Other Rare Diseases to be included

VASCern aims to include all Rare Multisystemic Vascular Diseases within its scope of expertise. 

Potential sub-thematic group of diseases should be included in the future in order for the network to take care of all Rare Multisystemic Vascular diseases.

Centers and/or sub specific networks have already been  identified, and are in relationship with VASCern HCPs.

Fibromuscular Dysplasia (FMD)

FMD belongs to the scope of Medium Sized Arteries Working Group (MSA-WG), and Prof. Xavier Jeunemaître, MSA-WG co-chair is also taking care of FMD.

Prof. Alexandre Persu, Cliniques universitaires St Luc (Brussels) is cooperating with VASCern on FMD.

Fibromuscular Dysplasia (FMD) is an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries.

Three angiographic types of renal artery FMD have been described: multifocal (“string-of-beads” appearance), unifocal (solitary stenosis less than 1 cm in length), and tubular (stenosis at least 1 cm in length). As the two last categories only differ by the length of the diseased segment, it was proposed to group them under the general term “unifocal”. While the string-of-beads aspect is almost pathognomonic of multifocal FMD, the diagnosis of unifocal FMD can be established in young patients in the absence of atherosclerotic plaque, multiple vascular risk factors, inflammatory syndrome or vascular thickening, and familial or syndromic disease.

FMD typically occurs in young or middle-aged females. However, FMD may occur both in males and females, at all ages of life.

FMD frequently involves multiple vascular beds. Renal FMD may lead to renovascular hypertension, less frequently renal artery dissection, renal infarction and aneurism rupture. Cervico-cephalic FMD can result in ischemic or haemorrhagic stroke, cervical artery dissection, and may be also associated with intracerebral aneurysms and risk of subarachnoid haemorrhage. Though less frequently, FMD may also affect digestive and limb arteries.  Finally, FMD lesions of extra-coronary vessels were recently found in a substantial proportion of patients with Spontaneous Coronary Artery Dissection (SCAD).

In some patients, the diagnosis of FMD can lead to invasive procedures such as percutaneous angioplasty, reconstructive surgery, or intracranial aneurysm clipping. Thus, both the disease and its treatment can lead to significant morbidity and mortality.

Besides female gender, recent works suggest a contribution of smoking in the pathophysiology of the disease, as well as a genetic susceptibility.

Along with similar initiatives in the US, the European FMD initiative aims at unraveling the etiology, pathogenesis and natural history of the disease, as well as identifying biomarkers and predictors of progression.

Call for recruitment for the European Fibromuscular dysplasia (FMD) initiative here

Event: Second National Meeting on Fibromuscular Dysplasia, December 10th

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BELGIUM

Pr Alexandre PERSU
Head of the Hypertension Clinic, Cardiology Department
Coordinator Multidisciplinary Fibromuscular Dysplasia Consultation, Rare Diseases Institute
Cliniques universitaires Saint-Luc
Université catholique de Louvain
Brussels, Belgium

Alexandre Persu is in charge of the Hypertension Clinic at the Université catholique de Louvain (Cardiology Department, Cliniques Universitaires Saint-Luc, Brussels). He is currently secretary of the Belgian Hypertension Committee and chairman of the working group “Hypertension and the Kidney” of the European Society of Hypertension. He has shown a long lasting interest for drug-resistant, secondary and genetic forms of Hypertension.  He coordinates the Belgian multicentric cohort of patients with Fibromuscular Dysplasia and – in tight collaboration with Pr. Pierre-François Plouin, Xavier Jeunemaitre and Michel Azizi (HEGP, Paris) – the European Fibromuscular Dysplasia initiative and registry.

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Persu A, Giavarini A, Touzé E, Januszewicz A, Sapoval M, Azizi M, Barral X, Jeunemaitre X, Morganti A, Plouin PF, de Leeuw P; ESH Working Group Hypertension and the Kidney. European consensus on the diagnosis and management of fibromuscular dysplasia. J Hypertens. 2014 ;32:1367-78.

Read the recent review paper on Fibromuscular Dysplasia and the European FMD initiative: Revisiting Fibromuscular Dysplasia Rationale of the European Fibromuscular Dysplasia Initiative

Alexandre Persu, Patricia Van der Niepen, Emmanuel Touzé, Sofie Gevaert, Elena Berra,
Pamela Mace, Pierre-François Plouin, Xavier Jeunemaitre, on behalf of the Working
Group “Hypertension and the Kidney” of the European Society of Hyper-tension and the
European Fibromuscular Dysplasia Initiative

Other milestones:

Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D’Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. PLoS Genet. 2016; 12: e1006367.