (in 447 cases from the FMD registry from nine states in the USA).

• #26 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  The great majority of affected men have renal involvement (up to 90%) and mesenteric involvement occurs more frequently in men than in women. […] Previous registry data show that a minority of patients are asymptomatic at the time of diagnosis. […] As time goes on and awareness of this disorder increases, the percentage of patients diagnosed incidentally is likely to increase as well. […] FMD is an arterial disease that consists of hyperplasia of the intimal and/or medial layers of predominantly medium-sized muscular arteries. […] Although there are still no formal diagnostic criteria for FMD, the First International Consensus of FMD outlines suggestions for when to consider FMD as a leading diagnosis. […] The international consensus on FMD recommends CT angiography (CTA) as the first-line imaging modality in patients with suspected FMD due to its superior spatial resolution and visualization of small calcifications.

• #27 Fibromuscular Dysplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1161248-overview

  FMD generally follows a benign course and is frequently an incidental finding. However, cranial involvement bears worse prognosis because of the occurrence of dissection and strokes and the coexistence of saccular aneurysms. […] Whites are considered to be more commonly affected than blacks, although specific statistics on racial predilection are not available. […] FMD occurs more frequently in women, at a ratio of approximately 3:1 to 4:1. […] FMD most commonly presents in young to middle-aged adults. One angiographic series found a mean age of 48 years with a range of 2470 years.

• #28 Bringing Awareness to an Under-Recognized Medical Conundrum – Fibromuscular dysplasia: state of the science and critical unanswered questions – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/fibromuscular-dysplasia-state-of-the-science-and-critical-unanswered-questions/Commentary

  Fibromuscular dysplasia (FMD) is a non-inflammatory, arterial disease that most often affects women less than 65 years of age. The prevalence of FMD may be as high as 4% to 6% in the general population. Therefore, FMD could potentially affect millions of Americans. The natural history of and etiology for FMD are not well defined, although there are numerous reports of FMD in first-degree relatives. However, discrete genes linked to FMD have yet to be delineated. […] The United States (U.S.) FMD Registry revealed a higher than expected presence of thoracic or abdominal aortic aneurysms in patients with FMD. […] The U.S. FMD Registry represents a start towards garnering a broader and more collaborative understanding of FMD, but funding and federal support for more structured and meaningful prospective investigation of FMD remain extremely challenging.

• #29 Fibromuscular Dysplasia and Stroke

  https://practicalneurology.com/articles/2020-jan/fibromuscular-dysplasia-and-stroke

  The observed natural history of FMD in asymptomatic incidentally diagnosed cases is relatively benign. However, in some cases the initial diagnosis of FMD is made in the setting of stroke, which as a manifestation of FMD, is most often because of concomitant cervical artery dissection (CeAD). Compared with the general population, FMD is associated with a higher prevalence of intracranial aneurysms, particularly in women. In the US FMD registry, over 40% of people with FMD report with associated CeAD or aneurysm, although this is likely an overestimation of the true natural history given referral and sampling bias in this population. […] Asymptomatic FMD when discovered incidentally has a favorable natural history. Regardless, consensus statements suggest 1-time vascular imaging from brain to pelvis, with either CTA or MRA, to screen for aneurysms, dissections, and FMD in other arterial beds. For people with FMD and no prior history of stroke, the long-term benefit of antiplatelet therapy for primary stroke prevention is unknown and should be weighed against the long-term bleeding risk.

• #30 Fibromuscular dysplasia – Definition, Diagnosis and Treatment

  https://angiologist.com/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is a disease of arteries. It is a systemic condition- FMD can affect most all arteries of the body, although some are affected more often than others (i.e. renal and carotid arteries). While FMD was first described in the 1930’s, much is still unknown about this condition. […] We don’t really know what the prevalence of fibromuscular dysplasia is. It has been described as affecting 0.4% of the population, though some series report higher incidences (as high as 4%!) such as in potential kidney donors or incidentally on imaging studies. […] Fibromuscular dysplasia typically effects women who do not suffer obvious cardiovascular risk factors. […] The prevalence of aneurysms and dissection in patients with fibromuscular dysplasia has not yet been reported appropriately, but probably lies between 4 and 10% according to old, small series. A 2017 report found 12.9% of women with FMD to have brain aneurysms, and of those more than 40% were greater than 5 mm in diameter. […] The prevalence of this involvement may be higher than previously thought according to the international registry of fibromuscular dysplasia.

• #31 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  The great majority of affected men have renal involvement (up to 90%) and mesenteric involvement occurs more frequently in men than in women. […] Previous registry data show that a minority of patients are asymptomatic at the time of diagnosis. […] As time goes on and awareness of this disorder increases, the percentage of patients diagnosed incidentally is likely to increase as well. […] FMD is an arterial disease that consists of hyperplasia of the intimal and/or medial layers of predominantly medium-sized muscular arteries. […] Although there are still no formal diagnostic criteria for FMD, the First International Consensus of FMD outlines suggestions for when to consider FMD as a leading diagnosis. […] The international consensus on FMD recommends CT angiography (CTA) as the first-line imaging modality in patients with suspected FMD due to its superior spatial resolution and visualization of small calcifications.

• #32 Fibromuscular dysplasia: Advances in understanding and management | Cleveland Clinic Journal of Medicine

  https://www.ccjm.org/content/83/11_suppl_2/s45

  Several key findings in recent years have reshaped our understanding of fibromuscular dysplasia (FMD), an uncommon nonatherosclerotic disease of medium-sized arteries that affects mainly women. […] While the true prevalence of this disease remains unknown, studies suggest that more people may be affected than previously reported. […] The diagnosis of FMD should be suspected in the case of young or middle-aged women presenting with migraine headaches, pulsatile tinnitus, or hypertension and for women with cervical bruits without typical risk factors for atherosclerotic disease. […] Since it began enrolling patients in 2009, the US Registry for Fibromuscular Dysplasia has grown to include 13 active centers. […] Although FMD is considered a rare disease (and recognized as such by the National Organization of Rare Diseases), the exact prevalence is unknown.

• #33 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  The great majority of affected men have renal involvement (up to 90%) and mesenteric involvement occurs more frequently in men than in women. […] Previous registry data show that a minority of patients are asymptomatic at the time of diagnosis. […] As time goes on and awareness of this disorder increases, the percentage of patients diagnosed incidentally is likely to increase as well. […] FMD is an arterial disease that consists of hyperplasia of the intimal and/or medial layers of predominantly medium-sized muscular arteries. […] Although there are still no formal diagnostic criteria for FMD, the First International Consensus of FMD outlines suggestions for when to consider FMD as a leading diagnosis. […] The international consensus on FMD recommends CT angiography (CTA) as the first-line imaging modality in patients with suspected FMD due to its superior spatial resolution and visualization of small calcifications.

• #34 Fibromuscular Dysplasia: An Important Vasculitic Mimic

  https://www.jscimedcentral.com/jounal-article-info/Annals-of-Vascular-Medicine-and-Research/Fibromuscular-Dysplasia%3A-An–Important-Vasculitic-Mimic-10540

  At present CTA is recommended to be the imaging modality of choice by the European expert consensus because of high spatial resolutions, ability to distinguish between atherosclerotic plaques versus FMD lesions and shorter scan times. […] FMD has a high prevalence of multi-vessel involvement in up to 66% patients in literature and was present in all of our patients. […] It is therefore imperative for clinicians to be aware of FMD given the potential considerable delay in diagnosing this condition and the significant differences in management in comparison with that of its differential diagnoses.

• #35 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  Catheter-based angiography remains the gold standard imaging technique for diagnosing and evaluating the location and morphology of FMD. […] Management of FMD is dependent on vascular bed involvement, severity, associated complications of aneurysms and dissections, and consideration of symptoms. […] Counseling, personalized and routine surveillance measures, medical therapy and, less commonly, surgical intervention comprise the mainstays of FMD management. […] The question of whether family members of patients with FMD should be screened for the disease is a frequent one. […] At this time, it is not recommended to screen asymptomatic family members of patients with FMD. […] For family members who are symptomatic, shared decision-making between the family member and a provider is recommended to determine whether a workup is warranted. […] Current ongoing registries such as the US Registry for Fibromuscular Dysplasia and the European/International FMD Registry and Initiative are gathering data on thousands of patients.

• #36 Fibromuscular Dysplasia Disease of the Carotid Artery | IntechOpen

  https://www.intechopen.com/online-first/89654

  Vascular imaging remains the primary method for diagnosing Carotid Artery Fibromuscular Dysplasia (CaFMD). […] Doppler USG continues to be the first-line screening test for CaFMD. […] Carotid Doppler USG may be useful for the intermittent monitoring and surveillance of patients with CaFMD. […] After detecting CaFMD, patients should be followed up at least annually, with more frequent monitoring for those with severe symptoms or the disease. […] Specific algorithms for follow-up imaging methods for CaFMD patients are currently insufficient. […] However, in experienced centers, non-invasive monitoring with Doppler ultrasound can be performed frequently in appropriate patients. […] Studies are needed to increase the number of genes associated with FMD, examine familial factors, and apply different genetic methods in screenings.

• #37 Fibromuscular Dysplasia Disease of the Carotid Artery | IntechOpen

  https://www.intechopen.com/online-first/89654

  Vascular imaging remains the primary method for diagnosing Carotid Artery Fibromuscular Dysplasia (CaFMD). […] Doppler USG continues to be the first-line screening test for CaFMD. […] Carotid Doppler USG may be useful for the intermittent monitoring and surveillance of patients with CaFMD. […] After detecting CaFMD, patients should be followed up at least annually, with more frequent monitoring for those with severe symptoms or the disease. […] Specific algorithms for follow-up imaging methods for CaFMD patients are currently insufficient. […] However, in experienced centers, non-invasive monitoring with Doppler ultrasound can be performed frequently in appropriate patients. […] Studies are needed to increase the number of genes associated with FMD, examine familial factors, and apply different genetic methods in screenings.

• #38 Fibromuscular Dysplasia Disease of the Carotid Artery | IntechOpen

  https://www.intechopen.com/online-first/89654

  Vascular imaging remains the primary method for diagnosing Carotid Artery Fibromuscular Dysplasia (CaFMD). […] Doppler USG continues to be the first-line screening test for CaFMD. […] Carotid Doppler USG may be useful for the intermittent monitoring and surveillance of patients with CaFMD. […] After detecting CaFMD, patients should be followed up at least annually, with more frequent monitoring for those with severe symptoms or the disease. […] Specific algorithms for follow-up imaging methods for CaFMD patients are currently insufficient. […] However, in experienced centers, non-invasive monitoring with Doppler ultrasound can be performed frequently in appropriate patients. […] Studies are needed to increase the number of genes associated with FMD, examine familial factors, and apply different genetic methods in screenings.

• #39 Fibromuscular Dysplasia and Stroke

  https://practicalneurology.com/articles/2020-jan/fibromuscular-dysplasia-and-stroke

  The observed natural history of FMD in asymptomatic incidentally diagnosed cases is relatively benign. However, in some cases the initial diagnosis of FMD is made in the setting of stroke, which as a manifestation of FMD, is most often because of concomitant cervical artery dissection (CeAD). Compared with the general population, FMD is associated with a higher prevalence of intracranial aneurysms, particularly in women. In the US FMD registry, over 40% of people with FMD report with associated CeAD or aneurysm, although this is likely an overestimation of the true natural history given referral and sampling bias in this population. […] Asymptomatic FMD when discovered incidentally has a favorable natural history. Regardless, consensus statements suggest 1-time vascular imaging from brain to pelvis, with either CTA or MRA, to screen for aneurysms, dissections, and FMD in other arterial beds. For people with FMD and no prior history of stroke, the long-term benefit of antiplatelet therapy for primary stroke prevention is unknown and should be weighed against the long-term bleeding risk.

• #40 Fibromuscular Dysplasia: Renewed Awareness and New Insights Regarding an Orphan Disease

  https://www.acc.org/latest-in-cardiology/articles/2015/02/27/08/54/fibromuscular-dysplasia-renewed-awareness-and-new-insights

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is due to abnormal cell growth (e.g., fibrosis) of the vessel wall. […] The etiology and prevalence of FMD remain unknown. […] The Fibromuscular Dysplasia Society of America (FMDSA) was founded in 2003. […] Funded by FMDSA, the United States Registry for Fibromuscular Dysplasia began enrolling patients in 2009. […] The registry recently celebrated the enrollment of its 1,100th patient in the summer of 2014 and continues to enroll an increasing number of patients each year. […] In the U.S. registry approximately half of patients imaged in multiple areas will have multi-vessel involvement. […] A major problem regarding the care of patients with FMD is the gap in time that exists between onset of symptoms and diagnosis.

• #41 Fibromuscular Dysplasia: Renewed Awareness and New Insights Regarding an Orphan Disease

  https://www.acc.org/latest-in-cardiology/articles/2015/02/27/08/54/fibromuscular-dysplasia-renewed-awareness-and-new-insights

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is due to abnormal cell growth (e.g., fibrosis) of the vessel wall. […] The etiology and prevalence of FMD remain unknown. […] The Fibromuscular Dysplasia Society of America (FMDSA) was founded in 2003. […] Funded by FMDSA, the United States Registry for Fibromuscular Dysplasia began enrolling patients in 2009. […] The registry recently celebrated the enrollment of its 1,100th patient in the summer of 2014 and continues to enroll an increasing number of patients each year. […] In the U.S. registry approximately half of patients imaged in multiple areas will have multi-vessel involvement. […] A major problem regarding the care of patients with FMD is the gap in time that exists between onset of symptoms and diagnosis.

• #42 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease that was once underrecognized and is significantly more prevalent in women than men. […] Despite once being considered a rare disease, this often-underdiagnosed disease may, in fact, affect up to 14% of all adult women. […] Much of what we know about FMD has come from national and international registry data. Currently, clinical registries such as the United States Registry for FMD and the European/International FMD Registry and Initiative are enrolling affected individuals to gain a better understanding of this disease. […] The mean age at diagnosis is 55.7 years, although patients may be affected at any age. […] Men comprise 10% or fewer of the FMD patient population and may present differently than women.

• #43 Coronary artery involvement in fibromuscular dysplasia (FMD): a review | Szkamruk | Arterial Hypertension

  https://journals.viamedica.pl/arterial_hypertension/article/view/96624/76089

  AbstractThis report reviews the current progress in understanding of clinical manifestation, epidemiology, diagnosis and treatment strategies in fibromuscular dysplasia (FMD) involving coronary arteries. […] The existing data of coronary arteries involvement of FMD is limited and based on case reports and studies encompassing small series of patients, mainly due to rare clinical manifestations of coronary FMD. However, when present, it may lead to serious clinical consequences including myocardial infarction or sudden cardiac death. […] Over the last decades, the progress in research and understanding of FMD have been driven by data from international registries and multicenter research collaborations, including The United States Registry (US Registry for FMD), French FMD Registry (ARCADIA Registry) and Polish FMD Registry (ARCADIA-POL study).

• #44 Top Published Expert Doctors for Fibromuscular Dysplasia

  https://www.findexpertmd.com/d/Fibromuscular_Dysplasia

  444 top medical experts on Fibromuscular Dysplasia across 37 countries and 32 U.S. states, including 343 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 13 including 6 Completed, 4 Recruiting.

• #45 Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases | Nature Communications

  https://www.nature.com/articles/s41467-021-26174-2

  Our study provides robust confirmation of the association with FMD of PHACTR1, a pleiotropic locus that is involved in a large number of vascular diseases. […] The genetic investigation of FMD has been inconclusive for decades due to the lack of a clear genetic model. […] Our study identified four loci contributing to FMD genetic risk. […] The look-up for the currently large list of SBP loci in our meta-analysis of GWAS only revealed one additional suggestive locus near FHL5, potentially reflecting the limited power of our datasets to detect additional loci using the existing list of SBP loci. […] We showed an expected positive genetic correlation between FMD and migraine, which is reported by 25-69% of FMD patients, and cervical artery dissection, which occurs in the same cerebrovascular beds affected in FMD.

• #46 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease that was once underrecognized and is significantly more prevalent in women than men. […] Despite once being considered a rare disease, this often-underdiagnosed disease may, in fact, affect up to 14% of all adult women. […] Much of what we know about FMD has come from national and international registry data. Currently, clinical registries such as the United States Registry for FMD and the European/International FMD Registry and Initiative are enrolling affected individuals to gain a better understanding of this disease. […] The mean age at diagnosis is 55.7 years, although patients may be affected at any age. […] Men comprise 10% or fewer of the FMD patient population and may present differently than women.

• #47 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  The great majority of affected men have renal involvement (up to 90%) and mesenteric involvement occurs more frequently in men than in women. […] Previous registry data show that a minority of patients are asymptomatic at the time of diagnosis. […] As time goes on and awareness of this disorder increases, the percentage of patients diagnosed incidentally is likely to increase as well. […] FMD is an arterial disease that consists of hyperplasia of the intimal and/or medial layers of predominantly medium-sized muscular arteries. […] Although there are still no formal diagnostic criteria for FMD, the First International Consensus of FMD outlines suggestions for when to consider FMD as a leading diagnosis. […] The international consensus on FMD recommends CT angiography (CTA) as the first-line imaging modality in patients with suspected FMD due to its superior spatial resolution and visualization of small calcifications.

• #48

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is a significant cause of secondary hypertension. Progression of fibromuscular dysplasia can lead to uncontrolled hypertension, renal insufficiency, strokes and rarely end-stage kidney disease. More frequently diagnosed in females and individuals between the ages of 30 and 50, the natural history and clinical demographics of fibromuscular dysplasia for individuals diagnosed at older age are not well understood currently. […] We identified and report a further 9 cases from the Salford fibromuscular dysplasia database, all of whom were aged 65 years on presentation. The mean age of this cohort was 69.5 years. All of the patients are females and of White ethnicity. […] Data from the European/International fibromuscular dysplasia registry of the first 1000 patients support the mean age of diagnosis 46-61 years with 12% of patients being 65 years old.

• #49

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  Bagh et al. aimed to determine the differences in clinical presentation between older (i.e. age 65 years) and younger multifocal fibromuscular dysplasia patients through the evaluation of baseline demographic and clinical data in the United States registry for fibromuscular dysplasia as of December 2016. […] Based on the study’s findings, Bagh et al. concluded that patients with multifocal fibromuscular dysplasia aged 65 years at time of diagnosis may have had a more benign clinical phenotype and were more likely to have fewer symptoms and fibromuscular dysplasia-associated complications. […] Evaluating current evidence and uncertainties, numerous areas surrounding fibromuscular dysplasia in the older population warrant further consideration and research. It remains unclear how hormonal changes and menopause may play a role in fibromuscular dysplasia.

• #50 Fibromuscular Dysplasia Disease of the Carotid Artery | IntechOpen

  https://www.intechopen.com/online-first/89654

  Fibromuscular dysplasia (FMD) affecting the carotid artery is an idiopathic, non-inflammatory, and non-atherosclerotic condition characterized by segmental arterial vessel wall abnormalities. […] Women show a higher prevalence of FMD. […] Despite ongoing research, the precise mechanism behind FMD development, involving genetic, mechanical, tobacco use, and hormonal factors, remains elusive. […] Due to its chronic nature, long-term follow-up with periodic imaging is crucial. […] In conclusion, Fibromuscular Dysplasia of the Carotid Artery requires a multidisciplinary approach for effective management. […] Approximately 80-90% of patients with FMD are women. […] The presentation and natural course of the disease in the pediatric population are quite different from those in adults, and the prevalence and manifestation of FMD in children are currently unknown.

• #51 A Pictorial Essay on Fibromuscular Dysplasia Imaging: Beyond the String of Beads

  https://clinmedjournals.org/articles/ijrit/international-journal-of-radiology-and-imaging-technology-ijrit-10-125.php

  FMD is more common in women among adults. There is no significant sex difference in the prevalence of FMD in children. The renal arteries are involved in ~75%-80% of cases, while the extracranial cerebrovascular arteries are in ~75% of the cases. […] FMD is often under diagnosed and has a delay to diagnosis of around four years. Most patients live a healthy and nearly unaffected life, although this is not guaranteed. Recently, there have been several reports of women who appeared healthy but acquired sudden coronary artery dissection due to their undiagnosed FMD. Furthermore, one study examined the recurrence of this condition with CORAL (Cardiovascular Outcomes in Renal Atherosclerotic Lesions) patients and surprisingly found that it was present in 5.8% of their patients. Overall, ambiguity prevails in the pathogenesis of the disease, and FMD, therefore, remains misunderstood.

• #52 Coronary artery involvement in fibromuscular dysplasia (FMD): a review | Szkamruk | Arterial Hypertension

  https://journals.viamedica.pl/arterial_hypertension/article/view/96624/76089

  In comparison, in 2016 Saw et al. analyzed 32 patients with confirmed FMD with coronary artery manifestation, most of the patients were females (88%) and the mean age was 59.4 9.9 years. […] In a study with 50 patients with SCAD, in which 86% had confirmed FMD, 49 patients were women and the mean age was 51 9.6 years, similarly to the data mentioned earlier, the prevalence of cardiovascular risk factors was relatively low. […] In the Canadian Registry, 411 of 750 enrolled patients with SCAD, were systematically evaluated and FMD was found in 56.7% of them. […] The etiology of FMD and its coronary manifestations remain unclear. It is believed that combination of genetic and environmental risk factors may play a causal role in this condition. […] The first family-based genetic reports, published decades ago, was difficult to conduct due to relatively low frequency of well-described multiplex pedigrees, incomplete penetrance (~0.5) and also absence of symptoms in most patients and their relatives.

• #53 Bringing Awareness to an Under-Recognized Medical Conundrum – Fibromuscular dysplasia: state of the science and critical unanswered questions – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/fibromuscular-dysplasia-state-of-the-science-and-critical-unanswered-questions/Commentary

  Fibromuscular dysplasia (FMD) is a non-inflammatory, arterial disease that most often affects women less than 65 years of age. The prevalence of FMD may be as high as 4% to 6% in the general population. Therefore, FMD could potentially affect millions of Americans. The natural history of and etiology for FMD are not well defined, although there are numerous reports of FMD in first-degree relatives. However, discrete genes linked to FMD have yet to be delineated. […] The United States (U.S.) FMD Registry revealed a higher than expected presence of thoracic or abdominal aortic aneurysms in patients with FMD. […] The U.S. FMD Registry represents a start towards garnering a broader and more collaborative understanding of FMD, but funding and federal support for more structured and meaningful prospective investigation of FMD remain extremely challenging.

• #54 Fibromuscular Dysplasia | UK Kidney Association

  https://www.ukkidney.org/rare-renal/clinician-information/fibromuscular-dysplasia

  Little is known about the prevalence of FMD within the different vascular beds, the risk and determinants of complications and progression of the disease. […] A history of FMD in at least another relative is reported in around 4% of cases, suggesting a possible genetic component, although the percentage has come down with time as numbers in the registries have increased. […] The FMD RDG will work with the Renal Association, UK Renal Registry and other RDGs to produce advice for commissioners that relate to the specific aspects of FMD as well as more general advice that relates to rare diseases, CKD and hypertension. […] The RDG will initially focus on a review of current evidence to provide guidance on current best practice on who to screen, family screening, managing children and adults with FMD, molecular testing, monitoring disease progression and management of hypertension. […] The UK FMD Study gained full ethical and final local sponsorship approval on 01/09/2022.

• #55 Is fibromuscular dysplasia genetic? | Decode DNA and learn risks!

  https://nebula.org/blog/is-fibromuscular-dysplasia-genetic/?srsltid=AfmBOoopGqWdy9s9shPMhrlPwc8RsyYHeVjp1EiIgQOu66fb9hOviuVq

  Experts do not entirely understand disease prevalence due to its rarity and the lack of symptoms in many people. […] Studies based in the United States estimate it affects 12 out of 100,000 individuals, with a much higher prevalence in women than men. […] Doctors typically diagnose FMD cases in middle-aged individuals, with a peak incidence when people are in their 50s and 60s. […] It can also affect younger women and accounts for 10% to 20% of the cases of renal artery stenosis. […] Fibromuscular dysplasia can occur sporadically or familial, with a reported prevalence of up to 20% in first-degree relatives of affected individuals. […] Familial FMD is most commonly inherited in an autosomal dominant pattern, but other ways of inheritance have also been described. […] Fibromuscular dysplasia is also more common among people with certain connective tissue disorders (e.g., Ehlers-Danlos syndrome). […] The paper above also cites the prevalence of renal FMD as 0.4 %, whereas craniocervical fibromuscular dysplasia is much lower at 0.1%. […] Among older hypertensive FMD patients who underwent renal angiography, scientists saw a prevalence of 5.8%.

• #56 Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases | Nature Communications

  https://www.nature.com/articles/s41467-021-26174-2

  Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. […] Based on angiographic examination of renal arteries in kidney donor cohorts the estimated prevalence of FMD is ~3%. […] We find significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease. […] FMD occurs predominantly in early middle-aged women (mean age at diagnosis 46-53 years), thus representing a subset of the population where cardiovascular and neurovascular disease present differently depending on sex. […] Hypertension is reported in a large proportion of patients with FMD in general, and in the majority of FMD cases in this study (51-85%).

• #57 Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases | Nature Communications

  https://www.nature.com/articles/s41467-021-26174-2

  Our study provides robust confirmation of the association with FMD of PHACTR1, a pleiotropic locus that is involved in a large number of vascular diseases. […] The genetic investigation of FMD has been inconclusive for decades due to the lack of a clear genetic model. […] Our study identified four loci contributing to FMD genetic risk. […] The look-up for the currently large list of SBP loci in our meta-analysis of GWAS only revealed one additional suggestive locus near FHL5, potentially reflecting the limited power of our datasets to detect additional loci using the existing list of SBP loci. […] We showed an expected positive genetic correlation between FMD and migraine, which is reported by 25-69% of FMD patients, and cervical artery dissection, which occurs in the same cerebrovascular beds affected in FMD.

• #58 Coronary artery involvement in fibromuscular dysplasia (FMD): a review | Szkamruk | Arterial Hypertension

  https://journals.viamedica.pl/arterial_hypertension/article/view/96624/76089

  In 1938, Leadbetter and Burkland reported the first case report of fibromuscular dysplasia in a 5.5-year-old boy with renovascular hypertension caused by an intra-arterial smooth muscle mass. The first report of coronary artery involvement in patient with confirmed FMD was published in 1965, where Hill and Antonius described the pathology and history of two patients with lesions in coronary arteries corresponding with fibromuscular dysplasia. Up to now, the data on coronary arteries involvement in patients with FMD rely on case reports and studies of small series of patients with clinically overt coronary FMD. […] The true prevalence of FMD, as well as broader diagnostic criteria which would encompass asymptomatic patients remain unknown. […] The data of patients with confirmed FMD enrolled in U.S. Registry and European Registries for FMD share many similarities in terms of demographics and clinical characteristics. The mean age at diagnosis for FMD was 51.953 13.4 years and 8491% were females, respectively.

• #59

  https://journals.lww.com/jhypertension/fulltext/2023/04000/prevalence_and_clinical_characteristics_of.13.aspx

  The main findings in the present study were that in Chinese patients, renovascular hypertension associated with FMD occurred primarily in younger patients, with little sex predilection and frequently as a focal type. In addition, focal renal artery FMD had a lower hypertension cure rate. […] The rate of cure of hypertension after angioplasty was 60.1%, which is higher than that reported in some previous reports but lower than others. […] In our study, the hypertension cure rate was higher in patients with multifocal FMD (71.7%) than in those with focal FMD (55.8%). […] These results suggested that the renal angiographic classification might influence the BP outcome. Young renovascular hypertensive patients with multifocal renal artery FMD had a better BP outcome after PTRA.

• #60 Fibromuscular Dysplasia: Renewed Awareness and New Insights Regarding an Orphan Disease

  https://www.acc.org/latest-in-cardiology/articles/2015/02/27/08/54/fibromuscular-dysplasia-renewed-awareness-and-new-insights

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic arterial disease that is due to abnormal cell growth (e.g., fibrosis) of the vessel wall. […] The etiology and prevalence of FMD remain unknown. […] The Fibromuscular Dysplasia Society of America (FMDSA) was founded in 2003. […] Funded by FMDSA, the United States Registry for Fibromuscular Dysplasia began enrolling patients in 2009. […] The registry recently celebrated the enrollment of its 1,100th patient in the summer of 2014 and continues to enroll an increasing number of patients each year. […] In the U.S. registry approximately half of patients imaged in multiple areas will have multi-vessel involvement. […] A major problem regarding the care of patients with FMD is the gap in time that exists between onset of symptoms and diagnosis.

• #61 A Pictorial Essay on Fibromuscular Dysplasia Imaging: Beyond the String of Beads

  https://clinmedjournals.org/articles/ijrit/international-journal-of-radiology-and-imaging-technology-ijrit-10-125.php

  FMD is more common in women among adults. There is no significant sex difference in the prevalence of FMD in children. The renal arteries are involved in ~75%-80% of cases, while the extracranial cerebrovascular arteries are in ~75% of the cases. […] FMD is often under diagnosed and has a delay to diagnosis of around four years. Most patients live a healthy and nearly unaffected life, although this is not guaranteed. Recently, there have been several reports of women who appeared healthy but acquired sudden coronary artery dissection due to their undiagnosed FMD. Furthermore, one study examined the recurrence of this condition with CORAL (Cardiovascular Outcomes in Renal Atherosclerotic Lesions) patients and surprisingly found that it was present in 5.8% of their patients. Overall, ambiguity prevails in the pathogenesis of the disease, and FMD, therefore, remains misunderstood.

• #62 Renal Artery Fibromuscular Dysplasia Update – Endovascular Today

  https://evtoday.com/articles/2012-feb/renal-artery-fibromuscular-dysplasia-update

  Noninvasive imaging modalities such as computed tomographic angiography (CTA) and magnetic resonance angiography (MRA) have led to more frequent incidental findings of FMD. Because FMD is asymptomatic in a significant number of patients, it is increasingly first identified in older patients who may also have concomitant atherosclerosis or are being imaged for another reason. Patients who are diagnosed with FMD at a more advanced age usually have had a longer duration of hypertension, and angioplasty is less likely to result in a cure of hypertension. […] Although there have been significant strides made during the past several years toward educating physicians and patients about the disease, FMD still remains frequently underdiagnosed, misdiagnosed, and inappropriately treated. Noninvasive imaging to screen for renal artery FMD should be considered if one or more of the following is found: Evidence for FMD in any other arterial bed, such as the carotid or vertebral arteries; The presence of an abdominal bruit and hypertension; Dissection or aneurysm of a renal, mesenteric, carotid, vertebral, or intracranial artery; Onset of hypertension in young individuals aged 35 or younger; Inability to control the blood pressure with a good triple-drug regimen.

• #63 Fibromuscular Dysplasia: Renewed Awareness and New Insights Regarding an Orphan Disease

  https://www.acc.org/latest-in-cardiology/articles/2015/02/27/08/54/fibromuscular-dysplasia-renewed-awareness-and-new-insights

  According to data from 2011, roughly half of patients in the U.S. registry have undergone a vascular procedure for FMD, most commonly balloon angioplasty of the renal arteries. […] Lessons learned from the U.S. registry for FMD and other research studies have informed the clinical care of FMD patients. […] There is also a need for increased awareness of FMD and its symptoms to reduce the delay to diagnosis that currently exists so that FMD patients can receive quality care from providers familiar with this uncommon disease. […] Topics of interest included FMD genetics, epidemiology, registry research, and imaging and clinical management.

• #64 Renal Artery Fibromuscular Dysplasia Update – Endovascular Today

  https://evtoday.com/articles/2012-feb/renal-artery-fibromuscular-dysplasia-update

  Noninvasive imaging modalities such as computed tomographic angiography (CTA) and magnetic resonance angiography (MRA) have led to more frequent incidental findings of FMD. Because FMD is asymptomatic in a significant number of patients, it is increasingly first identified in older patients who may also have concomitant atherosclerosis or are being imaged for another reason. Patients who are diagnosed with FMD at a more advanced age usually have had a longer duration of hypertension, and angioplasty is less likely to result in a cure of hypertension. […] Although there have been significant strides made during the past several years toward educating physicians and patients about the disease, FMD still remains frequently underdiagnosed, misdiagnosed, and inappropriately treated. Noninvasive imaging to screen for renal artery FMD should be considered if one or more of the following is found: Evidence for FMD in any other arterial bed, such as the carotid or vertebral arteries; The presence of an abdominal bruit and hypertension; Dissection or aneurysm of a renal, mesenteric, carotid, vertebral, or intracranial artery; Onset of hypertension in young individuals aged 35 or younger; Inability to control the blood pressure with a good triple-drug regimen.

• #65 Screening for fibromuscular dysplasia after spontaneous coronary artery dissection unmasks a massive right renal artery aneurysm requiring ex vivo surgical resection and autotransplantation | BMJ Case Reports

  https://casereports.bmj.com/content/18/3/e263132

  Proactive angiographic screening is recommended in all cases of SCAD because of its common association with FMD. When such screening is undertaken prospectively, FMD is found in 45-72% of cases. […] Although FMD has not been found to be a predictor for SCAD recurrences, it is a risk factor for an SCAD occurrence. […] Finally, given that the internal iliac graft supplying the right iliac fossa autotransplanted kidney is also possibly affected by FMD, although without stenoses, careful surveillance with regular CT angiography or Doppler ultrasonography, generally every 6 to 12 months, is advisable.

• #66 Sex and Gender Differences in Fibromuscular Dysplasia | USC Journal

  https://www.uscjournal.com/articles/sex-and-gender-differences-fibromuscular-dysplasia?language_content_entity=en

  Catheter-based angiography remains the gold standard imaging technique for diagnosing and evaluating the location and morphology of FMD. […] Management of FMD is dependent on vascular bed involvement, severity, associated complications of aneurysms and dissections, and consideration of symptoms. […] Counseling, personalized and routine surveillance measures, medical therapy and, less commonly, surgical intervention comprise the mainstays of FMD management. […] The question of whether family members of patients with FMD should be screened for the disease is a frequent one. […] At this time, it is not recommended to screen asymptomatic family members of patients with FMD. […] For family members who are symptomatic, shared decision-making between the family member and a provider is recommended to determine whether a workup is warranted. […] Current ongoing registries such as the US Registry for Fibromuscular Dysplasia and the European/International FMD Registry and Initiative are gathering data on thousands of patients.

• #67 Fibromuscular Dysplasia | UK Kidney Association

  https://www.ukkidney.org/rare-renal/clinician-information/fibromuscular-dysplasia

  Little is known about the prevalence of FMD within the different vascular beds, the risk and determinants of complications and progression of the disease. […] A history of FMD in at least another relative is reported in around 4% of cases, suggesting a possible genetic component, although the percentage has come down with time as numbers in the registries have increased. […] The FMD RDG will work with the Renal Association, UK Renal Registry and other RDGs to produce advice for commissioners that relate to the specific aspects of FMD as well as more general advice that relates to rare diseases, CKD and hypertension. […] The RDG will initially focus on a review of current evidence to provide guidance on current best practice on who to screen, family screening, managing children and adults with FMD, molecular testing, monitoring disease progression and management of hypertension. […] The UK FMD Study gained full ethical and final local sponsorship approval on 01/09/2022.

• #68 Fibromuscular Dysplasia Disease of the Carotid Artery | IntechOpen

  https://www.intechopen.com/online-first/89654

  Vascular imaging remains the primary method for diagnosing Carotid Artery Fibromuscular Dysplasia (CaFMD). […] Doppler USG continues to be the first-line screening test for CaFMD. […] Carotid Doppler USG may be useful for the intermittent monitoring and surveillance of patients with CaFMD. […] After detecting CaFMD, patients should be followed up at least annually, with more frequent monitoring for those with severe symptoms or the disease. […] Specific algorithms for follow-up imaging methods for CaFMD patients are currently insufficient. […] However, in experienced centers, non-invasive monitoring with Doppler ultrasound can be performed frequently in appropriate patients. […] Studies are needed to increase the number of genes associated with FMD, examine familial factors, and apply different genetic methods in screenings.

• #69

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  Bagh et al. aimed to determine the differences in clinical presentation between older (i.e. age 65 years) and younger multifocal fibromuscular dysplasia patients through the evaluation of baseline demographic and clinical data in the United States registry for fibromuscular dysplasia as of December 2016. […] Based on the study’s findings, Bagh et al. concluded that patients with multifocal fibromuscular dysplasia aged 65 years at time of diagnosis may have had a more benign clinical phenotype and were more likely to have fewer symptoms and fibromuscular dysplasia-associated complications. […] Evaluating current evidence and uncertainties, numerous areas surrounding fibromuscular dysplasia in the older population warrant further consideration and research. It remains unclear how hormonal changes and menopause may play a role in fibromuscular dysplasia.

• #70

  https://link.springer.com/article/10.1007/s40620-024-02039-x

  It would be important to establish applicable algorithms to guide clinicians in local practice in relation to this, as timely clinical decision-making and intervention would be instrumental in lowering the risk of adverse cardiovascular and vascular complications, and improving survival outcomes. […] Early investigation of at-risk older adults presenting with uncontrolled hypertension and lower thresholds for screening with imaging tests (i.e. CT/MR angiogram) should be encouraged, to reduce false negatives and aid early diagnosis. […] Whilst current standard management of fibromuscular dysplasia involves prescription of antiplatelet agents and renin-angiotensin system blockade for blood pressure control and angioplasty in cases of resistant hypertension, perhaps the involvement of a multidisciplinary fibromuscular dysplasia care team would be more pertinent in older adults for an individualised approach in managing this uncommon condition.

• #71 Bringing Awareness to an Under-Recognized Medical Conundrum – Fibromuscular dysplasia: state of the science and critical unanswered questions – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/fibromuscular-dysplasia-state-of-the-science-and-critical-unanswered-questions/Commentary

  Fibromuscular dysplasia (FMD) is a non-inflammatory, arterial disease that most often affects women less than 65 years of age. The prevalence of FMD may be as high as 4% to 6% in the general population. Therefore, FMD could potentially affect millions of Americans. The natural history of and etiology for FMD are not well defined, although there are numerous reports of FMD in first-degree relatives. However, discrete genes linked to FMD have yet to be delineated. […] The United States (U.S.) FMD Registry revealed a higher than expected presence of thoracic or abdominal aortic aneurysms in patients with FMD. […] The U.S. FMD Registry represents a start towards garnering a broader and more collaborative understanding of FMD, but funding and federal support for more structured and meaningful prospective investigation of FMD remain extremely challenging.

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