Versiti Medical Sciences Institute and Blood Research Institute, Medical College of Wisconsin, and Children's Wisconsin, Milwaukee, Wisconsin.
Kedrion Biopharma Inc, Fort Lee, New Jersey.
Blood Coagul Fibrinolysis. 2024 Apr 1;35(3):73-81. doi: 10.1097/MBC.0000000000001275. Epub 2024 Feb 21.
Hereditary factor X deficiency (HFXD) is a rare bleeding disorder causing delayed haemostasis and potentially life-threatening bleeds. Patient/caregiver burden and diagnosis path have not been well characterized.
describe the diagnosis path, disease burden, and HFXD impact on quality of life (QoL) in patients and caregivers.This was a prospective, cross-sectional, web-based survey of patients with HFXD and caregivers addressing the patient/caregiver experience, QoL, humanistic and unmet needs.Thirty patients and 38 caregivers completed the survey with mean ages 24.7 and 44.6 years, respectively. Mean age at diagnosis was 4.1 years. The diagnostic process was somewhat/very difficult for 23% of patients and 26% of caregivers. Approximately half (53%) received single factor replacement (SFR) as prophylaxis or on-demand. Most patients (71%) reported regular prophylaxis treatment. Over one-fourth (27%) reported treatment with fresh frozen plasma. Bleeding episodes were less common in patients using SFR versus non-SFR: three bleeds or fewer were reported by 92% SFR and 75% non-SFR patients. HFXD patients reported low well being in work/school/social activities with mean HFXD-adapted Hemophilia Well being Index. Patient symptoms negatively impacted caregiver burden with a mean HFXD-adapted Hemophilia Caregiver Index (±SD) of 15.9 (4.6), but also unexpectedly had a positive impact on self-worth and inner strength.To our knowledge, this is the first study to assess patient and caregiver burden of HFXD and impact on QoL. Improvements in symptom recognition, prompt diagnosis, and adherence to expert recommendations for treatment could improve QoL and decrease burden on HFXD patients and caregivers.
遗传性因子 X 缺乏症（HFXD）是一种罕见的出血性疾病，可导致止血延迟，并可能导致危及生命的出血。患者/照护者的负担和诊断路径尚未得到充分描述。
描述患者和照护者的诊断路径、疾病负担以及 HFXD 对生活质量（QoL）的影响。这是一项针对 HFXD 患者和照护者的前瞻性、横断面、基于网络的调查，旨在了解患者/照护者的体验、QoL、人文需求和未满足需求。30 名患者和 38 名照护者完成了调查，他们的平均年龄分别为 24.7 岁和 44.6 岁。诊断年龄平均为 4.1 岁。23%的患者和 26%的照护者认为诊断过程有些/非常困难。约一半（53%）患者接受单一因子替代（SFR）作为预防或按需治疗。大多数患者（71%）报告定期预防治疗。超过四分之一（27%）患者报告使用新鲜冷冻血浆治疗。使用 SFR 的患者出血事件较不使用 SFR 的患者少：92%的 SFR 患者和 75%的非 SFR 患者报告发生 3 次或更少的出血事件。HFXD 患者报告在工作/学业/社交活动中的整体健康状况较差，平均 HFXD 适应性血友病整体健康指数（HFXD-adapted Hemophilia Well being Index）为 35.4。患者症状对照护者负担产生负面影响，平均 HFXD 适应性血友病照护者指数（HFXD-adapted Hemophilia Caregiver Index）为 15.9（4.6），但出人意料的是，这也对自我价值和内在力量产生积极影响。据我们所知，这是第一项评估 HFXD 患者和照护者负担及其对 QoL 影响的研究。改善症状识别、快速诊断以及遵循专家对治疗的建议，可能会提高 QoL，并减轻 HFXD 患者和照护者的负担。
