The European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI)—clinical phenotypes and their predictors based on a cohort of 1000 patients

Abstract

Aims Since December 2015, the European/International Fibromuscular Dysplasia (FMD) Registry enrolled 1022 patients from 22 countries. We present their characteristics according to disease subtype, age and gender, as well as predictors of widespread disease, aneurysms and dissections. Methods and results All patients diagnosed with FMD (string-of-beads or focal stenosis in at least one vascular bed) based on computed tomography angiography, magnetic resonance angiography, and/or catheter-based angiography were eligible. Patients were predominantly women (82%) and Caucasians (88%). Age at diagnosis was 46 ± 16 years (12% ≥65 years old), 86% were hypertensive, 72% had multifocal, and 57% multivessel FMD. Compared to patients with multifocal FMD, patients with focal FMD were younger, more often men, had less often multivessel FMD but more revascularizations. Compared to women with FMD, men were younger, had more often focal FMD and arterial dissections. Compared to younger patients with FMD, patients ≥65 years old had more often multifocal FMD, lower estimated glomerular filtration rate and more atherosclerotic lesions. Independent predictors of multivessel FMD were age at FMD diagnosis, stroke, multifocal subtype, presence of aneurysm or dissection, and family history of FMD. Predictors of aneurysms were multivessel and multifocal FMD. Predictors of dissections were age at FMD diagnosis, male gender, stroke, and multivessel FMD. Conclusions The European/International FMD Registry allowed large-scale characterization of distinct profiles of patients with FMD and, more importantly, identification of a unique set of independent predictors of widespread disease, aneurysms and dissections, paving the way for targeted screening, management, and follow-up of FMD.

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

“…The meta-analysis included participants of European ancestry from six studies: ARCADIA 8 /3C 47 GWAS, Mayo Vascular Disease Biorepository 48 , DEFINE-FMD study 42 , ARCADIA-POL 49 /WOBASZII 50 study, University of Michigan/Cleveland Clinic (UM) study 26,51 and FEIRI 7 /ASKLEPIOS 52 study. FMD patients presented similar clinical characteristics ( Supplementary Table S1 ) and homogeneous diagnosis, exclusion and inclusion criteria.…”

“…We identified four genes, all on chromosome 12 from two different loci to be associated with FMD in at least one of the tested conditions (all FMD cases, multifocal FMD, women only, Bonferroni corrected P<0.05, Figure 1b, Table 2). These included three genes at the LIMA1 locus (LIMA1, P Women =3.0×10 - 7 , ATF1, P Multifocal =7.3×10 -7 and GPD1, P Multifocal =7.3×10 -7 ) and STAT6, located near LRP1 (P Multifocal =2.4×10 -6 ).…”

“…FMD occurs predominantly in early middle-aged women (mean age at diagnosis 46-53 years) 4 , thus representing a subset of the population where cardiovascular and neurovascular disease present differently depending on sex 5,6 . FMD is an idiopathic, segmental, non-atherosclerotic disease of the arterial walls, leading to stenosis of small and medium-sized arteries, often associated to dissection, aneurysm, and in some cases arterial tortuosity 4,7-9 . The prevalence of FMD is hard to estimate due to the need of comprehensive vascular imaging to make a definitive diagnosis while concurrently excluding the presence of atherosclerotic plaques.…”

Beyond Atherosclerosis and Fibromuscular Dysplasia: Rare Causes of Renovascular Hypertension

“…Isolated renal artery disease has been treated with medical therapy, percutaneous transluminal angioplasty (PTA) with or without stenting, open bypass surgery, ex vivo surgical repair with renal autotransplantation, or even nephrectomy. 4,13,16 Despite pharmacological treatment not being satisfactory in many cases, medical treatment is often advised as the initial approach to control hypertension to allow maximal body growth in children before any intervention. 9,22 Endovascular treatment is generally accepted as a first-line invasive therapy for RAS due to NF1, because of the absence of major complications and no adverse effect on subsequent vascular reconstruction.…”

Hipertensión renovascular: actualización

“…El registro franco-belga (ARCADIA) comunicó un total de 469 pacientes incluidos, una edad media al diagnóstico de 53 años, 84% de mujeres, 88% de raza blanca y 91% con DFM de tipo multifocal 29 . Por último, el registro europeo-internacional (FEIRI), con más de 1,000 pacientes, que incluye los registros francés (NOMADE) y polaco (ARCADIA-POL), confirma un predominio de mujeres (82%) y caucásicos (88%) 30 . La edad promedio al diagnóstico fue de 46 años.…”