Presentation Details
Burden of disease and impact on quality of life in hereditary factor X deficiency patients who were diagnosed at birth: Findings from the Hereditary Factor X Deficiency in America Survey

Kim Clark1, Amy Wu2, Denise A.Garner2, Lorie Mody2, Jaymin Patel2, Brian Branchford3.

1Kedrion Biopharma, INC., Fort Lee, NJ, USA.2AESARA, INC., Chapel Hill, NC, USA.3Versiti Blood Research Institute, Medical College of Wisconsin, and Children's Wisconsin, Milwaukee, WI, USA

Abstract


Background: Hereditary factor X deficiency (HFXD) is a rare genetic coagulation disorder leading to delayed hemostasis and potentially life-threatening bleeding. Disease burden is variable, possibly related to how early HFXD is diagnosed. Differences in burden and quality of life (QoL) related to diagnosis timing have not been well characterized. Objectives: Examine disease burden and patient-level QoL based on HFXD diagnosis timing. Methods: A prospective cross-sectional web-based survey of patients with HFXD and their caregivers was conducted. Eligible individuals were identified by Hemophilia Treatment Centers, physicians, specialty pharmacies, social media, and patient advocacy groups. The survey assessed treatment patterns, patient satisfaction with diagnostic process, bleeding events, and QoL. Patient-level disease burden was measured using the Hemophilia Well-being Index (HWBI) and Short-Form Health Survey 12 (SF-12). HWBI has a maximum score of 32 with higher scores indicating better well-being. The SF-12 is an overall QoL measure with scores ranging from 0-100 for each component (physical and mental) with lower scores related to worse QoL. Patients were stratified into groups by time of diagnosis—at birth and not at birth. Diagnosed at birth was identified based on survey response stating diagnosed at birth. Descriptive results are presented. Results: Thirty total HFXD patients were included: 13 (43.3%) were diagnosed at birth and 17 (56.7%) were diagnosed later (Table 1). Mean age at time of survey of those diagnosed a birth was 20.9 years (46.2% female, 66.7% White, and 25.0% Asian). Of those not diagnosed at birth, mean age at time of survey was 27.6 years (70.6% female, 29.4% White and 29.4% Asian); median age at diagnosis was 4.0 years (range: 4 days to 21 years). A majority of patients in the diagnosed at birth and not diagnosed at birth cohorts were on regular prophylaxis: 75.0% (n=9) and 68.8% (n=11), respectively. Of those diagnosed at birth, 38.5% (n=5) were receiving single-factor replacement (SFR) treatment while 64.7% (n=11) not diagnosed at birth were receiving SFR. However, of those diagnosed at birth and receiving SFR treatment, 80.0% (n=4) were also receiving other treatments while only 27.3% (n=3) of those not diagnosed at birth and receiving SFR treatment were also receiving other treatments. Patients diagnosed at birth (n=10) had similar overall well-being per HWBI (21, SD: 7.3) to patients diagnosed later in life (n=17) (20, SD: 10). Ten patients diagnosed at birth and 17 not diagnosed at birth completed the SF-12. Patients diagnosed at birth recorded lower mean physical and mental component scores (Table 1). Bleeding in the joints, in the muscles, and within the skull or brain were reported at a higher frequency in the diagnosed at birth cohort (Table 2). Conclusions: Burden is high in patients with HFXD. Patients diagnosed at birth tended to have lower overall QoL, higher reported episodes of joint, muscle, and brain bleeding, and were more likely to be currently on multiple therapies including SFR relative to those who were not diagnosed at birth.  

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