Closing the Diagnostic Gap in Adolescents and Young Adult Women With Bleeding Disorders: Missed Opportunities

Approximately 2% of the general population have an underlying inherited bleeding disorder, which, for adolescents and young adult women, has both physical risks and adverse psychosocial effects. Heavy menstrual bleeding can be the first sign of an underlying bleeding disorder such as von Willebrand disease and the X-linked bleeding disorders hemophilia A and B. Connective tissue disorders such as Ehlers-Danlos syndrome, in particular the hypermobile subtype, are relatively frequent in the general population and can also cause bleeding symptoms from impaired hemostasis due to defective collagen. For more than 20 years, the American College of Obstetricians and Gynecologists (ACOG) has recommended screening adolescents and young adult women for bleeding disorders when they present with heavy menstrual bleeding. Despite this directive, there is a significant gap from symptom onset to time of diagnosis in this patient population. We must work to effectively close this diagnostic gap by consistently obtaining thorough bleeding histories, performing the appropriate laboratory evaluations, working collaboratively with hematologists, and using tools and materials promoted by ACOG. Improved screening and earlier diagnosis of these individuals can have far-reaching effects that are not limited to heavy menstrual bleeding management and extend to peripartum considerations and prenatal counseling.