Prevalence and outcomes of select rare vascular conditions in females: A descriptive review

In the United States, the US Food and Drug Administration defined rare diseases as those diseases or conditions that affect fewer than 200,000 patients in the country [1]. Due to the rarity of these conditions, patients often struggle to receive a diagnosis and, once diagnosed, they infrequently have access to well-tested therapies. Within the realm of vascular disease, several conditions fall under this umbrella, including many vascular compression syndromes (eg, median arcuate ligament syndrome [MALS], nutcracker syndrome, and superior mesenteric artery syndrome), vasculidities and related angiopathies (Takayasu's arteritis and fibromuscular dysplasia [FMD]), and connective tissue disorders (Marfan, Loeys-Dietz, and vascular Ehlers-Danlos syndrome [vEDS]).

Several of these conditions, including MALS, vEDS, and FMD, are known to affect females populations uniquely. Two of these conditions are known epidemiologically to affect females patients mostly (ie, MALS and FMD), although vEDS has several risks that are unique to females patients. Despite the relevance of these diseases to a females population, there is a paucity of research describing outcomes of these three diseases specifically in females due to the uncommon nature of these conditions as a whole. Given the relatively small, heterogenous populations reported in the literature, we used descriptive literature review techniques to gather information on the prevalence and outcomes of these three uncommon conditions in females specifically.

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