Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities in health services; diversity, equity, and inclusion; and implementation science.

BACKGROUND: The National Hemophilia Foundation (NHF) conducted extensive all-stakeholder inherited bleeding disorder (BD) community consultations to inform a blueprint for future research. Sustaining and expanding the specialized and comprehensive Hemophilia Treatment Center care model, to better serve all people with inherited BDs (PWIBD), and increasing equitable access to optimal health emerged as top priorities. RESEARCH DESIGN AND METHODS: NHF, with the American Thrombosis and Hemostasis Network (ATHN), convened multidisciplinary expert working groups (WG) to distill priority research initiatives from consultation findings. WG5 was charged with prioritizing health services research (HSR); diversity, equity, and inclusion (DEI); and implementation science (IS) research initiatives to advance community-identified priorities. RESULTS: WG5 identified multiple priority research themes and initiatives essential to capitalizing on this potential. Formative studies using qualitative and mixed methods approaches should be conducted to characterize issues and meaningfully investigate interventions. Investment in HSR, DEI and IS education, training, and workforce development are vital. CONCLUSIONS: An enormous amount of work is required in the areas of HSR, DEI, and IS, which have received inadequate attention in inherited BDs. This research has great potential to evolve the experiences of PWIBD, deliver transformational community-based care, and advance health equity.

Research into how people get their health care, called health services research, is important to understand if care is being delivered equitably and efficiently. This research figures out how to provide the best care at the lowest cost and finds out if everyone gets equally good care. Diversity and inclusion research focuses on whether all marginalized and minoritized populations (such as a given social standing, race, ethnicity, sex, gender identity, sexuality, age, income, disability status, language, culture, faith, geographic location, or country of birth) receive equitable care. This includes checking whether different populations are all getting the care they need and looking for ways to improve the care. Implementation science studies how to make a potential improvement work in the real world. The improvement could be a new way to diagnose or treat a health condition, a better way to deliver health care or do research, or a strategy to remove barriers preventing specific populations from getting the best available care. The National Hemophilia Foundation focuses on improving the lives of all people with bleeding disorders (BD). They brought BDs doctors, nurses, physical therapists, social workers, professors, and government and industry partners together with people and families living with BDs to discuss research in the areas described above. The group came up with important future research questions to address racism and other biases, and other changes to policies, procedures, and practices to make BD care equitable, efficient, and effective.

Women and girls with heavy menstrual bleeding and inherited bleeding disorders: A call to action for the Haemophilia Treatment Centre Nurse.

Over the last several decades, the increasing focus on women with inherited bleeding disorders (WBD) has brought more patients into Haemophilia Treatment Centres (HTC) around the world. These women present with unique challenges including a significant risk of heavy menstrual bleeding (HMB). The influx of a new patient group has necessitated expansion of the services provided by the multi-disciplinary team in HTCs. Nurses already play a central role in patient and family education within the HTC. As such, they are well positioned to participate in the development of adaptations within the HTC infrastructure to provide clinical care and education specifically for WBD. The nursing experts in HTCs should play an active role in outreach as well as providing education to WBD. Despite this supposition, review of the growing body of literature surrounding the topic of WBD is notable for a paucity of literature highlighting the role of the HTC nurse and potential impact on this, relatively new, but steadily increasing, patient population.

Catheter-Related Venous Thrombosis in Hospitalized Pediatric Patients with Inflammatory Bowel Disease: Incidence, Characteristics, and Role of Anticoagulant Thromboprophylaxis with Enoxaparin.

OBJECTIVE: To describe the incidence and characteristics of central venous catheter (CVC)-related thrombosis in hospitalized pediatric patients with active inflammatory bowel disease (IBD) and report the potential usefulness of anticoagulant thromboprophylaxis (AT). STUDY DESIGN: We conducted a retrospective study of patients who were admitted to our children's hospital in the last 2 years with active IBD and required a CVC and identified all patients with an objectively confirmed symptomatic CVC-related thrombosis. To assess the usefulness of a recently implemented institutional AT protocol, we compared the frequency of CVC-related thrombosis, nadir hemoglobin, and red blood cell transfusion requirements in patients who received AT with those who did not during the study period. RESULTS: A total of 40 patients with IBD who required 47 consecutive hospitalizations were included. AT was administered during 24 of 47 hospitalizations (51%). Patients who received AT were similar to those who did not receive AT with regard to demographics, IBD phenotypes, extent of colonic involvement, and thrombotic risk factors. CVC-related thrombosis occurred in 5 of 23 hospitalizations (22%) in which AT was withheld compared with 0 of 24 hospitalizations (0%) in which patients received AT (P = .02). The red blood cell transfusion requirements and nadir hemoglobin were not significantly different between the 2 groups. CONCLUSIONS: We observed a high incidence of CVC-related thrombosis in hospitalized children with IBD. Administration of AT in our population was associated with significant reduction in CVC-related thrombosis without evidence of increased bleeding.

Evolution of the Treatments for Hemophilia.

Although hemophilia has been recognized for centuries as an inherited disorder primarily affecting males, advances in treatments have been very recent. Initial availability of plasma-derived therapies offered significant improvements in morbidity and mortality, but the transmission of viruses quickly negated the benefit of early factor replacement products. After developing successful viral inactivation methods and subsequently developing recombinant technology, the manufacturing of factor concentrates became much safer. Access to safer factor products allowed for a shift from the treatment of bleeds to prevention, called prophylaxis. Although dosing and interval vary, prevention of joint disease is now a realistic goal. Unfortunately, despite advances in the safety of therapy, some patients are unable to use factor replacement products because they develop antibodies, known as inhibitors. Eradication of inhibitors is possible in the majority of patients, but it is expensive and takes time. Management of acute bleeding may require significantly higher doses of factor replacement or the use of a bypassing agent. As a result, patients with inhibitors are at increased risk for sequelae, including joint disease, life-threatening bleeding, infectious complications with central vascular access devices, and thrombotic complications.