Symptoms, Diagnosis, and Treatment for Women and Girls With Hemophilia: A Narrative Review

INTRODUCTION: Hemophilia is an X-linked bleeding disorder previously thought to present only in men. This sentiment is rapidly changing as the information around women and girls' experiences of bleeding symptoms has evolved, sparking intense discussion among researchers, clinicians, patients, and patient advocates regarding appropriate nomenclature. AIM: The primary objective of this narrative review is to build a comprehensive understanding of how women with hemophilia experience symptoms, how those symptoms are managed, navigate barriers to care, as well as discuss what can be done to alleviate barriers amongst this population. METHODS: This is a qualitative narrative review which incorporates literature search strategies alongside testimonial from patient advocates to inform study priorities. RESULTS: This review identified multiple barriers to care for women and girls with hemophilia, including recognizing symptoms of abnormal bleeding, feeling comfortable asking for help, dealing with stigma from clinicians, getting an appropriate referral, accessing screening, facing challenges along the diagnostic pathway, and receiving treatment for symptoms. Another challenge is the wide variety of places a woman or girl may go to seek care for her bleeding symptoms, including primary care providers, gynecologists, hematologists, emergency medicine physicians, and rheumatologists. CONCLUSION: We conclude that while important strides have been made in this area in research and understanding, gaps remain. The research gaps in the differential symptom presentation when compared to men, potential efficacy and effectiveness of treatments in women as well as gender based behavioral difference are crucial to improving care and mitigating barriers for this cohort. KEY POINTS: This literature review combines information on symptoms, blood and genetic screening, diagnosis, treatment, current barriers to care, and next steps into a comprehensive perspective of the current available research. Evidence indicates that women with hemophilia are more likely than men to experience concerns related to family planning. In addition, women, in general, are more likely to engage in presenteeism rather than absenteeism when managing menstrual symptoms, attending work or school while unwell, which can result in reduced productivity. While screening techniques exist, novel rapid assays are being developed that could be more effective for screening women, particularly those who require multiple screenings before a diagnosis can be established. This can be combined with increased screening protocols to systematically identify carriers within families affected by hemophilia to ensure diagnosis. However, current efforts tend to focus on women of childbearing age, although premenarchal girls also experience hemophilia-related symptoms. The modalities of care for women and girls with hemophilia are numerous including pharmaceuticals such as factor replacement therapy, desmopressin, antifibrinolytic drugs, nonfactor therapy, and hormonal therapy. Additionally, assistance from physiotherapists, rheumatologists, and orthopedic surgeons can help manage joint related complications. Even with many care options, significant barriers to care persist, including the minimization of symptoms, avoidance of medical care, normalization of symptoms due to family history, and difficulties accessing care because of caregiving responsibilities. Existing care structures should be leveraged to provide better support for women and girls with hemophilia and symptomatic carriers. These could include more information provided within caregiving support groups, changes in guidelines, and wider understanding from the medical community as women and girls with hemophilia may seek assistance for their symptoms at a wide variety of clinical locations.