Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia

Abstract

Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that may involve medium-sized muscular arteries throughout the body. The majority of FMD patients are women. Although a variety of genetic, mechanical, and hormonal factors play a role in the pathogenesis of FMD, overall, its cause remains poorly understood. It is probable that the pathogenesis of FMD is linked to a combination of genetic and environmental factors. Extensive studies have correlated the arterial lesions of FMD to histopathological findings of arterial fibrosis, cellular hyperplasia, and distortion of the abnormal architecture of the arterial wall. More recently, the vascular phenotype of lesions associated with FMD has been expanded to include arterial aneurysms, dissections, and tortuosity. However, in the absence of a string of beads or focal stenosis, these lesions do not suffice to establish the diagnosis. While FMD most commonly involves renal and cerebrovascular arteries, involvement of most arteries throughout the body has been reported. Increasing evidence highlights that FMD is a systemic arterial disease and that subclinical alterations can be found in non-affected arterial segments. Recent significant progress in FMD-related research which has led to improved understandings of the disease’s clinical manifestations, natural history, epidemiology, and genetics. Ongoing work continues to focus on FMD genetics and proteomics, physiological effects of FMD on cardiovascular structure and function, and novel imaging modalities and blood-based biomarkers that can be used to identify subclinical FMD. It is also hoped that the next decade will bring the development of multi-centred and potentially international clinical trials to provide comparative effectiveness data to inform the optimal management of patients with FMD.

Fibromuscular dysplasia in a middle-aged transgender man: The role of hormones in disease pathogenesis

“…This has been identified as an area in need of further research by a group of international experts. 7 This case also demonstrates important considerations in the management of renovascular hypertension presenting with hypertensive urgency in a previously asymptomatic patient. Randomized controlled trials of renal revascularization have not been performed in patients with FMD.…”

Fibromuscular dysplasia: its various phenotypes in everyday practice in 2021

“…Common genetic variants associated with SCAD are also associated with SCAD risk among patients with FMD [86]. Overall, these data may suggest that SCAD and FMD are not a single disease but rather overlapping disorders [19]. Further research is in progress [97].…”

“…Recent prospective registries and ongoing research have substantially improved our knowledge and understanding of the disease's clinical manifestations, epidemiology, natural history and genetics [9][10][11][12]19]. FMD is no longer considered a rare cause of renovascular hypertension in young women, but rather appears as a systemic arterial disease, which may occur in both sexes at any age and with a wide range of manifestations.…”

Baseline Brain-to-Pelvis Imaging Predicts Subsequent Arterial Complications in Patients With Renal Artery Dissection

“…It would involve at least screening for a wide array of inherited arteriopathies (targeted next-generation sequencing) or even better whole exome sequencing, combined with evaluation by emerging imaging and proteogenomic biomarkers of FMD and assessment of the TGF-β pathway. 13 In the meantime, both clinicians and researchers are encouraged to consider using the classification proposed by Faucon et al 3 and collect similar information (Figure ), also in patients with dissection of other arterial beds. Such a careful clinical characterization will likely lead to a thorough reappraisal not only of renal artery dissection but also of unexplained arterial dissections as a whole.…”

“…It would involve at least screening for a wide array of inherited arteriopathies (targeted next-generation sequencing) or even better whole exome sequencing, combined with evaluation by emerging imaging and proteogenomic biomarkers of FMD and assessment of the TGF-β pathway. 13…”