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 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. In a retrospective analysis of 104 patients with renal FMD, Pannier-Moreau et al. reported an 11% prevalence of familial cases where at least one sibling showed angiographic evidence of renal FMD. Bofinger et al. described an association between the polymorphisms of the renin-angiotensin gene. Plouin et al. described an association between HLA-DRw6 histocompatibility antigen and FMD.

• #2 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. […] 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.

• #3 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. […] Scientists dont know what causes FMD. Some cases have been linked to: […] Genetics, as some cases are inherited. […] Hormones. […] Injury to the artery wall like repeated stretching. […] Some factors, such as smoking, can make FMD worse. […] Because scientists dont understand the causes of FMD, there are no strategies to prevent it.

• #4 Fibromuscular Dysplasia (FMD) and Arterial Dissection Clinic | Cleveland Clinic

  https://my.clevelandclinic.org/departments/heart/depts/fibromuscular-dysplasia-clinic

  Fibromuscular dysplasia (FMD) is an uncommon vascular disease. Patients with FMD have abnormal cellular growth in the walls of their medium and large arteries. This can cause the arteries with the abnormal growth to look beaded. The arteries may also become narrow (stenosis) and in some cases may develop aneurysms (bulging) or dissections (artery tears). […] Despite a great deal of research, it is still not clear what causes FMD. It is very likely that FMD has multiple underlying causes. Some of the factors that may play a role include: […] Hormonal influences: The disease occurs most commonly in women. […] Genetics: About 7-11% of cases are inherited. In addition about a quarter of patients with FMD have had a family member with an aneurysm. […] Internal mechanical stress, including trauma to the artery walls or mechanical forces on the vessel.

• #5 FAQs about Fibromuscular Dysplasia

  https://www.massgeneral.org/vascular-center/treatments-and-services/faq-fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of the bodys arteries. As a result of this growth, areas of the arteries can thicken, narrow and even enlarge, making it difficult for blood to flow through them. […] The cause of FMD is still unknown. However, several factors may play a role in its development. A combination of these factors is likely responsible: […] Research suggests that about 10% of cases appear in families. People who have a family member with FMD may develop the condition in different arteries than their relative, experience a more or less severe version of the disease, or may not develop FMD at all […] FMD is three to four times more common in premenopausal women than in men, suggesting that sex hormones may be involved in its development […] A lack of oxygen to the artery walls may cause them to form abnormally. Arteries may also be located abnormally within the body, predisposing them to FMD.

• #6 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 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. In a retrospective analysis of 104 patients with renal FMD, Pannier-Moreau et al. reported an 11% prevalence of familial cases where at least one sibling showed angiographic evidence of renal FMD. Bofinger et al. described an association between the polymorphisms of the renin-angiotensin gene. Plouin et al. described an association between HLA-DRw6 histocompatibility antigen and 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 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. In a retrospective analysis of 104 patients with renal FMD, Pannier-Moreau et al. reported an 11% prevalence of familial cases where at least one sibling showed angiographic evidence of renal FMD. Bofinger et al. described an association between the polymorphisms of the renin-angiotensin gene. Plouin et al. described an association between HLA-DRw6 histocompatibility antigen and FMD.

• #8 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. […] One study showed that a common variant on chromosome 6 in the phosphatase and actin regulator 1 (PHACTR1) gene increases the risk of FMD by approximately 40%. […] Recently, the COL5A1 pathogenic variant c.1540GA, p.(Gly514Ser) has been identified as the first monogenic factor for multifocal FMD and was found to be associated with vascular manifestations such as arterial aneurysms, dissections, and tortuosity. […] Limited data on further association exist and there is still much to be studied regarding the complex genetic patterns of inheritance of FMD.

• #9 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. […] FMD is an idiopathic, segmental, non-atherosclerotic disease of the arterial walls, leading to stenosis of small and medium-sized arteries, often associated with dissection, aneurysm, and in some cases arterial tortuosity. […] 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 significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.

• #10 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. […] One study showed that a common variant on chromosome 6 in the phosphatase and actin regulator 1 (PHACTR1) gene increases the risk of FMD by approximately 40%. […] Recently, the COL5A1 pathogenic variant c.1540GA, p.(Gly514Ser) has been identified as the first monogenic factor for multifocal FMD and was found to be associated with vascular manifestations such as arterial aneurysms, dissections, and tortuosity. […] Limited data on further association exist and there is still much to be studied regarding the complex genetic patterns of inheritance of FMD.

• #11 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. […] FMD is an idiopathic, segmental, non-atherosclerotic disease of the arterial walls, leading to stenosis of small and medium-sized arteries, often associated with dissection, aneurysm, and in some cases arterial tortuosity. […] 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 significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.

• #12 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 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. In a retrospective analysis of 104 patients with renal FMD, Pannier-Moreau et al. reported an 11% prevalence of familial cases where at least one sibling showed angiographic evidence of renal FMD. Bofinger et al. described an association between the polymorphisms of the renin-angiotensin gene. Plouin et al. described an association between HLA-DRw6 histocompatibility antigen and FMD.

• #13 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).

• #14 Pathology Outlines – Fibromuscular dysplasia

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

  Fibromuscular dysplasia (FMD) is a vascular disease affecting small to medium sized vessels. It is a noninflammatory, nonatherosclerotic condition occurring more frequently in younger individuals and women. […] Rushton et. al. suggested it may be autosomal dominant with variable penetrance (Arch Intern Med 1980;140:233). Associated with hormonal factors, ergotamine preparations, methysergide, rubella syndrome. Also heterozygous alpha-1-antitrypsin deficiency, pheochromocytoma, neurofibromatosis. Ehlers-Danlos syndrome, Alport syndrome Type IV, cystic medial necrosis, coarctation of the aorta.

• #15 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a disease that affects the arteries. Many doctors are not very familiar with it, and there is often a long time between the first symptom or sign and the diagnosis of FMD. […] While many consider FMD a rare disease, there is good scientific evidence that it may affect up to 5 percent of the female population (the vast majority of patients are women). […] Fibromuscular dysplasia is a disease that occurs predominantly in women. According to the United States Registry for FMD, 95 percent of all patients are female. […] In the most common type of FMD, known as multifocal FMD, there are abnormal changes in the walls of the blood vessels, causing the artery to look like a “string of beads,” with areas of narrowing followed by areas of enlargement. […] In a less common type of FMD, focal FMD, there is a single focal area of narrowing in the artery.

• #16 Fibromuscular dysplasia (FMD) » The Texas Heart Institute

  https://www.texasheartmedical.org/our-specialties/fibromuscular-dysplasia-fmd-2/

  Fibromuscular dysplasia (FMD) is impacting women disproportionately – in fact, women represent 90% of FMD cases. […] 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. It is still unclear whether genetics plays a role in the development of FMD. It is now a subject of research investigation at The Texas Heart Institute (THI). […] Some factors like genetic predisposition, hormonal influence, mechanical factors (stretching of smooth muscle cells and trauma to the blood vessel wall), and ischemia of the blood vessel wall could predispose people to the disease.

• #17 Carotid Artery Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538199/

  Fibromuscular dysplasia (FMD) of the carotid artery is a non-atherosclerotic and noninflammatory disease that can lead to stenosis and/or aneurysm of medium-sized arteries. […] The origins of fibromuscular dysplasia are unknown; however, there are several theories of etiology. One theory shows FMD to be an inherited disorder as it appears there is an 11% familial prevalence. Hormonal effects are another possible etiology as the disease shows predominance in women. Hormones have a particular effect on the medial tissue of the arterial wall. Other theories include immunologic injury, abnormal embryologic development, and abnormal distribution of vaso vasorum.

• #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 – StatPearls – NCBI Bookshelf

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

  Environmental influences include smoking, with a retrospective analysis showing more smokers among FMD patients. Mechanical factors like renal mobility have been suggested, given the higher vulnerability of the right kidney over the left. Female predilection raised the role of estrogens as a causative factor; however, the number of pregnancies did not affect the risk for FMD per Sang Et al. Despite all the possible explanations, the etiology of FMD remains elusive.

• #20 Fibromuscular dysplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/fibromuscular-dysplasia/symptoms-causes/syc-20352144

  In fibromuscular dysplasia, the muscle and fiber tissues in the arteries thicken, causing the arteries to narrow. This is called stenosis. Narrowed arteries can reduce blood flow to the organs, causing organ damage. […] The cause of fibromuscular dysplasia is not known. Changes in genes might cause the condition. […] Because the condition is more common in women than men, researchers think female hormones also may play a role. But exactly how is unclear. Fibromuscular dysplasia is not linked to women’s use of birth control pills.

• #21 Fibromuscular dysplasia // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/fibromuscular-dysplasia

  The cause of fibromuscular dysplasia is not known. Changes in genes might cause the condition. […] Because the condition is more common in women than men, researchers think female hormones also may play a role. But exactly how is unclear. Fibromuscular dysplasia is not linked to women’s use of birth control pills.

• #22 UVA Health a Leader in Treating Fibromuscular Dysplasia

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

  Fibromuscular dysplasia (FMD) is a serious condition that is often underdiagnosed and complex in management. […] FMD, which causes arteries to narrow, is unique to younger-to-middle-aged women. […] „Although we know SCAD associated with FMD is more common during pregnancy and menopause, indicating potential hormonal contribution, it can be difficult to predict and treat,” Taylor says.

• #23 Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

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

  Environmental influences include smoking, with a retrospective analysis showing more smokers among FMD patients. Mechanical factors like renal mobility have been suggested, given the higher vulnerability of the right kidney over the left. Female predilection raised the role of estrogens as a causative factor; however, the number of pregnancies did not affect the risk for FMD per Sang Et al. Despite all the possible explanations, the etiology of FMD remains elusive.

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

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

  FMD is a rare disease that affects the arteries. It causes abnormal cell development in the walls of the arteries. […] The exact causes of FMD are unknown. However, there are some common theories as to what causes FMD. […] Around 11% of people with FMD have another family member with the disease. This suggests there may be a genetic link. […] 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.

• #25 Causes of FMD – Fibromuscular Dysplasia

  https://www.fmd-be.be/causes-of-fmd/

  There are likely different factors responsible genetic and environmental- but the causes of FMD are still not clear and are the subject of ongoing intensive research. […] The study of the genetic aspects has important clinical repercussions: […] Smoking has been identified as a potential factor in the development of FMD, among FMD smokers an earlier diagnosis of hypertension and a higher rate of aneurysms was seen. […] The role of female hormones is suggested by the higher number of women diagnosed with FMD. […] Other possible causes may be related to abnormalities in the development of the small vessels that supply the artery walls, repeated stretching of the renal artery or kidney mobility but the implication of these mechanisms has not been confirmed so far.

• #26 Causes – Fibromuscular Dysplasia

  https://www.fmd-eu.com/what-is-fmd/causes/

  There are likely different factors responsible genetic and environmental- but the causes of FMD are still not clear and are the subject of ongoing intensive research. […] The study of genetic aspects is being addressed both by genealogical analysis and basic research. Genealogical analysis is made possible by studying the data collected via the FMD registries (US and European). It shows that only a minority of patients ( 1.9 7.3%) report a family member diagnosed with FMD. Basic research is looking for genes responsible for FMD. To date, no genetic tests specific to FMD have been found. […] Smoking has been identified as a potential factor in the development of FMD, among FMD smokers an earlier diagnosis of hypertension and a higher rate of aneurysms was seen. Stopping smoking is therefore strongly recommended in patients with FMD.

• #27 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. […] Scientists dont know what causes FMD. Some cases have been linked to: […] Genetics, as some cases are inherited. […] Hormones. […] Injury to the artery wall like repeated stretching. […] Some factors, such as smoking, can make FMD worse. […] Because scientists dont understand the causes of FMD, there are no strategies to prevent it.

• #28 Fibromuscular Dysplasia (FMD) and Arterial Dissection Clinic | Cleveland Clinic

  https://my.clevelandclinic.org/departments/heart/depts/fibromuscular-dysplasia-clinic

  Fibromuscular dysplasia (FMD) is an uncommon vascular disease. Patients with FMD have abnormal cellular growth in the walls of their medium and large arteries. This can cause the arteries with the abnormal growth to look beaded. The arteries may also become narrow (stenosis) and in some cases may develop aneurysms (bulging) or dissections (artery tears). […] Despite a great deal of research, it is still not clear what causes FMD. It is very likely that FMD has multiple underlying causes. Some of the factors that may play a role include: […] Hormonal influences: The disease occurs most commonly in women. […] Genetics: About 7-11% of cases are inherited. In addition about a quarter of patients with FMD have had a family member with an aneurysm. […] Internal mechanical stress, including trauma to the artery walls or mechanical forces on the vessel.

• #29 Fibromuscular Dysplasia: Symptoms, Treatment, and Life Expectancy

  https://www.healthline.com/health/fibromuscular-dysplasia

  FMD is a condition that causes extra cells to grow inside the walls of arteries. […] Doctors arent sure what causes FMD. However, researchers have settled on three main theories: […] About 10 percent of FMD cases occur in members of the same family, suggesting genetics may play a role. […] Women are three to four times more likely to get FMD than men are, which suggests that female hormones may be involved. […] A lack of oxygen to the arteries while theyre forming could cause them to develop abnormally, leading to decreased blood flow.

• #30 Fibromuscular Dysplasia (FMD) | The Texas Heart Institute®

  https://www.texasheart.org/heart-health/heart-information-center/topics/fibromuscular-dysplasia-fmd/

  FMD is a non-inflammatory, non-atherosclerotic disorder. Meaning it is not caused by inflammation or plaque buildup. FMD causes narrowing or blockage of specific arteries in your body and also can lead to bulging of an artery caused by weakening of the artery wall (“aneurysm”) or a tear in the artery (“dissection”). […] 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. It is now a subject of research investigation at The Texas Heart Institute (THI). We are beginning to recognize common features like abnormal cell development in the artery wall. And some factors like genetic predisposition, hormonal influence, mechanical factors (stretching of smooth muscle cells and trauma to the blood vessel wall), and ischemia of the blood vessel wall could predispose people to the disease.

• #31 Fibromuscular dysplasia – Humanitas.net

  https://www.humanitas.net/diseases/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is a condition that causes narrowing (stenosis) and enlargement (aneurysm) of the medium-sized arteries in the body. […] The exact cause of fibromuscular dysplasia is unknown; however, the following factors may play a role: […] Genetics: genetics may play a role in the development of fibromuscular dysplasia. However, it is not an inherited disease and one might also develop the condition in a different artery or have a milder or a more severe case of the disorder. […] Hormones: fibromuscular dysplasia is more common in women, therefore it is believed that certain hormones may be associated with the development of fibromuscular dysplasia. […] Abnormally formed arteries: inadequate oxygen to the arteries that supply the blood vessel walls with blood may cause the vessels to form abnormally, which may lead to fibromuscular dysplasia. It can also be caused by an abnormal position of the arteries in the body or medications or tobacco that cause the arteries to develop abnormally. Once the artery develops abnormally, a cluster of cells builds in the artery wall causing a narrowing and reducing blood flow.

• #32 Fibromuscular Dysplasia – StatPearls – NCBI Bookshelf

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

  Environmental influences include smoking, with a retrospective analysis showing more smokers among FMD patients. Mechanical factors like renal mobility have been suggested, given the higher vulnerability of the right kidney over the left. Female predilection raised the role of estrogens as a causative factor; however, the number of pregnancies did not affect the risk for FMD per Sang Et al. Despite all the possible explanations, the etiology of FMD remains elusive.

• #33 Fibromuscular Dysplasia – MD Searchlight

  https://mdsearchlight.com/health/fibromuscular-dysplasia/

  Fibromuscular dysplasia (FMD) is a condition that’s still not well-understood despite a lot of research. It’s thought to be connected to both environmental and genetic factors. For example, identical twins have been known to both have FMD, which suggests that the condition could be inherited. […] Researchers have also noticed a link between certain gene variations in patients and FMD. Smoking has also been considered as a possible cause. The issue appears more frequently in the right kidney than the left, which has led to suggestions that factors related to the kidneys movement and position may play a role. […] The fact that more women get FMD than men might hint at a connection to estrogen, a hormone primarily produced by women. However, one study reported that the number of pregnancies a woman has had doesn’t affect her risk of developing FMD. […] To sum up, while we have gathered some clues, the reason why FMD develops still remains a mystery.

• #34 Fibromuscular Dysplasia (FMD) | The Texas Heart Institute®

  https://www.texasheart.org/heart-health/heart-information-center/topics/fibromuscular-dysplasia-fmd/

  FMD is a non-inflammatory, non-atherosclerotic disorder. Meaning it is not caused by inflammation or plaque buildup. FMD causes narrowing or blockage of specific arteries in your body and also can lead to bulging of an artery caused by weakening of the artery wall (“aneurysm”) or a tear in the artery (“dissection”). […] 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. It is now a subject of research investigation at The Texas Heart Institute (THI). We are beginning to recognize common features like abnormal cell development in the artery wall. And some factors like genetic predisposition, hormonal influence, mechanical factors (stretching of smooth muscle cells and trauma to the blood vessel wall), and ischemia of the blood vessel wall could predispose people to the disease.

• #35 Fibromuscular Dysplasia: A Comprehensive Insight – Longmore Clinic

  https://longmoreclinic.org/fibromuscular-dysplasia-a-comprehensive-insight/

  Fibromuscular Dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease that predominantly affects the medium-sized arteries. It leads to abnormal cell development in the arterial walls, which can cause the vessels to narrow, bulge, or even dissect. […] The exact etiology of FMD remains unclear. However, several hypotheses include: […] Genetic factors: Several gene mutations have been associated with FMD. […] Hormonal factors: The female predominance suggests a possible hormonal role. […] Mechanical factors: External forces acting on arteries. […] Others: Some believe that early exposure to certain medications or trauma might play a role.

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

  https://nebula.org/blog/is-fibromuscular-dysplasia-genetic/?srsltid=AfmBOordACxH55cCYTj9Ho-F_SmCHzeFfIAeO8miBiqBYyBhl1pmwx0Y

  Fibromuscular dysplasia (FMD) is a rare systemic vascular disease affecting the arteries. The exact cause of fibromuscular dysplasia is unknown, but it is believed to be a combination of genetic and environmental factors. […] Several studies suggest a genetic basis for FMD, as it can run in families. Additionally, specific genetic mutations have been associated with the condition. However, the inheritance pattern is unclear, as it can occur sporadically or be inherited in an autosomal dominant or autosomal recessive pattern depending on the underlying genetic mutation. […] The exact cause of fibromuscular dysplasia is poorly understood, but it is believed to be a complex interplay of genetic and environmental factors. Some genetic factors that experts believe may be associated with FMD include mutations in genes that code for proteins involved in the structural integrity of arterial walls.

• #37 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

  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). […] FMD risk genes showed consistent expression in arterial tissue, mostly in VSMCs and fibroblasts. […] Our study identified four loci contributing to FMD genetic risk. Most of these loci were previously shown to be involved in multiple vascular diseases. […] The genetic investigation of FMD has been inconclusive for decades due to the lack of a clear genetic model. […] 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. […] FMD shared genetic bases and potentially biological mechanisms with some but not all cardiovascular and neurovascular diseases.

• #38 FIBROMUSCULAR DYSPLASIA (Chapter 65) – Uncommon Causes of Stroke

  https://www.cambridge.org/core/books/uncommon-causes-of-stroke/fibromuscular-dysplasia/8C4E1F6E383EC9C2DFE2BC3F271E2D77

  Fibromuscular dysplasia (FMD) is a nonatheromatous multifocal condition known to affect almost any systemic or brain-supplying artery, but this condition has special predilection for specific arterial sites. […] It tends to involve medium-sized muscular arteries, especially renal, splanchnic, and cervicocranial arteries. […] FMD can involve any or all of the three layers of the arterial wall, but disease of the arterial media is the most common and important form. […] The most common finding is alternating zones of widening and narrowing of the arterial lumen on angiograms, the so-called string of beads appearance. […] The most neurologically important associated conditions are intracranial aneurysms and arterial dissections. […] Intracerebral hemorrhages can develop because of the severe hypertension that sometimes accompanies renal artery FMD.

• #39 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a disease that affects the arteries. Many doctors are not very familiar with it, and there is often a long time between the first symptom or sign and the diagnosis of FMD. […] While many consider FMD a rare disease, there is good scientific evidence that it may affect up to 5 percent of the female population (the vast majority of patients are women). […] Fibromuscular dysplasia is a disease that occurs predominantly in women. According to the United States Registry for FMD, 95 percent of all patients are female. […] In the most common type of FMD, known as multifocal FMD, there are abnormal changes in the walls of the blood vessels, causing the artery to look like a “string of beads,” with areas of narrowing followed by areas of enlargement. […] In a less common type of FMD, focal FMD, there is a single focal area of narrowing in the artery.

• #40 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a disease that affects the arteries. Many doctors are not very familiar with it, and there is often a long time between the first symptom or sign and the diagnosis of FMD. […] While many consider FMD a rare disease, there is good scientific evidence that it may affect up to 5 percent of the female population (the vast majority of patients are women). […] Fibromuscular dysplasia is a disease that occurs predominantly in women. According to the United States Registry for FMD, 95 percent of all patients are female. […] In the most common type of FMD, known as multifocal FMD, there are abnormal changes in the walls of the blood vessels, causing the artery to look like a “string of beads,” with areas of narrowing followed by areas of enlargement. […] In a less common type of FMD, focal FMD, there is a single focal area of narrowing in the artery.

• #41 Fibromuscular Dysplasia and Stroke

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

  Fibromuscular dysplasia (FMD) is an idiopathic, noninflammatory, nonatherosclerotic vascular disease of small- to medium-sized arteries. […] 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. […] The observed natural history of FMD in asymptomatic incidentally diagnosed cases is relatively benign.

• #42 Clinical manifestations and diagnosis of fibromuscular dysplasia – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-fibromuscular-dysplasia

  Fibromuscular dysplasia (FMD) is a noninflammatory, nonatherosclerotic disorder that leads to arterial stenosis, occlusion, aneurysm, dissection, and arterial tortuosity. […] The most frequently involved arteries are the renal and internal carotid arteries, followed by the vertebral, visceral, and external iliac arteries. […] Disease presentation may vary widely, depending upon the arterial segment involved and the severity of disease.

• #43 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Several findings may occur in patients with FMD: Dissection of a blood vessel. A dissection is a tear and separation of the arterial wall layers or the formation of a collection of blood between the arterial wall layers, leading to severe narrowing of the vessel and blood clot formation. […] A dissection in the neck arteries is called cervical artery dissection (CvAD). When this occurs in the arteries to the heart, it may cause a heart attack or even sudden cardiac death. […] A dissection in the heart arteries is called spontaneous coronary artery dissection (SCAD). Both CvAD and SCAD may be manifestations of FMD. […] Aneurysm of a blood vessel. In an aneurysm, the walls of the artery become weak and balloon out, causing an enlargement of the vessel. […] Approximately 26 percent of patients with FMD have a dissection in at least one location and 22 percent have an aneurysm.

• #44 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Several findings may occur in patients with FMD: Dissection of a blood vessel. A dissection is a tear and separation of the arterial wall layers or the formation of a collection of blood between the arterial wall layers, leading to severe narrowing of the vessel and blood clot formation. […] A dissection in the neck arteries is called cervical artery dissection (CvAD). When this occurs in the arteries to the heart, it may cause a heart attack or even sudden cardiac death. […] A dissection in the heart arteries is called spontaneous coronary artery dissection (SCAD). Both CvAD and SCAD may be manifestations of FMD. […] Aneurysm of a blood vessel. In an aneurysm, the walls of the artery become weak and balloon out, causing an enlargement of the vessel. […] Approximately 26 percent of patients with FMD have a dissection in at least one location and 22 percent have an aneurysm.

• #45 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Arterial tortuosity occurs in about one-third of all patients with FMD. Normal arteries are straight “pipes” of blood flow, but in FMD (and certain other conditions) they become very curvy. […] FMD should be considered in the following circumstances: Any patient with a stroke or heart attack at age less than 60, an aneurysm, dissection, arterial tortuosity, pulsatile tinnitus, or high blood pressure that cannot be adequately controlled. […] Also, patients with cervical (neck) or abdominal bruits (an abnormal whooshing sound detected with a stethoscope, indicating turbulence of blood flow in the arteries) should be further investigated with imaging.

• #46 Fibromuscular Dysplasia Clinical Presentation: History, Physical, Causes

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

  The cause of fibromuscular dysplasia (FMD) is unknown, despite some speculations related to its associations with some rare genetic conditions and predilection for young white females. […] Strokes can be caused by the FMD stenoses themselves, generally by thromboembolic events. […] Even without trauma, FMD lesions predispose the afflicted individual to arterial dissection, which in turn can cause embolic events or, rarely, local thrombosis and massive hemispheric stroke. […] Hypertension due to renovascular FMD may be a risk factor for lacunar and large vessel infarcts and even intracerebral hemorrhage.

• #47 Fibromuscular Dysplasia

  https://vascularinstitute.com/blog/6283/Fibromuscular-Dysplasia

  Fibromuscular dysplasia essentially happens when there is irregular thickening of the blood vessel wall. […] This curious disease has a natural predilection for the blood vessel that supplies the kidney, called the renal artery. […] This is why over 70% of the cases of FMD results in lifestyle-refractory hypertension: reduced blood flow to the kidney causes part of the tissue to die, resulting in the kidney releasing a hormone called renin, which in turn causes a chain of reactions that increases salt and water retention, leading to increased blood pressure. […] FMD itself is a non-progressive disease: once you are diagnosed, you are unlikely to further develop FMD in other arteries. […] However, it could lead to some organ complications. If affecting the renal artery, FMD could eventually cause kidney dysfunction. […] FMD could also cause dissection of the carotid artery.

• #48 Fibromuscular Dysplasia

  https://vascularinstitute.com/blog/6283/Fibromuscular-Dysplasia

  Fibromuscular dysplasia essentially happens when there is irregular thickening of the blood vessel wall. […] This curious disease has a natural predilection for the blood vessel that supplies the kidney, called the renal artery. […] This is why over 70% of the cases of FMD results in lifestyle-refractory hypertension: reduced blood flow to the kidney causes part of the tissue to die, resulting in the kidney releasing a hormone called renin, which in turn causes a chain of reactions that increases salt and water retention, leading to increased blood pressure. […] FMD itself is a non-progressive disease: once you are diagnosed, you are unlikely to further develop FMD in other arteries. […] However, it could lead to some organ complications. If affecting the renal artery, FMD could eventually cause kidney dysfunction. […] FMD could also cause dissection of the carotid artery.

• #49 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

  For a disease that was first described nearly 80 years ago, there is still astonishingly little awareness about fibromuscular dysplasia (FMD) within the medical community. […] While the large majority of patients are women (90%), the etiology and prevalence of FMD remain unknown. […] 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. […] Recent findings have reported a correlation between FMD and spontaneous coronary artery dissection. […] The causal relationship has yet to be identified, but some hypothesize that FMD may be a predisposing condition for SCAD. […] While the prevalence of FMD within the general population remains unknown, research suggests it is commonly underdiagnosed. […] The existence of tortuosity and redundancy, with S-curvature, of the internal carotid arteries (ICA) in FMD patients is a more recent discovery.

• #50 Fibromuscular Dysplasia and Heart Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/heart/services/fibromuscular-dysplasia

  Several findings may occur in patients with FMD: Dissection of a blood vessel. A dissection is a tear and separation of the arterial wall layers or the formation of a collection of blood between the arterial wall layers, leading to severe narrowing of the vessel and blood clot formation. […] A dissection in the neck arteries is called cervical artery dissection (CvAD). When this occurs in the arteries to the heart, it may cause a heart attack or even sudden cardiac death. […] A dissection in the heart arteries is called spontaneous coronary artery dissection (SCAD). Both CvAD and SCAD may be manifestations of FMD. […] Aneurysm of a blood vessel. In an aneurysm, the walls of the artery become weak and balloon out, causing an enlargement of the vessel. […] Approximately 26 percent of patients with FMD have a dissection in at least one location and 22 percent have an aneurysm.

• #51 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. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] Although the etiology of FMD is unknown, several other associated vascular pathologies have been identified. […] 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. […] FMD is a predisposing factor in 15% of spontaneous cervical carotid dissections. […] 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.

• #52 Horizons in the Cerebrovascular Impact of Fibromuscular Dysplasia

  https://eso-stroke.org/horizons-in-the-cerebrovascular-impact-of-fibromuscular-dysplasia-2/

  Fibromuscular dysplasia (FMD) causes non-atherosclerotic, non-inflammatory architectural changes in the musculature of medium or small arteries, resulting primarily in stenosis. […] Although less frequent, men can also develop FMD, and they may experience a more aggressive disease course characterized by a higher incidence of aneurysms and dissections. […] it seems a certain genetic constellation such as the PHACTR1 FMD rs9349379-A risk-allele may be associated with cervical artery dissection in particular; the same allele is a protective factor against atherosclerosis of the coronary arteries. […] Whether FMD increases the risk for aneurysmal rupture remains, however, to be seen. […] On the other hand, according to recent studies, a certain subtype of FMD (carotid web) may increase the risk of RCVS. […] Besides, renal artery stenosis that is associated with FMD could lead to an excessive sympathetic activity, in turn causing RCVS; a synergic effect can be determined if a FMD-associated carotid artery dissection also occurs, with concurrent, unpredictable catecholamine feedback.

• #53 Horizons in the Cerebrovascular Impact of Fibromuscular Dysplasia

  https://eso-stroke.org/horizons-in-the-cerebrovascular-impact-of-fibromuscular-dysplasia-2/

  Fibromuscular dysplasia (FMD) causes non-atherosclerotic, non-inflammatory architectural changes in the musculature of medium or small arteries, resulting primarily in stenosis. […] Although less frequent, men can also develop FMD, and they may experience a more aggressive disease course characterized by a higher incidence of aneurysms and dissections. […] it seems a certain genetic constellation such as the PHACTR1 FMD rs9349379-A risk-allele may be associated with cervical artery dissection in particular; the same allele is a protective factor against atherosclerosis of the coronary arteries. […] Whether FMD increases the risk for aneurysmal rupture remains, however, to be seen. […] On the other hand, according to recent studies, a certain subtype of FMD (carotid web) may increase the risk of RCVS. […] Besides, renal artery stenosis that is associated with FMD could lead to an excessive sympathetic activity, in turn causing RCVS; a synergic effect can be determined if a FMD-associated carotid artery dissection also occurs, with concurrent, unpredictable catecholamine feedback.

• #54 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).

• #55 Fibromuscular Dysplasia Causes & Care – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/fibromuscular-dysplasia-causes-care/

  Underlying connective tissue disorders: There is evidence to suggest an association between fibromuscular dysplasia and certain connective tissue disorders, such as Ehlers-Danlos syndrome and Marfan syndrome. […] Studies suggest that genetics may play a role in the development of fibromuscular dysplasia. Certain genetic variations or mutations may increase the risk of developing this condition. […] Hormones, such as estrogen and progesterone, have been implicated in the development of fibromuscular dysplasia. It is believed that hormonal changes, particularly during puberty and pregnancy, may contribute to the progression of this condition. […] While genetic predisposition and hormonal influences are considered significant factors in the development of FMD, other potential causes are also being investigated. These include abnormal blood flow patterns, inflammation, and disruptions in the normal growth and development of blood vessels. […] It is important to note that fibromuscular dysplasia can occur spontaneously without any identifiable cause. Additionally, the exact interplay between genetic and environmental factors in the development of this condition is still being studied.

• #56 Fibromuscular Dysplasia Causes & Care – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/fibromuscular-dysplasia-causes-care/

  Underlying connective tissue disorders: There is evidence to suggest an association between fibromuscular dysplasia and certain connective tissue disorders, such as Ehlers-Danlos syndrome and Marfan syndrome. […] Studies suggest that genetics may play a role in the development of fibromuscular dysplasia. Certain genetic variations or mutations may increase the risk of developing this condition. […] Hormones, such as estrogen and progesterone, have been implicated in the development of fibromuscular dysplasia. It is believed that hormonal changes, particularly during puberty and pregnancy, may contribute to the progression of this condition. […] While genetic predisposition and hormonal influences are considered significant factors in the development of FMD, other potential causes are also being investigated. These include abnormal blood flow patterns, inflammation, and disruptions in the normal growth and development of blood vessels. […] It is important to note that fibromuscular dysplasia can occur spontaneously without any identifiable cause. Additionally, the exact interplay between genetic and environmental factors in the development of this condition is still being studied.

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

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

  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. […] Associative links to neurofibromatosis, Alport syndrome, and pheochromocytoma have also been suggested.

• #58 Pathology Outlines – Fibromuscular dysplasia

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

  Fibromuscular dysplasia (FMD) is a vascular disease affecting small to medium sized vessels. It is a noninflammatory, nonatherosclerotic condition occurring more frequently in younger individuals and women. […] Rushton et. al. suggested it may be autosomal dominant with variable penetrance (Arch Intern Med 1980;140:233). Associated with hormonal factors, ergotamine preparations, methysergide, rubella syndrome. Also heterozygous alpha-1-antitrypsin deficiency, pheochromocytoma, neurofibromatosis. Ehlers-Danlos syndrome, Alport syndrome Type IV, cystic medial necrosis, coarctation of the aorta.

• #59 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).

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

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

  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. […] Associative links to neurofibromatosis, Alport syndrome, and pheochromocytoma have also been suggested.

• #61 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).

• #62 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. […] The etiology of fibromuscular dysplasia (FMD) is not known, although the histopathologic findings have been described in detail. […] Although the etiology of FMD is unknown, several other associated vascular pathologies have been identified. […] 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. […] FMD is a predisposing factor in 15% of spontaneous cervical carotid dissections. […] 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.

• #63 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.

• #64 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

  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). […] FMD risk genes showed consistent expression in arterial tissue, mostly in VSMCs and fibroblasts. […] Our study identified four loci contributing to FMD genetic risk. Most of these loci were previously shown to be involved in multiple vascular diseases. […] The genetic investigation of FMD has been inconclusive for decades due to the lack of a clear genetic model. […] 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. […] FMD shared genetic bases and potentially biological mechanisms with some but not all cardiovascular and neurovascular diseases.

• #65 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.

• #66 Fibromuscular Dysplasia and Stroke

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

  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). […] The incidence of stroke in FMD is primarily associated with CeAD and can be managed conservatively with antiplatelet therapy and avoidance of high-risk cervical exertion. […] Further research is needed to better understand the genetics, pathophysiology, and optimal treatment for symptomatic patients with FMD and to hopefully avoid preventable cerebrovascular complications.

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

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

  High-resolution echo-tracking methods are promising alternatives to angiography for screening asymptomatic relatives because subclinical alterations of the common carotid artery wall seem common in patients with renal artery, medial FMD. […] Few molecular genetic studies have been conducted, because of the absence of large affected pedigrees and/or the absence of large and well-phenotyped cohorts allowing powerful case-control studies.

• #68 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.

• #69 Fibromuscular Dysplasia (FMD) | The Texas Heart Institute®

  https://www.texasheart.org/heart-health/heart-information-center/topics/fibromuscular-dysplasia-fmd/

  FMD is a non-inflammatory, non-atherosclerotic disorder. Meaning it is not caused by inflammation or plaque buildup. FMD causes narrowing or blockage of specific arteries in your body and also can lead to bulging of an artery caused by weakening of the artery wall (“aneurysm”) or a tear in the artery (“dissection”). […] 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. It is now a subject of research investigation at The Texas Heart Institute (THI). We are beginning to recognize common features like abnormal cell development in the artery wall. And some factors like genetic predisposition, hormonal influence, mechanical factors (stretching of smooth muscle cells and trauma to the blood vessel wall), and ischemia of the blood vessel wall could predispose people to the disease.

• #70

  https://www.fmdsa.org/fmd-info/

  Fibromuscular Dysplasia, commonly called FMD, is a disease that causes one or more arteries in the body to have abnormal cell development in the artery wall. As a result, areas of narrowing (called stenosis), aneurysms, or tears (called dissections) may occur. […] FMD was first diagnosed in 1938 and the cause is not yet known, but several theories have been suggested. A number of case reports in the literature have identified the disease in multiple members of the same family including twins. As a result, it is felt that there may be a genetic cause. […] FMD is far more commonly seen in women than in men, resulting in the theory that hormones may play an important role in disease development. […] Other possible causes of FMD include abnormal development of the arteries that supply the vessel wall with blood, resulting in inadequate oxygen supply; the anatomic position or movement of the artery within the body, certain medications, and tobacco use. It is possible that many factors contribute to the development of FMD. This area requires further research and is under investigation by many researchers around the world.

• #71 Fibromuscular Dysplasia and Stroke

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

  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). […] The incidence of stroke in FMD is primarily associated with CeAD and can be managed conservatively with antiplatelet therapy and avoidance of high-risk cervical exertion. […] Further research is needed to better understand the genetics, pathophysiology, and optimal treatment for symptomatic patients with FMD and to hopefully avoid preventable cerebrovascular complications.

• #72 Fibromuscular Dysplasia (FMD) | UI Health

  https://hospital.uillinois.edu/primary-and-specialty-care/neurology-and-neurosurgery/neurological-conditions-we-treat/fibromuscular-dysplasia

  Fibromuscular Dysplasia (FMD) is a vascular disease that causes one or more arteries in the body to have abnormal cell development in the artery wall. As a result, areas of narrowing of the arteries, called stenosis, may occur, which could lead to a decrease in blood flow through the artery. FMD commonly is found in the arteries that supply blood to the brain and kidney. Individuals with FMD are at risk for artery blockages, hypertension, stroke, and aneurysm. […] The causes of FMD remain unknown and are the focus of considerable research. The disease most likely has multiple underlying causes. Some of the factors that may play a role include: […] Hormonal influences The disease primarily affects women in their 30s and 40s […] Genetics About 10 percent of cases are familial (inherited) […] Trauma or stress to the artery walls […] Loss of oxygen supply to the blood vessel wall.

Zobacz więcej