Patients with severe hemophilia often experience frequent spontaneous bleeding episodes, which can result in significant morbidity and reduced quality of life.1 However, those with mild to moderate disease rarely experience bleeding-related complications, unless they undergo a surgical procedure or experience trauma.1-2 An ongoing challenge for effective treatment of mild to moderate hemophilia is a lack of data to guide clinical decision-making, largely due to exclusion of patients with this condition from clinical trials and other studies.2
In a review published in Haemophilia, Christopher Walsh, MD, PhD, of the department of medicine at Mount Sinai Hospital in New York, and coauthors summarized current unmet needs in mild to moderate hemophilia and provided suggestions for healthcare professionals, based on a roundtable discussion of hemophilia experts that took place in June 2019.2
The group of experts — including hematologists and other specialist physicians, nurse practitioners, a physician assistant, a registered nurse, caregivers, patients, and members of advocacy organizations from the United States — discussed the available data on patients with mild to moderate hemophilia.
Challenges and Unmet Needs
The meeting participants identified challenges and unmet needs in patients with mild to moderate hemophilia, including women with hemophilia. Some of their statements are summarized in Table 1.
|Table 1. Selected Challenges and Unmet Needs of Patients With Mild to Moderate Hemophilia Identified by the Panel of Experts2|
|Hemophilia knowledge Patients may unknowingly put themselves in higher-risk situations and not recognize a bleeding episode or excessive bleeding when it occursLack of knowledge and minimization of hemophilia in women by clinicians are key challenges in the diagnosis and treatment of women with hemophilia|
|Engagement with the hemophilia treatment center (HTC) and community Patients with mild to moderate hemophilia often have less engagement with the HTC and hemophilia community compared with patients with severe disease|
|Treatment and access considerations Current treatment guidelines are mainly focused on men with severe hemophilia Other concerns include access to clotting factor replacement therapy in the setting of an acute emergency or scheduled procedure|
|Effect on school, work, relationships, and activities Patients will often accumulate work or school absences due to a lack of disease managementDisease-related symptoms can negatively affect interpersonal relationships or limit activities of daily living|
The group also discussed issues specific to women with hemophilia and presented potential solutions for these challenges. Recent evidence has demonstrated that women with hemophilia are often underdiagnosed, which can lead to significant complications; unidentified bleeding may result in joint damage and can have a negative impact on physical activity, mobility, and participation in recreational activities.3
To read the detailed recommendations containing qualifying statements, readers should refer to the full publication in Haemophilia.
After the challenges and unmet needs were identified, the roundtable participants proposed potential solutions to help address these unmet needs, some of which are described in Table 2.
|Table 2. Selected Solutions for Challenges and Unmet Needs in Mild to Moderate Hemophilia Proposed by the Panel of Experts2|
|Develop and advertise HTC/community engagement programs Create and distribute patient and caregiver education/resources for mild to moderate hemophilia by engaging HTCs and the hemophilia community|
|Reinforce training of HTC staff HTC staff should be trained on the unique long-term challenges of the disease, including functional impairment and decreased joint range of motion|
|Audit advocacy organization educational materials Educational material for women with hemophilia should be audited at the organizational level|
|Update existing guidelines Currently, there is a lack of concordance among diagnostic guidelines, which are based on factor levels and outdated epidemiologic dataSeveral diagnostic-specific guideline updates were proposed|
|Collect additional data The scientific body of literature for mild to moderate hemophilia is currently lacking Literature evaluating the impact of mild to moderate hemophilia in patients should include functional impairment over the long term and challenges with health-related quality of life|
|Measure factor levels in women at risk of having hemophilia Measurement of factor activity levels should not be delayed in women at risk for hemophiliaEarly detection allows appropriate treatment for injuries, procedures, and life planning|
The authors noted that this roundtable meeting was only attended by US-based healthcare providers, researchers, and patients. Thus, some of the data may not be applicable to other countries. In addition, they acknowledged that their report was based on the collective reflections of the group; a formal process for consensus was not conducted.
“Patients with moderate to mild hemophilia often have a lack of awareness of the potential seriousness of this disorder, which leads to absenteeism from school/work and challenges in personal relationships,” commented Guy Young, MD, director of the hemostasis and thrombosis program at Children’s Hospital Los Angeles in an email interview.
“I would recommend patients receive care at federally funded hemophilia treatment centers for optimal management,” he further explained.
Disclosure: Some guideline authors have declared affiliations with or received funding from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.
- Benson G, Auerswald G, Dolan G, et al. Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management. Blood Transfus. 2018;16(6):535-544. doi:10.2450/2017.0150-17
- Walsh C, Boggio L, Brown-Jones L, et al. Identified unmet needs and proposed solutions in mild-to-moderate haemophilia:a summary of opinions from a roundtable of haemophilia experts. Haemophilia. Published online February 1, 2021. doi:10.1111/hae.14168
- Di Michele DM, Gibb C, Lefkowitz JM, Ni Q, Gerber LM, Ganguly A. Severe and moderate haemophilia A and B in US females. Haemophilia. 2014;20(2):e136-e143. doi:10.1111/hae.12364