“Before the 1990s, hemophilia patients once faced a life expectancy of just 30 years. With ongoing advancements since the 2000s, life expectancy has risen, and treatment now goes beyond stopping bleeds -- it begins with comprehensive, patient-centered care that aims to address all aspects of a patient’s life.”

Professor Choi Eun-jin of the Department of Pediatrics at Daegu Catholic University Medical Center, who leads the Hemophilia Working Party under the Korean Society of Hematology, emphasized this shift in treatment goals -- moving beyond merely improving the treatment environment to prioritizing patients’ quality of life -- in an interview with Korea Biomedical Review.

“Hemophilia should no longer be treated in isolation simply because it is rare,” Professor Choi said. “True integrated treatment is only possible when various fields, including pediatrics, internal medicine, and rehabilitation medicine, collaborate.

The Hemophilia Working Party is an academic organization established to standardize hemophilia care and improve the treatment environment in Korea. It originated from the Congenital Coagulation Disorders Committee under the Korean Society of Pediatric Hematology-Oncology. Initially led by pediatric hematology-oncology professors, the growing need for adult hemophilia care led to participation from internal medicine, laboratory medicine, and orthopedics, evolving into today’s Hemophilia Working Party.

The Working Party focuses on establishing patient-tailored treatment systems and promoting data-driven research. It has developed patient care manuals and secured data on 2,664 Korean hemophilia patients through the Korean Bleeding Disorder Registry (KBDR)—a national database that collects and tracks health information for individuals with bleeding disorders. Based on these findings, the group is driving tangible systemic changes, such as improving reimbursement criteria and building personalized treatment systems. Korea Biomedical Review spoke with Professor Choi to discuss the group’s role, future goals, and challenges.

Q: The treatment environment for hemophilia has improved compared with the past. How has that changed your focus?

A: In the past, the treatment environment for hemophilia was extremely poor. The support system itself was inadequate, and the drug supply unstable. Because of state restrictions on benefits, medical professionals struggled to provide the care they deemed necessary for each patient. As a result, personalized care was nearly impossible.

Today, the situation has changed significantly. Institutional barriers have largely been resolved, allowing clinicians to develop treatment plans that consider lifestyle and activity levels. Research on such personalized care is also actively underway.

Recently, discussions have shifted from institutional improvements to quality-of-life enhancement for hemophilia patients. As treatment environments improved and life expectancy increased, managing adult comorbidities such as diabetes became an emerging challenge. The Hemophilia Working Party now emphasizes chronic disease management.

Joint bleeding -- affecting over 80 percent of hemophilia patients -- remains a primary concern, and the group is actively discussing prophylactic treatments. Interest is also growing in hemophilia-related comorbidities.

For example, hemophilia patients with coronary artery disease cannot easily use aspirin or antiplatelet agents after stent placement due to bleeding risk. When surgery is required, large doses of clotting factors are needed. Thus, managing comorbidities in hemophilia requires a distinct clinical approach. The emergence of gene therapies has further expanded the scope of research and care.

The Hemophilia Working Party is now addressing not only bleeding management but also overall quality of life and adult-onset diseases, exploring new directions for research and care.

Q: How is the Korean Bleeding Disorder Registry (KBDR) progressing?

A: The first phase of the KBDR is nearing completion. Initially, it focused on registration, medication use, treatment history, and bleeding patterns. Phase 2 adds tracking of joint health and comorbidities and expands into social dimensions such as quality-of-life surveys, psychosocial support, and employment status.

Q: How is KBDR data being used?

A: In Korea, reimbursement limits have made personalized treatment difficult. The Hemophilia Working Party continuously advocates for policy improvements using KBDR data—covering treatment frequency, real-world outcomes, and quality-of-life metrics.

For instance, expanded reimbursement criteria for hemophilia A coagulation factor products in August 2023 were supported by accumulated KBDR data. The findings go beyond cost analysis, showing how treatments improve patients’ daily functioning and social participation—offering strong evidence for a more flexible reimbursement system.

KBDR data has been presented at international conferences, highlighting its potential. While no formal publications exist yet, the data offers rich opportunities for prospective predictive modeling based on future updates.

Q: How do you assess joint health in patients, and what challenges remain?

A: The phase 2 study prioritizes regular evaluation of joint status, but there are practical limits. Simple X-rays only detect established damage, so ultrasound or MRI is needed for early detection—but these are not feasible for all patients.

Hemophilia patients also face barriers to osteoporosis screening due to financial burdens. Although hemophilic arthropathy has a recognized disease code, osteoporosis does not. We are conducting separate studies to present evidence to the Health Insurance Review and Assessment Service (HIRA) to advocate for broader coverage.

Fortunately, accessibility to osteoporosis screening is improving thanks to collaboration with rehabilitation medicine and wider use of ultrasound. Patients and caregivers are also more proactive than before.

Q: What policy and clinical challenges is the Working Party addressing?

A: Personalized treatment based on pharmacokinetics (PK)—how a drug moves through the body—is essential. The key in factor therapy is whether peak levels rise sufficiently after dosing and whether trough levels remain stable before the next dose. These vary among patients, requiring individualized regimens.

Lifestyle also plays a role. For instance, patients who enjoy sports may need extra doses before activity, while office workers may prefer weekday dosing schedules. However, the suspension of in-person education during Covid-19 reduced opportunities for patients to learn PK management. Restoring and expanding such education is crucial.

Q: What further improvements are needed in Korea’s hemophilia treatment system?

A: The challenges hemophilia patients face are complex and cannot be solved by one specialty alone. A multidisciplinary collaboration system is essential, enabling coordinated care across departments.

Another priority is establishing a regular check-up system to detect subclinical bleeding—bleeding that occurs without noticeable symptoms but can cause long-term joint damage. A systematic monitoring structure is needed to catch these cases early.

Developing standardized national guidelines and manuals is also a key goal, especially with new treatments emerging rapidly. Such tools will ensure patients receive timely, consistent care even if multidisciplinary systems are not yet fully in place.