Women and girls with haemophilia and bleeding tendencies: Outcomes related to menstruation, pregnancy, surgery and other bleeding episodes from a retrospective chart review

Abstract

Introduction Women or girls with haemophilia (WGH) represent a group of female symptomatic carriers who experience bleeding events more frequently than non‐carriers. Bleeding events include spontaneous/traumatic bleeds and prolonged bleeding related to surgery, menstruation and pregnancy. Challenges for the treatment of WGH include lack of screening, diagnosis and treatment guidelines. Aim Evaluate clinical characteristics, haemostasis management and clinical outcomes regarding menstruation, childbirth, dental procedures, surgeries and other bleeding events in WGH. Methods A retrospective, non‐interventional review of medical records from WGH among three haemophilia treatment centres (HTCs) was conducted in the United States (2012–2018). Patients with ≥2 visits to the HTC and who had undergone intervention for haemostasis management with the outcome documented were included. Descriptive statistics were used. Results Of 47 women and girls included in the chart review (37 with factor VIII deficiency, 10 with factor IX deficiency), median age at diagnosis was 22.6 years. Approximately 79% (n = 37) were diagnosed with mild haemophilia. Events of interest were primarily managed by factor concentrates or antifibrinolytics. Most treatment approaches were successful across clinical scenarios, except for heavy menstrual bleeding being insufficiently controlled in 8 (57%) of the 14 patients who experienced it. Conclusions Bleeding events in WGH, such as excessive and prolonged bleeding during menstruation, demonstrate a unique burden and require specific medical intervention. These results highlight the importance of assessing the need for haemostasis management in WGH and may contribute to future prospective study designs.

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

“…A retrospective study by Chaudhury et al found that antifibrinolytics were the most utilized treatment (used in 50%) for HMB in WGH, followed by desmopressin and factor concentrates (used in 29% and 14%, respectively). 54 Non-steroidal anti-inflammatory drugs (NSAIDs) are used for HMB in the general population but are not recommended in patients with IBD given their antiplatelet effects. Desmopressin can be used in patients with VWD or Haemophilia A who have been shown to be responsive.…”

“…Tranexamic acid is particularly helpful in those wishing to conceive and those with heavy bleeding with normal duration. A retrospective study by Chaudhury et al found that antifibrinolytics were the most utilized treatment (used in 50%) for HMB in WGH, followed by desmopressin and factor concentrates (used in 29% and 14%, respectively) 54 . Non‐steroidal anti‐inflammatory drugs (NSAIDs) are used for HMB in the general population but are not recommended in patients with IBD given their antiplatelet effects.…”

“…Similar guidelines for management of HMB in WGH do not currently exist. Factor replacement can also be used for the management of HMB and has been shown to be effective in patients with a range of factor deficiencies 54,57–61 …”

Integrated Hemophilia Patient Care via a National Network of Care Centers in the United States: A Model for Rare Coagulation Disorders

“… 7 , 38 Across the lifespan, women with bleeding disorders require specialized care that includes attention to heavy menstrual bleeding pre-menopause, 39 as well as pre- and post-surgery planning to control for heavy blood loss associated with surgery, pregnancy, and postpartum and during times of spontaneous and traumatic joint bleeding. 40–42 …”

The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

“… 12 Menorrhagia is often present but is not invariable. 40 , 41 On a standardized bleeding assessment tool, the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool, women heterozygous for HA or HB scored higher than controls in the categories of cutaneous, minor wound, oral cavity, menorrhagia, hemarthrosis, post dental, postsurgical, and postpartum bleeding, and there was a significant inverse correlation between factor level and bleeding score. 42

Figure 2 Distributions of factor IX activity in women heterozygous for variants causing hemophilia B (heterozygotes) and for women not having variants causing hemophilia (controls).

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