Baxalta US Inc., A Member of the Takeda Group of Companies, Cambridge, MA, USA.
IQVIA, New York, NY, USA.
Patient. 2019 Oct;12(5):503-512. doi: 10.1007/s40271-019-00365-y.
Thrombotic thrombocytopenic purpura is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia, with variable clinical manifestations (e.g., central nervous system, renal, gastrointestinal, and cardiac effects). This study's objective was to gain an in-depth understanding of patients' experiences with the congenital form of thrombotic thrombocytopenic purpura, including the most salient symptoms and impacts associated with congenital thrombotic thrombocytopenic purpura and its treatment.
An initial conceptual model of thrombotic thrombocytopenic purpura symptoms and impacts was derived from a targeted literature review, refined by interviews with expert hematologists, and further refined by concept elicitation telephone interviews with adults with congenital thrombotic thrombocytopenic purpura in the USA. Patients reported the duration, frequency, and severity experienced for each concept, and rated level of disturbance on a minimum to maximum scale of 0-10.
Interviews were conducted with 11 patients (mean age, 38.2 years; range 21-52 years) in three waves (n = 4, n = 4, n = 3). The most salient symptoms (reported most frequently and rated by patients as most disturbing) were fatigue, headache, bruising, joint pain, muscular pain, forgetfulness, and difficulty communicating. The most salient impacts included diminished ability to work/study, financial distress, feeling depressed, feeling anxious, and mood swings. Patients' comments reflected the pervasive nature of congenital thrombotic thrombocytopenic purpura symptoms and impacts, and unmet treatment needs.
The final conceptual model, which includes salient symptoms and impacts of congenital thrombotic thrombocytopenic purpura and reflects the disease burden, was derived by integrating inputs from the literature review, expert opinion, and patient interviews, and will be used to develop a congenital thrombotic thrombocytopenic purpura-specific, patient-reported outcome instrument.
血栓性血小板减少性紫癜是一种罕见的、危及生命的疾病，其特征为微血管性溶血性贫血和血小板减少，临床表现多样（如中枢神经系统、肾脏、胃肠道和心脏效应）。本研究的目的是深入了解先天性血栓性血小板减少性紫癜患者的患病体验，包括与先天性血栓性血小板减少性紫癜及其治疗相关的最显著症状和影响。
通过靶向文献回顾，初步得出血栓性血小板减少性紫癜症状和影响的概念模型，通过对专家血液学家的访谈进行改进，并通过在美国与先天性血栓性血小板减少性紫癜成人进行概念发掘电话访谈进一步完善。患者报告了每个概念的持续时间、频率和严重程度，并根据 0-10 的最小到最大评分标准对干扰程度进行评分。
分三批进行了 11 名患者（平均年龄 38.2 岁；范围 21-52 岁）的访谈（n=4，n=4，n=3）。最显著的症状（报告最频繁且患者评分最干扰）是疲劳、头痛、瘀伤、关节痛、肌肉痛、健忘和沟通困难。最显著的影响包括工作/学习能力下降、经济困难、抑郁、焦虑和情绪波动。患者的评论反映了先天性血栓性血小板减少性紫癜症状和影响的普遍性以及未满足的治疗需求。
最终的概念模型包括先天性血栓性血小板减少性紫癜的显著症状和影响，并反映了疾病负担，是通过整合文献综述、专家意见和患者访谈的输入得出的，将用于开发先天性血栓性血小板减少性紫癜特异性的患者报告结局工具。
