It is fairly well understood, at least within the inheritable bleeding disorders (IBDs) community, that people who have the potential or ability to menstruate and an IBD will likely experience especially heavy menstrual bleeding (HMB) in their lifetime. HMB, along with other bleeding symptoms, is associated with negative impacts on physical, social, and emotional well-being, particularly in those who have been suffering year-after-year with an undiagnosed disorder. This scenario is not uncommon as there is often a prolonged period between a first reported bleeding event and a confirmed diagnosis in females with bleeding disorders, when compared to their male counterparts.
These glaring diagnostic gaps, which often stretch well beyond a decade, persist despite the best efforts of the American College of Obstetricians and Gynecologists (ACOG), NHF, and other organizations to put forth recommendations, educational initiatives, and public awareness campaigns focused on early screening for adolescents and young women with IBDs.
In short, more needs to be done to ensure early diagnosis and interventions to forestall avoidable impacts on quality of life. A new commentary, “Closing the Diagnostic Gap in Adolescents and Young Adult Women with Bleeding Disorders,” published in the August issue of the journal Obstetrics & Gynecology is a call to maximize the role of gynecologists to achieve early diagnoses in this underserved population.
“This delay from symptom presentation to diagnosis represents the ‘diagnostic gap’. Missing the opportunity for a bleeding disorder diagnosis early in life can have serious consequences—undue medical procedures and complications, excessive bleeding during procedures and at childbirth, not to mention the effect of excessive menstruation on emotional dis-tress and quality of life, as well as adverse social consequences, explain the authors. “Gynecologists have a tremendous opportunity to improve the lives of so many individuals by closing this diagnostic gap and offering screening to those who need it.”
The paper’s two authors, a gynecologists and a hematologist, describe the gaps can be found within several conditions, including hemophilia carriers who will often live with untreated and poorly managed bleeding symptoms.
In many instances, gynecologists, and other healthcare providers, still do not recognize the potential for hemophilia carrier status to confer actual risk, including HMB and other types of bleeding. Further, genetic and coagulation testing to confirm carrier status may not even be offered to individuals with a known family history of hemophilia. “This disparity arises from the longstanding and firmly held belief among many in health care that hemophilia affects only males, and that female hemophilia A and B carriership is not associated with a bleeding phenotype. This historic misconception is at the root of dismissive attitudes by health care professionals and results in inappropriate care, delayed diagnosis, and impaired quality of life in affected women and girls.”
The authors also cite von Willebrand disease (VWD) as a prime example of enduring diagnostic gaps, even as ACOG has for more than 20 years recommended screening for VWD and other bleeding disorders in persons with HMB. The discrepancy between an estimated VWD prevalence of up to 1% of the U.S. population vs. the modest number VWD patients followed at hemophilia treatment centers, potentially reflect this gap. “Indeed, the low estimated prevalence from the hemophilia treatment center population may result primarily from underdiagnosis in the primary care setting and inadequate screening of adolescents.”
Fortunately, there exist effective if underutilized screening tools that could help close this gap. “The well-validated and easy-to-use Menorrhagia Specific Screening Tool based on described menstrual bleeding and family and surgical history, can aid in recognizing and diagnosing bleeding disorders, yet it remains underused in the clinical setting,” explain the authors. “Consistent screening in clinical evaluations can help practitioners identify patients most likely to be affected by a bleeding disorder and who require further testing, and a subsequent diagnosis would greatly inform treatment strategies.”
The third focus area of the commentary is the underdiagnosed connective tissue disorder Ehlers-Danlos syndrome (EDS), which depending on the type, is characterized by joint hypermobility, skin extensibility, and/or tissue fragility, and can impact on a variety organ functions. As hypermobile EDS is more often associated to women with HMB it represents an avenue for gynecologists to help forestall peripartum complications such as uterine rupture, preterm delivery, postpartum hemorrhage, and severe lacerations.
“Because many of these individuals may present with heavy menstrual bleeding, increased screening, and referral for confirmation of a hypermobile spectrum disorder diagnosis can potentially improve outcomes over their lifespans.”
The authors conclude by emphasizing the critical part gynecologists can play in this effort, particularly when equipped with greater knowledge and a willingness to work in concert with their counterparts in hematology.
“Given the prevalence of VWD, EDS, and hemophilia-carrier status, gynecologists should expect to encounter patients affected by these conditions in our practices on a frequent basis. Early recognition can have a significant effect on the diagnostic delays that persist from lack of screening, concluded the authors. “When armed with knowledge and increased awareness of the conditions associated with heavy menstrual bleeding, we as gynecologists have an opportunity to close the diagnostic gap and improve outcomes by taking the initiative to screen. We must be prepared to work collaboratively with hematologists to provide interventions directed toward improving quality of life and decreasing rates of complications due to reproductive tract bleeding.”
Citation
Wright TS, Cygan PH. Closing the Diagnostic Gap in Adolescents and Young Adult Women with Bleeding Disorders: Missed Opportunities. Obstet Gynecol. 2023 Aug 1;142(2):251-256. doi: 10.1097/AOG.0000000000005262. Epub 2023 Jul 5. PMID: 37411028.
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Any questions about the articles featured here should be directed to the publishing journal and/or the study authors. This content is for general information only. NHF does not give medical advice or engage in the practice of medicine. NHF under no circumstances recommends particular treatment for specific individuals and in all cases recommends that you consult your physician or HTC before pursuing any course of treatment.
