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. FMD is an idiopathic, non-inflammatory, non-atherosclerotic disease commonly involving renal and carotid arteries; however, it can affect any arterial bed. FMD classically presents as renovascular hypertension but can also manifest as stroke in young adults. Early diagnosis and treatment are important for a long-term prognosis. […] The etiology of fibromuscular dysplasia (FMD) is unclear despite extensive research. Environmental and genetic factors have been associated with FMD. […] Despite all the possible explanations, the etiology of FMD remains elusive. […] Fibromuscular dysplasia (FMD) can affect any artery. FMD is a segmental, non-atherosclerotic disease affecting the musculature of the small- and medium-sized arterial walls and causing stenosis, aneurysms or dissections of the vascular territories. […] Hypertension in renal FMD is hypothesized to be from secondary activation of the renin-angiotensin-aldosterone system, though some studies argue against this theory.

• #2 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. FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] The casual link between FMD and aneurysms is less clear but is possibly related to an underlying connective tissue problem that results in loss of arterial wall strength. This wall weakness may allow for vessel dilation (aneurysm formation and beading in FMD) as well as injury, which then causes compensatory fibroplasia. […] FMD lesions likely predispose the artery to dissection through weakening of the arterial wall.

• #3 Arterial fibromuscular dysplasia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3309488/

  Fibromuscular dysplasia is a nonatherosclerotic, noninflammatory vascular disease that involves primarily the renal and internal carotid arteries and less often the vertebral, iliac, subclavian, and visceral arteries. […] Although its pathogenesis is not completely understood, humoral, mechanical, and genetic factors as well as mural ischemia may play a role.

• #4 Fibromuscular dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Fibromuscular_dysplasia

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels that causes abnormal growth within the wall of an artery. […] While the cause of FMD remains unclear, current theory suggests that there may be a genetic predisposition as case reports have identified clusters of the disease and prevalence among twins. […] It is believed that there is not a single cause of FMD, but that there are multiple underlying factors. There are theories of effects of hormonal influence, mechanical stress from trauma and stress to the artery walls, and loss of oxygen supply to the blood vessel wall caused by fibrous lesions. […] FMD can be found in almost every artery in the human body, but most often affects the carotid, vertebral, renal arteries and even those that supply the intestines, arms, and legs.

• #5 Fibromuscular Dysplasia and Stroke

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

  The pathophysiology of FMD is poorly understood, although histologic evidence suggests a defective transformation of smooth muscle cell fibroblasts leads to degradation of the elastic laminae, aberrant collagen synthesis, and segmental fibroplasia. […] Strong evidence supports the heritability of FMD with high coprevalence of FMD in twins and first-degree relatives, although there are no known single-gene forms. […] Recent genome-wide association studies identified the first gene locus associated with FMD, a single nucleotide polymorphism (rs9349379) in the phosphatase and actin regulator 1 gene (PHACTR1) on chromosome 6. […] This variant is also associated with migraine, cervical artery dissection (CeAD), and spontaneous coronary artery dissection, and is inversely associated with atheromatous coronary artery disease and calcification.

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

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

  Although the multiple manifestations of a structural arteriopathy in FMD hint of a genetic cause, such as collagen or elastin mutation, epidemiologic data suggesting familial transmission are generally weak. […] The increased incidence of FMD in women as compared with men suggests a possible hormonal or genetic influence. […] Many reports exist of familial occurrences of FMD, mostly in siblings. […] In case reports, FMD has been associated with mutations in collagen, with cutis laxa, and with alpha1-antitrypsin deficiency.

• #7 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 etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. […] It appears to be familial in 10% of cases. […] Renal artery FMD has been tentatively associated with environmental factors and it is likely that there is a genetic predisposition. […] The occurrence of renal FMD in sib pairs or identical twins suggests its possible inheritability. […] However, familial detection based on angiography is not practicable in relatives who are normotensive or asymptomatic. […] The major aims of current research are to unravel the pathophysiological mechanisms of FMD; to seek gene(s) that predispose to the condition; to assess more accurately the risk of disease progression in focal or multifocal FMD, and in FMD affecting renal or extrarenal arteries; and to improve the detection and quantification of renal artery stenoses.

• #8 Fibromuscular dysplasia | MedLink Neurology

  https://www.medlink.com/articles/fibromuscular-dysplasia

  The etiology of fibromuscular dysplasia is not known. Several causes have been hypothesized, including congenital or inherited disorder, immunologic or humoral disturbance, ischemic or mechanical injury, or a viral etiology. […] The occurrence of families with several members afflicted by fibromuscular dysplasia supports the congenital inherited disorder hypothesis. […] The phosphatase and actin regulator 1 gene (PHACTR1) may influence transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. […] A formal pedigree analysis conducted in 20 families revealed vertical disease transmission afflicting both sexes. This inheritance pattern was most consistent with an autosomal dominant trait with variable penetrance. […] Proponents of an ischemic or mechanical injury theory argue that the abnormalities seen in fibromuscular dysplasia may be explained by recurrent mechanical or thrombotic obliteration of the vaso vasorum from repeated microtrauma, leading to mural ischemia and subsequent cell mutation.

• #9 Fibromuscular Dysplasia and Stroke

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

  The pathophysiology of FMD is poorly understood, although histologic evidence suggests a defective transformation of smooth muscle cell fibroblasts leads to degradation of the elastic laminae, aberrant collagen synthesis, and segmental fibroplasia. […] Strong evidence supports the heritability of FMD with high coprevalence of FMD in twins and first-degree relatives, although there are no known single-gene forms. […] Recent genome-wide association studies identified the first gene locus associated with FMD, a single nucleotide polymorphism (rs9349379) in the phosphatase and actin regulator 1 gene (PHACTR1) on chromosome 6. […] This variant is also associated with migraine, cervical artery dissection (CeAD), and spontaneous coronary artery dissection, and is inversely associated with atheromatous coronary artery disease and calcification.

• #10 What is Fibromuscular Dysplasia | FMD FAQs & Types of Fibromuscular Dysplasia Information | University Hospitals

  https://www.uhhospitals.org/services/heart-and-vascular-services/conditions-and-treatments/vascular-disease/fibromuscular-dysplasia-program/fibromuscular-dysplasia

  Fibromuscular dysplasia, commonly referred to as FMD, is an uncommon vascular disease that causes abnormalities in the medium-sized arteries of the body. FMD is not caused by plaque buildup in the arteries (i.e., it is not due to atherosclerosis, the most common cause of artery disease) and is also not due to vessel inflammation (or vasculitis) or blood clots. […] In addition to multifocal and focal lesions in the arteries, it has recently been recognized that FMD can cause other artery problems, including artery tears (dissections), bulging of arteries (aneurysms), and a twisty appearance of the arteries (tortuosity). […] Though there is likely a genetic component to the development of FMD, specific genetic factors have not been fully determined. Recent research has found an increased risk of FMD associated with a variant of a gene known as PHACTR1. […] The role of hormones in the development of FMD is still uncertain. The development of FMD is thought to be potentially linked to exposure to female sex hormones as the large majority of patients with multifocal FMD are women.

• #11 Fibromuscular Dysplasia and Stroke

  https://practicalneurology.com/diseases-diagnoses/stroke/fibromuscular-dysplasia-and-stroke/31615/

  The pathophysiology of FMD is poorly understood, although histologic evidence suggests a defective transformation of smooth muscle cell fibroblasts leads to degradation of the elastic laminae, aberrant collagen synthesis, and segmental fibroplasia. […] Strong evidence supports the heritability of FMD with high coprevalence of FMD in twins and first-degree relatives, although there are no known single-gene forms. […] Recent genome-wide association studies identified the first gene locus associated with FMD, a single nucleotide polymorphism (rs9349379) in the phosphatase and actin regulator 1 gene (PHACTR1) on chromosome 6. […] This variant is also associated with migraine, cervical artery dissection (CeAD), and spontaneous coronary artery dissection, and is inversely associated with atheromatous coronary artery disease and calcification.

• #12 Fibromuscular Dysplasia and Stroke

  https://practicalneurology.com/diseases-diagnoses/stroke/fibromuscular-dysplasia-and-stroke/31615/

  The PHACTR1 variant is known to regulate the expression of endothelin-1, an endogenous vasoconstrictor. […] 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. […] The estimated incidence of CeAD in the general population is 2 to 3 per 100,000, although the actual incidence is likely higher in people with FMD and other predisposing connective tissue vasculopathies. […] Coprevalence of CeAD and cerebrocervical FMD ranges from 5% to 15% in observational studies, and is higher in those presenting with multiple CeAD.

• #13 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. […] While atherosclerosis has been widely studied and its genetic architecture has been well defined, little is known about the pathogenesis or genetics of FMD. […] We report four loci (PHACTR1, LRP1, ATP2B1, and LIMA1) that are associated with FMD, in addition to SLC24A3 identified through transcriptome-wide association studies of arterial transcriptomes from the GTEx database. […] We find that risk genes for FMD are consistently expressed in smooth muscle cells, fibroblasts, and arterial tissues. These genes are involved in regulatory mechanisms related to actin cytoskeleton and intracellular calcium homoeostasis, a mechanism central to vascular contraction.

• #14 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. […] While atherosclerosis has been widely studied and its genetic architecture has been well defined, little is known about the pathogenesis or genetics of FMD. […] We report four loci (PHACTR1, LRP1, ATP2B1, and LIMA1) that are associated with FMD, in addition to SLC24A3 identified through transcriptome-wide association studies of arterial transcriptomes from the GTEx database. […] We find that risk genes for FMD are consistently expressed in smooth muscle cells, fibroblasts, and arterial tissues. These genes are involved in regulatory mechanisms related to actin cytoskeleton and intracellular calcium homoeostasis, a mechanism central to vascular contraction.

• #15 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

  Finally, using linkage disequilibrium score regression, we report an estimate of single nucleotide polymorphism (SNP)-based heritability compatible with FMD having a polygenic basis, and an important genetic overlap with blood pressure, migraine, intracranial aneurysm, and coronary artery disease (CAD). […] The genetic investigation of FMD has been inconclusive for decades due to the lack of a clear genetic model. Here we provide an estimated SNP heritability of 0.43 in its multifocal form, suggesting a polygenic basis of this neglected and underdiagnosed vascular disease. […] Our study identified four loci contributing to FMD genetic risk. Most of these loci were previously shown to be involved in multiple vascular diseases. […] Interestingly, two of the genes we identified are involved in intracellular calcium homoeostasis, a highly relevant molecular mechanism for vascular contractility and vasodilation.

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

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

  Fibromuscular dysplasia (FMD) results from abnormal development of the arterial cell wall, most commonly the vessel media and less commonly the vessel intima. […] The mechanisms underlying the pathogenesis of FMD are still poorly understood, and its development is likely related to a combination of genetic and environmental factors. […] There seems to be a hormonal component to the pathogenesis of FMD, as most patients with this condition are women: approximately 91.5% of patients enrolled in the US Registry. […] While studies have suggested a genetic component to the development of FMD, the specific genetic mechanisms are unknown. […] These studies suggest some overlap of FMD and other vascular connective tissue disorders, as well as the likelihood that the arterial manifestations of FMD may develop through multiple potential genetic pathways.

• #17 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. […] Studies are still underway to examine the genetic underpinnings of FMD pathophysiology and to evaluate the underlying mechanism of this disease that affects more female than male patients. […] The pathogenesis of FMD continues to be poorly understood. Studies indicate that a combination of environmental, hormonal, genetic, and mechanical factors contribute to disease development. […] While the molecular basis is still being investigated, the most common environmental and hormonal factors that have been thought to be associated with FMD include smoking and exposure to endogenous or exogenous female hormones. […] It has also been postulated that increased levels of estrogen predispose to the development of FMD, although the exact mechanism remains unclear given that high estrogen states such as pregnancy or the use of oral contraceptives and exogenous female hormones do not predispose women to FMD or FMD-associated complications.

• #18 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. […] Studies are still underway to examine the genetic underpinnings of FMD pathophysiology and to evaluate the underlying mechanism of this disease that affects more female than male patients. […] The pathogenesis of FMD continues to be poorly understood. Studies indicate that a combination of environmental, hormonal, genetic, and mechanical factors contribute to disease development. […] While the molecular basis is still being investigated, the most common environmental and hormonal factors that have been thought to be associated with FMD include smoking and exposure to endogenous or exogenous female hormones. […] It has also been postulated that increased levels of estrogen predispose to the development of FMD, although the exact mechanism remains unclear given that high estrogen states such as pregnancy or the use of oral contraceptives and exogenous female hormones do not predispose women to FMD or FMD-associated complications.

• #19 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  In Fibromuscular dysplasia, the proliferation of vascular smooth muscle of one or more small or medium-sized arteries undergo dysplasia and cause stenosis. this abnormal cellular development is characterized by fibrous thickening of the intima, media, or adventitia of the involved arteries; which ultimately lead to arterial narrowing. […] Despite numerous genetic, hormonal and mechanical factors have been proposed, the etiology of fibromuscular dysplasia remains unknown. A variety of factors have been implicated. These include: […] Some studies suggest fibromuscular dysplasia is a systemic disease with altered TGF- expression and connective tissue features. […] Hormonal influence, The increased incidence of FMD in women as compared with men suggests a possible hormonal given the predominance in women of childbearing age but no association has been found between fibromuscular dysplasia and previous use of oral contraceptives or abnormalities of endogenous sex hormones.

• #20 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  Some authors have proposed the sex difference to be related to immune system functioning, but overt inflammation, as is observed in most classic autoimmune diseases, is histologically lacking. […] Mechanical factors due to stretching of smooth muscle cells and microtrauma to the vessel wall. […] Ischemia due to fibrotic occlusion of the vasa vasorum. […] Genetic predisposition may play a role in the development of fibromuscular dysplasia. Owing to, FMD is more common among the first-degree relatives of patients with this condition. […] Some studies showed an autosomal dominant transmission pattern for fibromuscular dysplasia; however, as of yet, no etiologic genes have been identified for this disease. Applying molecular genetics investigations will reveal information about FMD pathogenesis, and family-based studies, evaluating genome of candidates, and wide genome studies can help to recognize pathophysiology of FMD.

• #21 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  Some authors have proposed the sex difference to be related to immune system functioning, but overt inflammation, as is observed in most classic autoimmune diseases, is histologically lacking. […] Mechanical factors due to stretching of smooth muscle cells and microtrauma to the vessel wall. […] Ischemia due to fibrotic occlusion of the vasa vasorum. […] Genetic predisposition may play a role in the development of fibromuscular dysplasia. Owing to, FMD is more common among the first-degree relatives of patients with this condition. […] Some studies showed an autosomal dominant transmission pattern for fibromuscular dysplasia; however, as of yet, no etiologic genes have been identified for this disease. Applying molecular genetics investigations will reveal information about FMD pathogenesis, and family-based studies, evaluating genome of candidates, and wide genome studies can help to recognize pathophysiology of FMD.

• #22 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 cause and pathophysiology of FMD are still unknown. […] FMDs pathophysiology remains unclear. Some authors suggest a role played by estrogenic impregnation given the female predominance. The predominance of right renal artery lesions suggests a mechanical component because the right kidney is more mobile than the left one; the mechanism may involve compression of the vasa vasorum leading to ischaemia. […] There are relatively few in the carotid and renal arteries, possibly a feature of FMD. […] Autosomal dominant transmission with incomplete penetrance and variable expressivity is suggested in 6-10% familial types; no specific gene has been identified, though. […] Moreover, a study performed over 9 years in 106 patients who had repeated angiograms showed either a progression or a stabilisation of FMD lesions but no lesion regression was seen.

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

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

  Tobacco use has been identified as a potential pathogenic factor associated with FMD. […] Mechanical factors may contribute to the formation of FMD in the middle and distal internal carotid arteries, although specific mechanisms remain unknown. Recent studies have indicated that transforming growth factor (TGF)-1 and TGF-2 produced by dermal fibroblast cells and lysophosphatidylcholine (lisoPC), a pro-inflammatory and pro-apoptotic lipid mediator, could potentially be associated with FMD pathogenesis.

• #24 Fibromuscular Dysplasia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/21736

  The etiology of fibromuscular dysplasia (FMD) is unclear despite extensive research. Environmental and genetic factors have been associated with FMD. Biggazi et al. reported bilateral FMD in identical twins, raising the possibility of inheritance. […] Environmental influences include smoking, with a retrospective analysis showing more smokers among FMD patients. […] FMD may be associated with other disorders like Marfan syndrome, tuberous sclerosis, Alport syndrome, medullary sponge kidney, pheochromocytoma, collagen 3 glomerulopathy, cystic medial necrosis, coarctation of the aorta, alpha-1 antitrypsin deficiency, Ehlers-Danlos syndrome, neurofibromatosis type 1, and Williams syndrome. […] Fibromuscular dysplasia (FMD) can affect any artery. […] FMD is a segmental, non-atherosclerotic disease affecting the musculature of the small- and medium-sized arterial walls and causing stenosis, aneurysms or dissections of the vascular territories. […] Hypertension in renal FMD is hypothesized to be from secondary activation of the renin-angiotensin-aldosterone system, though some studies argue against this theory.

• #25 Fibromuscular dysplasia: Treatment, symptoms, and causes

  https://www.medicalnewstoday.com/articles/fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a rare vascular disease that causes extra cells to grow within the walls of a persons arteries. This can cause the arteries to narrow and may cause them to tear. […] FMD is a rare disease that affects the arteries. It causes abnormal cell development in the walls of the arteries. […] This causes the affected arteries to narrow. It may also cause tears to appear in the artery wall. Tears and narrowing of arteries can restrict blood flow through these arteries. […] The exact causes of FMD are unknown. However, there are some common theories as to what causes FMD. […] FMD is far more common in females than males. Some scientists theorize hormones may play an important role in the development of the disease. […] Smoking may play a role in the development of FMD. There is a higher proportion of smokers among people with FMD than in the general population.

• #26 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  Some authors have proposed the sex difference to be related to immune system functioning, but overt inflammation, as is observed in most classic autoimmune diseases, is histologically lacking. […] Mechanical factors due to stretching of smooth muscle cells and microtrauma to the vessel wall. […] Ischemia due to fibrotic occlusion of the vasa vasorum. […] Genetic predisposition may play a role in the development of fibromuscular dysplasia. Owing to, FMD is more common among the first-degree relatives of patients with this condition. […] Some studies showed an autosomal dominant transmission pattern for fibromuscular dysplasia; however, as of yet, no etiologic genes have been identified for this disease. Applying molecular genetics investigations will reveal information about FMD pathogenesis, and family-based studies, evaluating genome of candidates, and wide genome studies can help to recognize pathophysiology of FMD.

• #27 Fibromuscular dysplasia | MedLink Neurology

  https://www.medlink.com/articles/fibromuscular-dysplasia

  The etiology of fibromuscular dysplasia is not known. Several causes have been hypothesized, including congenital or inherited disorder, immunologic or humoral disturbance, ischemic or mechanical injury, or a viral etiology. […] The occurrence of families with several members afflicted by fibromuscular dysplasia supports the congenital inherited disorder hypothesis. […] The phosphatase and actin regulator 1 gene (PHACTR1) may influence transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. […] A formal pedigree analysis conducted in 20 families revealed vertical disease transmission afflicting both sexes. This inheritance pattern was most consistent with an autosomal dominant trait with variable penetrance. […] Proponents of an ischemic or mechanical injury theory argue that the abnormalities seen in fibromuscular dysplasia may be explained by recurrent mechanical or thrombotic obliteration of the vaso vasorum from repeated microtrauma, leading to mural ischemia and subsequent cell mutation.

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

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

  There is also an abundance of studies on the underlying genetic basis and the effects of molecular pathways on the development of FMD. […] Transforming growth factor (TGF)- pathways have been investigated as potential pathogenic factors in the development of FMD as a systemic disease. […] Abnormal TGF- activity may enhance collagen production, which decreases the arterial wall elasticity and predisposes patients to arterial complications. […] Limited data on further association exist and there is still much to be studied regarding the complex genetic patterns of inheritance of FMD.

• #29 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  The potential involvement of TGF-b pathways in the pathogenesis of FMD is an area for future investigation, especially as this pathway could provide a potential target for disease-modifying medical therapies. […] In some case reports, the association of FMD with neurofibromatosis, Alport syndrome, and pheochromocytoma have been considered; And mutations in collagen, and with alpha1-antitrypsin deficiency have also been suggested.

• #30 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. […] Researchers have also begun to explore the pathophysiological mechanisms of FMD, its genetics, and its potential relationship to other connective tissue disorders. […] The genetic mechanism underlying FMD is a focus of ongoing research studies in the U.S. and France. Assessment of plasma levels and dermal fibroblasts from 47 individuals with FMD revealed an association with elevated expression of transcription growth factors TGF-1 and TGF-2. […] Recent findings have reported a correlation between FMD and spontaneous coronary artery dissection. These studies illustrated a high occurrence of spontaneous coronary artery dissection (SCAD) patients with FMD in multiple vascular beds, including the renal, carotid, and iliac arteries. […] The existence of tortuosity and redundancy, with S-curvature, of the internal carotid arteries (ICA) in FMD patients is a more recent discovery. […] Lessons learned from the U.S. registry for FMD and other research studies have informed the clinical care of FMD patients.

• #31 Fibromuscular Dysplasia (FMD) – LA Vascular

  https://lavascular.com/fibromuscular-dysplasia-fmd/

  Pathological changes can be detected in all 3 layers of the arterial wall, according to which there are intimal, medial and adventitial types of FMD. The intimal type occurs in 12% of FMD and is characterized by the accumulation of fibrous tissue in the intima with a moderate number of cells. The internal elastic membrane is preserved, but often split. Medial type FMD is the most common (60-90%) and is represented by areas of degeneration of elastic fibers in the media with their replacement by loose collagen, which alternates with areas of loss of muscle fibers and expansion of the lumen of the artery, in the area of which damage to the internal elastic membrane is noted. […] Recent studies have found increased secretion of transforming growth factor (TGF)-1 and TGF-2 by skin fibroblast cell lines in patients with FMD compared with controls. The potential involvement of TGF- pathways in the pathogenesis of FMD is an area for future research.

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

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

  There is also an abundance of studies on the underlying genetic basis and the effects of molecular pathways on the development of FMD. […] Transforming growth factor (TGF)- pathways have been investigated as potential pathogenic factors in the development of FMD as a systemic disease. […] Abnormal TGF- activity may enhance collagen production, which decreases the arterial wall elasticity and predisposes patients to arterial complications. […] Limited data on further association exist and there is still much to be studied regarding the complex genetic patterns of inheritance of FMD.

• #33 The Coexistence of Fibromuscular Dysplasia of the Renal Artery and Graves’ Disease in an Adolescent: A Case Report

  https://jsms.sch.ac.kr/journal/view.php?number=647

  Although fibromuscular dysplasia and Graves disease have independent etiological theories, when diagnosed concurrently, consideration should be given to the correlation of the occurrence and progression between Graves disease and fibromuscular dysplasia. […] Recent studies have suggested that fibromuscular dysplasia exhibits inflammatory progression during its early stages, challenging the main characteristic as a non-inflammatory condition and instead postulating its characterization as an inflammatory systemic disease. […] Transforming growth factor- (TGF-) has been identified as a likely participant in the inflammatory process of fibromuscular dysplasia. […] In fibromuscular dysplasia, TGF- which can induce arterial remodeling may indirectly influence arterial stenosis by interacting with inflammatory processes involving interleukin (IL)-17 and IL-9, leading to fibrosis.

• #34 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

  The relevance of impaired vasodilation and/or enhanced vasoconstriction in FMD pathogenesis is supported by our recent study where we reported an enrichment among FMD patients for rare loss-of-function mutations in the gene encoding the receptor for prostacyclin, a major vasodilator hormone. […] 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. […] Through genetic correlation analyses, we were able to globally position the genetic basis of FMD among the genetics of more commonly studied CVDs and traits. […] The elimination of the presence of atherosclerosis as the cause of stenoses and aneurysms is required for FMD diagnosis, which may have influenced this negative correlation with a disease where atherosclerosis is underrepresented. […] Further investigation of the exact biological effects driven by these genes may shed light on the cause of the higher prevalence of FMD in women and provide insights into the shared genetic basis between FMD and more common CVDs and traits.

• #35 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #36 Optimal management of renal artery fibromuscular dysplasia | TCRM

  https://www.dovepress.com/optimal-management-of-renal-artery-fibromuscular-dysplasia-peer-reviewed-fulltext-article-TCRM

  Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory angiopathy of unknown cause affecting medium-sized (most commonly renal) arteries and causing renovascular hypertension. […] The etiology is multifactorial, including vessel wall ischemia and smoking, as well as hormonal and genetic factors. […] Vessel wall ischemia seems to be of relevance for the development of FMD. […] The female preponderance of FMD suggests the importance of hormonal factors such as estrogen and progesterone. […] The occurrence of renal FMD in siblings and identical twins suggests autosomal dominant inheritance, with incomplete penetrance and variable clinical symptoms. […] Histologically, the three main types of dysplasia in FMD are classified according to the arterial wall layer mainly affected by collagen deposition, ie, intimal, medial, and adventitial.

• #37 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #38 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #39 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #40 Fibromuscular Dysplasia (FMD) – LA Vascular

  https://lavascular.com/fibromuscular-dysplasia-fmd/

  Pathological changes can be detected in all 3 layers of the arterial wall, according to which there are intimal, medial and adventitial types of FMD. The intimal type occurs in 12% of FMD and is characterized by the accumulation of fibrous tissue in the intima with a moderate number of cells. The internal elastic membrane is preserved, but often split. Medial type FMD is the most common (60-90%) and is represented by areas of degeneration of elastic fibers in the media with their replacement by loose collagen, which alternates with areas of loss of muscle fibers and expansion of the lumen of the artery, in the area of which damage to the internal elastic membrane is noted. […] Recent studies have found increased secretion of transforming growth factor (TGF)-1 and TGF-2 by skin fibroblast cell lines in patients with FMD compared with controls. The potential involvement of TGF- pathways in the pathogenesis of FMD is an area for future research.

• #41 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #42 Fibromuscular dysplasia | MedLink Neurology

  https://www.medlink.com/articles/fibromuscular-dysplasia

  The histologic features of fibromuscular dysplasia are well delineated. A pathologic classification of fibromuscular dysplasia first proposed by McCormack and colleagues was subsequently revised by Stanley and colleagues. The three main types of fibromuscular dysplasia are (1) medial fibromuscular dysplasia, (2) intimal fibroplasia, and (3) periarterial or periadventitial fibroplasia. The most common type is medial fibromuscular dysplasia, seen in over 90% of cases. […] Microscopically, these lesions appear as multifocal thickened fibromuscular ridges alternating with areas of pronounced vascular wall thinning. Radiographically, these lesions appear as the classic „string-of-beads” stenoses that often affect the internal carotid arteries at levels C1 and C2, usually 2 or more centimeters beyond the bifurcation.

• #43 Optimal management of renal artery fibromuscular dysplasia | TCRM

  https://www.dovepress.com/optimal-management-of-renal-artery-fibromuscular-dysplasia-peer-reviewed-fulltext-article-TCRM

  In the multifocal type, multiple septa in the renal arteries may together induce a significant reduction in renal perfusion in patients with FMD, resulting in renovascular hypertension, but the degree of renal artery stenosis is impossible to evaluate from imaging. […] Subsequent reduction of arterial perfusion pressure by the unifocally or multifocally stenosed renal artery leads to activation of the reninangiotensinaldosterone system, with volume expansion and hypertension. […] This triggers mechanisms such as increased production of endothelin-1, local activation of the reninangiotensinaldosterone system, arterial wall remodeling, and oxidative stress, all helping to sustain the hypertension, which now depends not only on the reninangiotensinaldosterone system but also on the local vasoconstrictive and importantly proliferative effects in the arterial/arteriole wall, gradually leading to resistance to therapy. […] Inflammatory mediators are increased in renovascular hypertension, but neopterin and endothelin-1 levels are lower in renovascular hypertension due to FMD than in atherosclerotic renal artery stenosis.

• #44 Pathology Outlines – Fibromuscular dysplasia

  https://www.pathologyoutlines.com/topic/heartfibromusculardysplasia.html

  In 1971, a classification system to describe FMD of renal artery was proposed by Harrison and McCormack based on dominant arterial wall layer involved: Intimal fibroplasia, Medial dysplasia, Adventitial (periarterial) fibroplasias. Intimal fibroplasia: < 10% of all fibrous lesions. Circumferential or eccentric deposition of collagen in intima but no lipid or inflammatory component. Internal elastic lamina is identifiable but may be fragmented or duplicated. This appearance may be mimicked by endarteritis due to inflammation or trauma. Can occur as a generalized disorder involving renal, carotid, upper and lower extremity and mesenteric vasculature simultaneously mimicking a multisystem disease such as necrotizing vasculitis. [...] Medial fibroplasia: A subtype of medial FMD, histologic finding in 75 - 80% of all cases of FMD. Alternating areas of thinned media and thickened fibromuscular ridges containing collagen. Some areas of internal elastic membrane are lost.

• #45 Fibromuscular dysplasia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is an idiopathic, non-inflammatory, non-atherosclerotic, developmental condition that primarily affects small and medium-sized muscular arteries. […] FMD results in ischemia by one or more of the following mechanisms: Stenosis, Formation of saccular aneurysms aneurysmal rupture, Arterial dissection arterial occlusion, Formation of intravascular thrombi embolization. […] Renal artery stenosis renal perfusion compensatory activation of the renin-angiotensin-aldosterone system secondary hypertension.

• #46 Fibromuscular dysplasia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is an idiopathic, non-inflammatory, non-atherosclerotic, developmental condition that primarily affects small and medium-sized muscular arteries. […] FMD results in ischemia by one or more of the following mechanisms: Stenosis, Formation of saccular aneurysms aneurysmal rupture, Arterial dissection arterial occlusion, Formation of intravascular thrombi embolization. […] Renal artery stenosis renal perfusion compensatory activation of the renin-angiotensin-aldosterone system secondary hypertension.

• #47 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. FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] The casual link between FMD and aneurysms is less clear but is possibly related to an underlying connective tissue problem that results in loss of arterial wall strength. This wall weakness may allow for vessel dilation (aneurysm formation and beading in FMD) as well as injury, which then causes compensatory fibroplasia. […] FMD lesions likely predispose the artery to dissection through weakening of the arterial wall.

• #48 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. FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] The casual link between FMD and aneurysms is less clear but is possibly related to an underlying connective tissue problem that results in loss of arterial wall strength. This wall weakness may allow for vessel dilation (aneurysm formation and beading in FMD) as well as injury, which then causes compensatory fibroplasia. […] FMD lesions likely predispose the artery to dissection through weakening of the arterial wall.

• #49 Fibromuscular dysplasia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is an idiopathic, non-inflammatory, non-atherosclerotic, developmental condition that primarily affects small and medium-sized muscular arteries. […] FMD results in ischemia by one or more of the following mechanisms: Stenosis, Formation of saccular aneurysms aneurysmal rupture, Arterial dissection arterial occlusion, Formation of intravascular thrombi embolization. […] Renal artery stenosis renal perfusion compensatory activation of the renin-angiotensin-aldosterone system secondary hypertension.

• #50 Optimal management of renal artery fibromuscular dysplasia | TCRM

  https://www.dovepress.com/optimal-management-of-renal-artery-fibromuscular-dysplasia-peer-reviewed-fulltext-article-TCRM

  In the multifocal type, multiple septa in the renal arteries may together induce a significant reduction in renal perfusion in patients with FMD, resulting in renovascular hypertension, but the degree of renal artery stenosis is impossible to evaluate from imaging. […] Subsequent reduction of arterial perfusion pressure by the unifocally or multifocally stenosed renal artery leads to activation of the reninangiotensinaldosterone system, with volume expansion and hypertension. […] This triggers mechanisms such as increased production of endothelin-1, local activation of the reninangiotensinaldosterone system, arterial wall remodeling, and oxidative stress, all helping to sustain the hypertension, which now depends not only on the reninangiotensinaldosterone system but also on the local vasoconstrictive and importantly proliferative effects in the arterial/arteriole wall, gradually leading to resistance to therapy. […] Inflammatory mediators are increased in renovascular hypertension, but neopterin and endothelin-1 levels are lower in renovascular hypertension due to FMD than in atherosclerotic renal artery stenosis.

• #51 Optimal management of renal artery fibromuscular dysplasia | TCRM

  https://www.dovepress.com/optimal-management-of-renal-artery-fibromuscular-dysplasia-peer-reviewed-fulltext-article-TCRM

  In the multifocal type, multiple septa in the renal arteries may together induce a significant reduction in renal perfusion in patients with FMD, resulting in renovascular hypertension, but the degree of renal artery stenosis is impossible to evaluate from imaging. […] Subsequent reduction of arterial perfusion pressure by the unifocally or multifocally stenosed renal artery leads to activation of the reninangiotensinaldosterone system, with volume expansion and hypertension. […] This triggers mechanisms such as increased production of endothelin-1, local activation of the reninangiotensinaldosterone system, arterial wall remodeling, and oxidative stress, all helping to sustain the hypertension, which now depends not only on the reninangiotensinaldosterone system but also on the local vasoconstrictive and importantly proliferative effects in the arterial/arteriole wall, gradually leading to resistance to therapy. […] Inflammatory mediators are increased in renovascular hypertension, but neopterin and endothelin-1 levels are lower in renovascular hypertension due to FMD than in atherosclerotic renal artery stenosis.

• #52 Optimal management of renal artery fibromuscular dysplasia | TCRM

  https://www.dovepress.com/optimal-management-of-renal-artery-fibromuscular-dysplasia-peer-reviewed-fulltext-article-TCRM

  In the multifocal type, multiple septa in the renal arteries may together induce a significant reduction in renal perfusion in patients with FMD, resulting in renovascular hypertension, but the degree of renal artery stenosis is impossible to evaluate from imaging. […] Subsequent reduction of arterial perfusion pressure by the unifocally or multifocally stenosed renal artery leads to activation of the reninangiotensinaldosterone system, with volume expansion and hypertension. […] This triggers mechanisms such as increased production of endothelin-1, local activation of the reninangiotensinaldosterone system, arterial wall remodeling, and oxidative stress, all helping to sustain the hypertension, which now depends not only on the reninangiotensinaldosterone system but also on the local vasoconstrictive and importantly proliferative effects in the arterial/arteriole wall, gradually leading to resistance to therapy. […] Inflammatory mediators are increased in renovascular hypertension, but neopterin and endothelin-1 levels are lower in renovascular hypertension due to FMD than in atherosclerotic renal artery stenosis.

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

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

  A series of 47 patients with FMD seen at the National Institutes of Health found a high incidence of connective tissue features on physical examination, with 95.7% of patients exhibiting at least four features of connective tissue disease, including marked hypermobility, scoliosis, craniofacial abnormalities, and pes planus (flat foot deformity). […] Additional studies are needed to clarify the potential relationship between the spectrum of connective tissue disorders and FMD.

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

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

  A series of 47 patients with FMD seen at the National Institutes of Health found a high incidence of connective tissue features on physical examination, with 95.7% of patients exhibiting at least four features of connective tissue disease, including marked hypermobility, scoliosis, craniofacial abnormalities, and pes planus (flat foot deformity). […] Additional studies are needed to clarify the potential relationship between the spectrum of connective tissue disorders and FMD.

• #55 Fibromuscular Dysplasia – Heart and Blood Vessel Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/heart-and-blood-vessel-disorders/peripheral-arterial-disease/fibromuscular-dysplasia

  Fibromuscular dysplasia is abnormal thickening of the walls of arteries that is not related to atherosclerosis or inflammation but that causes artery narrowing or blockage. […] The cause is unknown. However, there may be a genetic component, and smoking may be a risk factor. […] Fibromuscular dysplasia is more common among people with certain connective tissue disorders (for example, Ehlers-Danlos syndrome, cystic medial necrosis [a condition in which the walls of the aorta degenerate], hereditary nephritis, or neurofibromatosis). […] Treatment varies by location. It may involve angioplasty, bypass surgery (see figure Bypass Surgery in the Leg), or aneurysm repair. […] Because atherosclerosis also blocks arteries, people with fibromuscular dysplasia and risk factors for atherosclerosis (such as high blood pressure, high levels of cholesterol in the blood, and diabetes) may also need treatment of those disorders.

• #56 Fibromuscular Dysplasia – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/peripheral-arterial-disorders/fibromuscular-dysplasia

  Fibromuscular dysplasia includes a heterogenous group of nonatherosclerotic, noninflammatory arterial changes, causing some degree of vascular stenosis, occlusion, or aneurysm. […] The cause is unknown. However, there may be a genetic component, and smoking may be a risk factor. […] Medial dysplasia, the most common type, is characterized by alternating regions of thick and thin fibromuscular ridges containing collagen along the media. In perimedial dysplasia, extensive collagen deposition occurs in the outer half of the media. […] Ultrasonography may suggest the diagnosis, but definitive diagnosis of fibromuscular dysplasia is made by angiography showing a beaded appearance (in medial or perimedial dysplasia) or a concentric band or long, smooth narrowing (in other forms). […] Control of other risk factors for atherosclerosis (hypertension, dyslipidemia, diabetes) helps prevent accelerated development of flow-limiting arterial stenoses.

• #57 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. FMD occurs in most other medium-to-large arteries as well, including the coronary arteries, the pulmonary arteries, and the aorta. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] The casual link between FMD and aneurysms is less clear but is possibly related to an underlying connective tissue problem that results in loss of arterial wall strength. This wall weakness may allow for vessel dilation (aneurysm formation and beading in FMD) as well as injury, which then causes compensatory fibroplasia. […] FMD lesions likely predispose the artery to dissection through weakening of the arterial wall.

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

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

  Although the multiple manifestations of a structural arteriopathy in FMD hint of a genetic cause, such as collagen or elastin mutation, epidemiologic data suggesting familial transmission are generally weak. […] The increased incidence of FMD in women as compared with men suggests a possible hormonal or genetic influence. […] Many reports exist of familial occurrences of FMD, mostly in siblings. […] In case reports, FMD has been associated with mutations in collagen, with cutis laxa, and with alpha1-antitrypsin deficiency.

• #59 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  The potential involvement of TGF-b pathways in the pathogenesis of FMD is an area for future investigation, especially as this pathway could provide a potential target for disease-modifying medical therapies. […] In some case reports, the association of FMD with neurofibromatosis, Alport syndrome, and pheochromocytoma have been considered; And mutations in collagen, and with alpha1-antitrypsin deficiency have also been suggested.

• #60 Fibromuscular Dysplasia & Vascular Ehlers-Danlos – The VEDS Movement

  https://thevedsmovement.org/2021/03/23/fibromuscular-dysplasia-and-vascular-ehlers-danlos/

  Recently, studies have shown that a high percentage of women who were healthy and who have a sudden tearing of a coronary artery (called Sudden Coronary Artery Dissection or SCAD) probably have undiagnosed FMD. SCAD was previously thought to be a separate condition to FMD, but now we are starting to understand that many people have FMD as the main reason for their coronary tear.

• #61 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. […] Researchers have also begun to explore the pathophysiological mechanisms of FMD, its genetics, and its potential relationship to other connective tissue disorders. […] The genetic mechanism underlying FMD is a focus of ongoing research studies in the U.S. and France. Assessment of plasma levels and dermal fibroblasts from 47 individuals with FMD revealed an association with elevated expression of transcription growth factors TGF-1 and TGF-2. […] Recent findings have reported a correlation between FMD and spontaneous coronary artery dissection. These studies illustrated a high occurrence of spontaneous coronary artery dissection (SCAD) patients with FMD in multiple vascular beds, including the renal, carotid, and iliac arteries. […] The existence of tortuosity and redundancy, with S-curvature, of the internal carotid arteries (ICA) in FMD patients is a more recent discovery. […] Lessons learned from the U.S. registry for FMD and other research studies have informed the clinical care of FMD patients.

• #62 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. FMD is an idiopathic, non-inflammatory, non-atherosclerotic disease commonly involving renal and carotid arteries; however, it can affect any arterial bed. FMD classically presents as renovascular hypertension but can also manifest as stroke in young adults. Early diagnosis and treatment are important for a long-term prognosis. […] The etiology of fibromuscular dysplasia (FMD) is unclear despite extensive research. Environmental and genetic factors have been associated with FMD. […] Despite all the possible explanations, the etiology of FMD remains elusive. […] Fibromuscular dysplasia (FMD) can affect any artery. FMD is a segmental, non-atherosclerotic disease affecting the musculature of the small- and medium-sized arterial walls and causing stenosis, aneurysms or dissections of the vascular territories. […] Hypertension in renal FMD is hypothesized to be from secondary activation of the renin-angiotensin-aldosterone system, though some studies argue against this theory.

• #63 Vascular: Fmd (fibromuscular Dysplasia) Imaging Pearls – Educational Tools | CT Scanning | CT Imaging | CT Scan Protocols – CTisus

  https://www.ctisus.com/learning/pearls/vascular/fmd-%28fibromuscular-dysplasia%29

  FMD is a diffuse arteriopathy that involves medium-sized arteries in multiple vascular territories throughout the body, most commonly the renal and cerebrovascular arteries. A high prevalence of arterial aneurysm and dissection has been previously demonstrated among patients with FMD. […] There are three types of FMD: intimal, medial, and adventitial. The majority of the FMD is the medial form typically described as the classic string of beads sign that has been observed in 65% to 90% of FMD lesions. The string of beads finding is easily detected using CTA. […] Screening chest, abdomen, and pelvis CTA in patients with FMD showed substantial and incremental diagnostic yield. Reformatted images should routinely be included in imaging analysis. Abnormalities in the aorta were not common, so screening of the thoracic aorta may not be indicated.

• #64 Fibromuscular Dysplasia: Causes, Symptoms and Treatment

  https://my.clevelandclinic.org/health/diseases/17001-fibromuscular-dysplasia-fmd

  Fibromuscular dysplasia (FMD) is an uncommon medical condition involving abnormal cell growth in artery walls. […] FMD can make your blood vessels narrow, bulge or develop a beaded appearance. […] Scientists dont know what causes FMD. Some cases have been linked to: Genetics, as some cases are inherited. […] Theres no cure for FMD. Treatment focuses on relieving symptoms and preventing complications. […] Because scientists dont understand the causes of FMD, there are no strategies to prevent it. […] Fibromuscular dysplasia (FMD) is an uncommon medical condition that involves abnormal cell growth in the walls of arteries.

• #65 FIBROMUSCULAR DYSPLASIA AND ITS VASCULAR IMPLICATIONS WITHOUT NEUROLOGICAL FINDINGS: A CASE REPORT | Published in Journal of Contemporary Chiropractic

  https://journal.parker.edu/article/124973-fibromuscular-dysplasia-and-its-vascular-implications-without-neurological-findings-a-case-report

  Fibromuscular dysplasia (FMD) is a rare, idiopathic, non-atherosclerotic, and non-inflammatory vascular disorder characterized by abnormal cell growth within the walls of medium-sized arteries, leading to stenosis, aneurysm formation, tortuosity, or dissection. […] The pathology of FMD involves dysplasia of the arterial wall, leading to alternating areas of stenosis and dilatation, which produce the characteristic string of beads appearance on imaging. This appearance, resembling a string of beads, is due to the alternating narrowing and widening of the artery. […] One of the significant challenges in managing FMD is the risk of complications such as arterial dissection, aneurysm formation, renovascular hypertension, limb ischemia, or peripheral ulcerations. […] FMD management typically involves medical therapy, lifestyle modification, and interventional procedures.

• #66 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

  A variety of classification schemes for FMD have been proposed over the past 50 years, but most recently, the 2011 French and Belgian expert consensus panel suggested movement away from a histology based classification to a simplified, imaging-based categorization of FMD into the subtypes of multifocal, unifocal (<1 cm lesion), and tubular (>1 cm lesion). […] The rationale for this simplified classification system is twofold: to both standardize and simplify the classification of FMD and to try to determine if multifocal and unifocal FMD are the same disease with different manifestations and outcomes or different diseases that are related to each other or just different diseases. […] The top 11 research priorities for FMD as suggested by Olin et al. include determining the following: […] unique biological and genetic factors affecting the vascular distribution of FMD and the development of a stenosis versus an aneurysm versus a dissection;

• #67 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

  role of endogenous and exogenous hormones in the pathogenesis of FMD; […] In many ways, this state of the science manuscript by Olin et al. is a call to arms for clinicians and research scientists to recognize that FMD is a conundrum that likely affects a large population of patients. […] The creation of a more simplified classification of FMD into the two categories of multifocal and unifocal should allow for more consistent data collection in the future.

• #68 Fibromuscular dysplasia pathophysiology – wikidoc

  https://wikidoc.org/index.php/Fibromuscular_dysplasia_pathophysiology

  The potential involvement of TGF-b pathways in the pathogenesis of FMD is an area for future investigation, especially as this pathway could provide a potential target for disease-modifying medical therapies. […] In some case reports, the association of FMD with neurofibromatosis, Alport syndrome, and pheochromocytoma have been considered; And mutations in collagen, and with alpha1-antitrypsin deficiency have also been suggested.

• #69 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

  The relevance of impaired vasodilation and/or enhanced vasoconstriction in FMD pathogenesis is supported by our recent study where we reported an enrichment among FMD patients for rare loss-of-function mutations in the gene encoding the receptor for prostacyclin, a major vasodilator hormone. […] 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. […] Through genetic correlation analyses, we were able to globally position the genetic basis of FMD among the genetics of more commonly studied CVDs and traits. […] The elimination of the presence of atherosclerosis as the cause of stenoses and aneurysms is required for FMD diagnosis, which may have influenced this negative correlation with a disease where atherosclerosis is underrepresented. […] Further investigation of the exact biological effects driven by these genes may shed light on the cause of the higher prevalence of FMD in women and provide insights into the shared genetic basis between FMD and more common CVDs and traits.

• #70 Fibromuscular Dysplasia | Icahn School of Medicine

  https://icahn.mssm.edu/research/cardiovascular/focus/fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory, sometimes fatal vascular disease. […] Working with International collaborators, we have successfully identified several genes involved in both FMD and SCAD. Indeed, the very first of these identified genes, PHACTR1, has been linked to both diseases. […] by better understanding the causes of FMD and SCAD, we hope to one day be able to develop specific therapies for them.

• #71 Fibromuscular Dysplasia (FMD) – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/fibromuscular-dysplasia

  Genetics is thought to be a major factor in determining if you develop Fibromuscular Dysplasia (FMD). Working with teams from around the world, the Institutes Professor Jason Kovacic has identified the five key genes responsible for FMD and one of its major drivers. It is hoped this work will lead to genetic testing and potentially new treatments in the future. […] It is believed that female hormones may also play a role.

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