Prevalence and outcomes of select rare vascular conditions in women

In the United States, rare diseases are defined by the Federal Drug Administration as those diseases or conditions which affect fewer than 200,000 patients in the country1. Due to the rarity of these conditions, patients often struggle to obtain a diagnosis and, once diagnosed, infrequently have access to well-tested therapies. Within the realm of vascular disease, several conditions fall under this umbrella; including many vascular compression syndromes (median arcuate ligament syndrome, nutcracker syndrome, superior mesenteric artery syndrome), vasculidities and related angiopathies (Takayasu's, fibromuscular dysplasia), and connective tissue disorders (Marfan, Loeys-Dietz, vascular Ehlers-Danlos).

Several of these conditions are known to either uniquely affect female populations, including median arcuate ligament syndrome (MALS), vascular Ehlers-Danlos (vEDS) and fibromuscular dysplasia (FMD). Two of these conditions are known epidemiologically to affect majority female patients (MALS, FMD), while vEDS has several risks that are unique to female patients. Despite the relevance of these diseases to a female population there is a paucity of research describing outcomes of these three diseases specifically in women due to the uncommon nature of these conditions as a whole. Given relatively small, heterogenous populations reported in the literature, we utilized descriptive literature review techniques to gather a elicit information on the prevalence and outcomes of these three uncommon conditions specifically in women.

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