Hemophilia A in Females: Considerations for Clinical Management

Abstract

Approximately 50% of female carriers of hemophilia A have factor VIII (FVIII) levels below 0.5 IU/dL and may be categorized as having mild hemophilia. Females with hemophilia may go undiagnosed for years because the most common symptoms – menorrhagia and bleeding after childbirth – also occur in females without hemophilia. Females with hemophilia can exhibit increased bleeding tendencies despite current guidelines of expected, adequate FVIII levels. The cases described illustrate the clinical variability and presentation of hemophilia in females and highlight the importance of a timely diagnosis, effective management, and monitoring. Prophylactic factor replacement therapy is recommended in females with hemophilia, particularly those with joint disease or gynecologic complications. Affected individuals should receive infusion training and education on treatment options, physical activities, the importance of treatment adherence, and recognizing bleeding symptoms warranting treatment. Further study is needed to increase awareness of hemophilia in females and reassess current guidelines for their management and monitoring.

Health issues in women and girls affected by haemophilia with a focus on nomenclature, heavy menstrual bleeding, and musculoskeletal issues

“…21,63,64 Our understanding of type, severity, impact and mechanism (in those with normal factor levels) of bleeding experienced by these women is in evolution, and we will likely play knowledge acquisition catch-up for years to come as many women remain undiagnosed in the absence of a family history in males. [65][66][67][68] It is becoming increasingly clear that severity of haemophilia carrier bleeding poorly correlates with factor activity levels. 16,[69][70][71] A study conducted by Plug et al, reported that carriers with clotting levels between .05 and .60 IU had prolonged bleeding from minor wounds, and after tooth extraction, tonsillectomy, and surgery.…”

“…In fact, musculoskeletal bleeding is increasingly described amongst WGH 21,63,64 . Our understanding of type, severity, impact and mechanism (in those with normal factor levels) of bleeding experienced by these women is in evolution, and we will likely play knowledge acquisition catch‐up for years to come as many women remain undiagnosed in the absence of a family history in males 65–68 …”

The Vascular Endothelium and Coagulation: Homeostasis, Disease, and Treatment, with a Focus on the Von Willebrand Factor and Factors VIII and V

“…For mild bleeding episodes, or in patients bearing the disease, systemic antifibrinolytics, such as tranexamic acid or β-aminocaproic acid, and fibrin- or collagen-based local hemostatic agents have demonstrated significant effectiveness. Moreover, systemic and local hormone therapy and the use of desmopressin have become the treatments of choice in cases of heavy menstrual bleeding [ 295 , 303 , 304 ].…”

Clotting Factor Deficiencies as an Underlying Cause of Abnormal Uterine Bleeding in Women of Reproductive Age: A Literature Review

“…Out of those six (43%) reported sufficient control of the bleeding, while eight (57%) reported that the measures were insufficient [ 55 ]. Finally, in a case series by Paulette Bryant et al that included three hemophilia carriers of the same family with HMB as one of their main symptoms, adequate management of their symptoms required the combined use of recombinant factor VIII (Kovaltry) as well as tranexamic acid during their menses [ 56 ].…”