Fibromuscular dysplasia and aortic involvement: a systematic review for a potential association

Fibromuscular dysplasia (FMD) has been defined as a nonatherosclerotic and non-inflammatory arterial disease characterized by multifocal or focal stenosis, and often associated with aneurysms, dissections and marked arterial tortuosity. The disease typically affects medium-size arteries including renal, cerebrovascular, visceral and limb arterial beds. By contrast, the prevalence, clinical presentation and, for long, the very existence of aortic FMD have been questioned, and evidence remains scarce and scattered in case reports and small series. This systematic review aims to elucidate the relationship between FMD and aortic involvement, particularly focusing on the incidence, characteristics, and clinical outcomes of aortic disorders in patients with FMD. The literature search identified 24 studies, reporting a total of 34 patients (age range: 19-77 years, 74% women) with documented aortic disorders. Histological confirmation was available in 27 of them (74%). The majority of patients presented with FMD-related symptoms, predominantly hypertension, and a significant portion exhibited multivessel involvement, particularly affecting renal arteries. The findings revealed a predominance of focal aortic stenosis, with some patients exhibiting complications such as aneurysms and dissections. This review emphasizes the necessity for comprehensive screening in patients with FMD to detect concomitant aortic involvement, which could have significant clinical implications. Furthermore, it underscores the need to establish diagnostic criteria for aortic FMD, given the rarity of this condition and the specificities of its clinical presentation. Further research is warranted to explore the genetic underpinnings of aortic FMD and to develop standardized diagnostic approaches for managing patients with aortic involvement in FMD.