Background
Fibromuscular Dysplasia (FMD) is an non-atherosclerotic disease associated with hypertension, headache, dissection, stroke, and aneurysm. The etiology is unknown but hypothesized to involve genetic and environmental components. Previous studies suggest a possible overlap of FMD with other connective tissue diseases that present with dissections and aneurysms. The aim of this study was to investigate the prevalence of connective tissue physical features in FMD.
Methods and Results
142 FMD patients were consecutively enrolled at a single referral center (97.9% female, 92.3% had multifocal FMD). Data are reported for 139 female patients. Moderately severe myopia (29.1%), high palate (33.1%), dental crowding (29.7%), and early onset arthritis (15.6%) were prevalent features. Classic connective features such as hypertelorism, cleft palate, and hypermobility were uncommon. Frequency of systemic connective tissue features was compared between FMD patients with a high vascular risk profile (having had ≥1 dissection and/or ≥2 aneurysms) and those with a standard vascular risk profile. History of spontaneous pneumothorax (5.9% high risk vs. 0% standard risk) and atrophic scarring (17.3% high risk vs. 6.8% standard risk) were significantly more prevalent in the high risk group, p<0.05. High palate was observed in 43.1% of the high risk group vs. 27.3% in the standard risk group, p=0.055.
Conclusions
In a cohort of women with FMD, there was a prevalence of moderately severe myopia, high palate, dental crowding, and early onset osteoarthritis. However, a characteristic phenotype was not discovered. Several connective tissue features such as high palate and pneumothorax were more prominent among FMD patients with a high vascular risk profile.
This review summarizes the most recent literature regarding FMD, including epidemiology, clinical manifestations, imaging practices, and treatment. Special attention will be paid to the association of headaches and FMD. Correct diagnosis, optimal medical management, and appropriate referral for vascular intervention are vital elements of the treatment of patients with FMD. There is a great need for more clinical research regarding the epidemiology, pathophysiology, and optimal treatment of headache in the FMD patient population.
Fibromuscular dysplasia (FMD), a disease well described in the renal and cerebrovascular circulations, also manifests in the lower extremity (LE) arteries. This study reports on the clinical presentation, imaging findings, and treatment of patients with LE FMD seen at a single center. Over a 7-year span, 100 of 449 patients with FMD had imaging of the LE arteries, of which 62 were found to have LE FMD (13.8% of the entire FMD cohort including patients with and without LE imaging). The majority of patients were women (96.8%), with an average age of 52 ± 11.3 years at the time of diagnosis. All patients had FMD present in another vascular bed, most commonly in the renal (80.6%) and extracranial carotid arteries (79.0%). Most patients had multifocal FMD (95.2%) and bilateral LE disease (69.4%), with the external (87.1%), common (19.4%), and internal (11.3%) iliac arteries most commonly affected. Presenting symptoms of LE involvement included claudication (22.6%), atypical leg symptoms (14.5%), and dissection (6.5%), but most patients were asymptomatic (71.0%). Nearly all patients were managed conservatively (98.4%) and only 1 patient required intervention.
The incidence of gestational diabetes mellitus in our cases appears to be very much higher than the average population. Larger studies are needed to determine if gestational diabetes mellitus is a risk factor for perinatal arterial ischemic stroke.
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