Challenges in transition to adulthood for young adult patients with hemophilia: Quantifying the psychosocial issues and developing solutions
Authors: Michelle Witkop, Christine Guelcher, Angela Forsyth, Doris Quon, Sarah Hawk, Randall Curtis, Susan Cutter, Don Molter, David L. Cooper
Journal: American Journal of Hematology (2015)

Congenital hemophilia is a rare bleeding disorder resulting from a deficiency of coagulation factor VIII in patients with hemophilia A (classic hemophilia) or of factor IX in patients with hemophilia B (Christmas disease) 1. Approximately 20,000 individuals in the United States have been diagnosed with congenital hemophilia 2. Severity of bleeding symptoms is related to the residual amount of factor activity present, with less than 1% representing severe deficiency, 1–5% moderate deficiency, and more than 5% up to 40% mild deficiency. Whereas those with mild disease may only have bleeding with major trauma or surgery, those with severe disease suffer from spontaneous bleeding, most typically in the joints, which results in joint arthropathy, pain, and disability over time. Until the late 1980s and early 1990s, viral contamination of early blood-derived products in the US resulted in a majority of patients becoming infected with human immunodeficiency virus (HIV) and Hepatitis B and C 3, 4. With the development of recombinant factor products, treatment has progressed from treating bleeding episodes acutely (on-demand therapy) to routine administration with a goal of preventing bleeding, known as primary prophylaxis if started early in childhood with normal joints or secondary prophylaxis if initiated after joint bleeding. Improvements in care were also disseminated through a nationwide regional network of hemophilia treatment centers (HTCs), which treat children, adults, or both 5. Psychosocial issues affect the ability of people with hemophilia (PWH) to lead the lives that they desire 6. The Hemophilia Experiences, Results and Opportunities (HERO) initiative was developed to address the need for increased understanding of the psychosocial issues facing PWH and was led in part by a multidisciplinary International Advisory Board of health care professionals (hematologists, nurses, physical therapists, psychologists), patients, and caregivers. Following a systematic literature review 6, qualitative interviews of 150 healthcare professionals, patients, and caregivers in seven countries led to a quantitative survey of 675 adult PWH and 561 caregivers representing 10 countries. Overall results of HERO demonstrated issues with access to treatment and treatment centers even in developed countries, arthropathy-associated pain, and significant impacts of hemophilia on both employment and relationships 7-9. Traditionally, HTCs and recommendations of national organizations have focused on comprehensive care approaches to the transitions associated with childhood development, and a new emphasis at the other end of the spectrum on issues associated with PWH reaching middle-age and advanced years. However, the transition from childhood to adulthood, with increased independence in living situations and financial responsibilities and engagement in adult relationships, may be particularly challenging for young adult PWH (YA-PWH). Little is known specifically on this group between ages 18–30 that spans the pediatric and adult HTC. This supplement provides a quantitative look at the psychosocial issues and quality of life in YA-PWH. Witkop et al. 10 and Curtis et al. 11 present data from the HERO study and Hemophilia Utilization Group Studies (HUGS). Quon et al. 12 then presents a comprehensive approach toward defining the key issues to be addressed by comprehensive care to address this transition group and results of roundtable discussions around solutions. In HERO, the 66 YA-PWH of 189 US adult respondents were more likely to receive prophylaxis than on-demand treatment, with a quarter of US respondents reporting issues with access to factor replacement 10. Many YA-PWH reported comorbidities, including arthritis, chronic pain, and viral infections, and nearly half reported anxiety/depression. Roughly one third reported that hemophilia affected their ability to develop close relationships with a partner, and while nearly four in five US YA-PWH were employed, most reported that hemophilia has had a negative impact on employment 10. Two prospective HUGS cohorts of hemophilia A and B included 141 YA-PWH aged 18–34 from geographically diverse, federally funded HTCs in the US 11. One in four reported comorbidities, including joint pain and a limited range of motion. Older YA-PWH were more likely to report infection with HIV and/or HCV. Nearly half were overweight or obese and one third reported arthritis. Physical domains of quality of life assessments were more significantly impacted than mental health domains 11. Despite having fewer joint problems and somewhat less pain than older adults due to greater access to prophylaxis during childhood, YA-PWH face unique challenges during the transition into adulthood, including switching from pediatric to adult hematology care, building mature relationships, establishing a career, and obtaining medical insurance coverage 12. The specific support needs of YA-PWH may be different in the 18–24 year old group from the 25–30 group, based on HCV and HIV infection rates, life circumstances, maturity and cognitive development, and distance from the pediatric HTC care model 12, and therefore, strategies to address these needs may need to be tailored toward unique needs of these age subgroups. Moving beyond quantification and analysis of the issues facing YA-PWH, there are important opportunities for healthcare professionals at pediatric and adult HTCs, as well as national organizations, community groups, and career counselors, to help YA-PWH overcome physical and psychological barriers faced during the transition into adulthood and reach their personal and professional potential. The overall goals of these strategies are consistent with the major elements of healthcare transition, including the development of a transition policy, the establishment of transition tracking and monitoring processes, assessments of patient transition readiness, and confirmation of an effective transfer in care 13.