Lovley Andrew, Raymond Kimberly, Guthrie Spencer D, Pollock Michael, Sanchorawala Vaishali, White Michelle K
QualityMetric Incorporated, LLC, 1301 Atwood Avenue, Suite 216E, Johnston, RI, 02919, USA.
Aurora Bio, San Francisco, CA, USA.
J Patient Rep Outcomes. 2021 Jan 7;5(1):3. doi: 10.1186/s41687-020-00273-y.
Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive, and life-threatening disease in which transthyretin proteins misfold and aggregate as insoluble amyloid deposits, disrupting nervous, cardiac, gastrointestinal, and other organ tissues. There are limited available data about the experience of patients living with hATTR amyloidosis. This study used a qualitative, non-interventional design to explore the humanistic burden of hATTR amyloidosis from the patient's perspective.
Fourteen adults with hATTR amyloidosis, recruited from a patient advocacy group or an academic clinical center, participated in individual semi-structured interviews either in person or by telephone. Patients were asked to describe their experiences living with the condition, including symptoms and disease-related impacts on functioning and well-being, work, and activities of daily living (ADLs). Interviews were transcribed verbatim and analyzed for key concepts using a grounded theory approach. Patients described many symptoms of hATTR amyloidosis, particularly those associated with peripheral neuropathy such as pain, numbness, weakness, and paresthesia. Symptoms of autonomic neuropathy, such as gastrointestinal dysfunction, and symptoms related to cardiac dysfunction were also common. Worsening symptoms, especially those impacting patients' ability to walk or use their hands, often led to a loss of autonomy and an inability to work or perform ADLs. Disease-related disability also interfered with patients' participation in social activities, and contributed to feelings of fear, frustration, or sadness.
The impacts of hATTR amyloidosis were profound for the patients interviewed for this study. They described a sense of loss as their condition progressed and impacted them physically, emotionally, and socially. Patients' reports of symptoms and impacts of hATTR amyloidosis illustrate the complex and varied manifestations of this disease. The progression of symptoms and increasing impacts of hATTR amyloidosis also highlight the need for an earlier diagnosis and effective clinical intervention to preserve patients' functioning and well-being.
遗传性转甲状腺素蛋白（hATTR）淀粉样变性是一种罕见的、全身性的、进行性的且危及生命的疾病，其中转甲状腺素蛋白会错误折叠并聚集成不溶性淀粉样沉积物，破坏神经、心脏、胃肠道及其他器官组织。关于hATTR淀粉样变性患者的经历，现有数据有限。本研究采用定性、非干预性设计，从患者角度探讨hATTR淀粉样变性的人文负担。
从一个患者倡导组织或一个学术临床中心招募了14名患有hATTR淀粉样变性的成年人，他们亲自或通过电话参与了个人半结构化访谈。患者被要求描述他们患这种疾病的经历，包括症状以及疾病对功能、幸福感、工作和日常生活活动（ADL）的影响。访谈逐字记录，并采用扎根理论方法分析关键概念。患者描述了hATTR淀粉样变性的许多症状，特别是那些与周围神经病变相关的症状，如疼痛、麻木、无力和感觉异常。自主神经病变的症状，如胃肠功能障碍，以及与心脏功能障碍相关的症状也很常见。症状加重，尤其是那些影响患者行走或使用双手能力的症状，常常导致自主性丧失，无法工作或进行ADL。与疾病相关的残疾也干扰了患者参与社交活动，并导致恐惧、沮丧或悲伤情绪。
hATTR淀粉样变性对本研究中接受访谈的患者影响深远。他们描述了随着病情进展，在身体、情感和社交方面对他们造成影响时的失落感。患者对hATTR淀粉样变性症状和影响的报告说明了这种疾病复杂多样的表现形式。hATTR淀粉样变性症状的进展和影响的增加也凸显了早期诊断和有效临床干预以维持患者功能和幸福感的必要性。
