Current challenges for men and women with mild‐to‐moderate haemophilia

Abstract

Current treatments in the field of haemophilia are changing the phenotype of many patients with severe haemophilia to that of mild haemophilia. Although this has the potential to improve the quality of life of these patients, 1 many unmet needs remain in patients with mild-to-moderate haemophilia. Bleeding phenotypes in patients with mild-to-moderate haemophilia A, especially those with high-moderate haemophilia (factor VIII [FVIII] levels >2%), are variable; many patients only experience bleeding after trauma. 2 Therefore, these individuals may lack the ability to recognize a bleed and to self-infuse factor treatments, leading to musculoskeletal complications, including poor joint outcomes. Importantly, patients with mild-to-moderate haemophilia A or haemophilia B are often not included in or a focus of clinical trials 3 ; thus, there is a need for large, prospective studies to assess which patients could benefit from innovative treatments and to identify outcomes for this patient population. 2 | UNI QUE AT TRIBUTE S OF PATIENTS WITH MILD-TO-MODER ATE HAEMOPHILIA Patients with mild-to-moderate haemophilia possess several unique attributes, including a challenging diagnosis, variability in bleeding symptoms and treatment needs, and disease complications. Diagnosis of mild-to-moderate haemophilia A is often difficult, owing to significant variability in FVIII levels and bleeding symptoms. 4 Notably, the diagnosis may be missed or delayed as a consequence of normal screening test results. 3,5 Therefore, many patients with mild-to-moderate haemophilia are diagnosed at an older age than those with severe haemophilia; diagnosis usually occurs after a trauma or surgery. 4,5 In patients with moderate and severe haemophilia A, FVIII levels are generally concordant when measured by one-stage or chromogenic clotting factor assays. However, in approximately 30% of patients with mild haemophilia A, discrepancy in the one-stage and chromogenic assays may be seen. 6 This

The current challenges faced by people with hemophilia B

“…23 People with mild-to-moderate hemophilia can experience a challenging diagnosis such as variability in bleeding symptoms, treatment needs, and disease complications, and many are diagnosed at an older age compared with people who have more severe hemophilia. 25,36 The goal of prophylaxis in hemophilia is to reach a mild-to-moderate phenotype from a severe phenotype, which is not inclusive of all PWH. 1 Clear recommendations regarding prophylaxis for people with mild hemophilia are lacking, as, currently, evidence is insufficient.…”

“…1 Additionally, even when bleeds are identified, many people with mild hemophilia are unable to self-administer factor replacement products due to their limited knowledge and lesser engagement with their healthcare team compared with people with severe hemophilia, often resulting in delays in bleed management. 23,25,36 This can result in joint and tissue damage, and musculoskeletal complications. 1 Subsequently, people with mild-to-moderate hemophilia can experience pain and limited mobility, affecting their ability to complete tasks efficiently by themselves, which can impact their self-esteem and lead to depression.…”

“…1 Subsequently, people with mild-to-moderate hemophilia can experience pain and limited mobility, affecting their ability to complete tasks efficiently by themselves, which can impact their self-esteem and lead to depression. 25,36 As a result of less frequent hemophilia treatment center (HTC) visits and community engagement, the likelihood of receiving and retaining information about diagnosis and disease management is lower for people with mild-to-moderate hemophilia compared with people who have severe hemophilia. 25 Limited research into the challenges experienced by people with mild-to-moderate hemophilia means outcomes important to PWH specific to this subgroup cannot be fully identified.…”

“…38,41 Women and girls with hemophilia of mild-to-moderate severity face the same symptoms and complications as men with hemophilia, although additional challenges persist. 36 Excessive and prolonged menstrual bleeding is a common symptom experienced by women and girls with hemophilia, leading many to their first visit to the clinic. This requires suitable therapeutic control, although this is not always achieved to a sufficient degree.…”

“…Generally, the diagnosis of mild hemophilia only occurs once the individual has presented a bleeding episode (unless there is a family history of hemophilia) 23 . People with mild‐to‐moderate hemophilia can experience a challenging diagnosis such as variability in bleeding symptoms, treatment needs, and disease complications, and many are diagnosed at an older age compared with people who have more severe hemophilia 25,36 …”