BACKGROUND Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with general population, as well as to explore health-related quality of life prognostic factors among patients, including disease progression and treatment. METHODS This study was a multi-institutional, longitudinal, prospective, observational study of hereditary Transthyretin Amyloidosis Polyneuropathy Portuguese adult subjects (621 asymptomatic carriers and 733 symptomatic patients) enrolled in the Transthyretin Amyloidosis Outcomes Survey. Health-related quality of life was captured with the preference-based instrument EQ-5D-3 L. For general population the dataset included all subjects enrolled in a representative national study (n = 1500). Different econometric models were specified; multivariate probit, generalized linear model and generalized estimating equations model; including demographic and clinical covariates. RESULTS Hereditary Transthyretin Amyloidosis Polyneuropathy patients have their health status severely impaired in all quality of life dimensions and more anxiety/depression problems were found among asymptomatic carriers. No differences on utility were found between carriers and general population (p = 0.209). Among patients, the utility value is estimated to be 0.51 (0.021), a decrement of 0.27 as compared with general population utility. Higher disease duration, advanced disease stage and not receiving treatment are associated with impaired health-related quality of life. No differences were found between genders (p = 0.910) or between late (≥50 years) and early-onset patients (p = 0.254). The utility estimate ranged from 0.63 (0.009) in stage I to 0.01 (0.005) in stage IV. CONCLUSIONS Hereditary Transthyretin Amyloidosis Polyneuropathy symptoms and progressive associated disabilities substantially decrease patient's health-related quality of life. Clinical strategies focused on health-related quality of life preservation such as close follow-up of asymptomatic carriers, prompt diagnosis and adequate, early treatment would benefit patient's long-term outcomes, slowing the progressive decline in health-related quality of life.

中文翻译：

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遗传性甲状腺素转运蛋白淀粉样变性多发性神经病的健康相关生活质量：一项前瞻性观察研究。

背景技术遗传性运甲状腺素蛋白淀粉样变性多发性神经病是一种罕见的威胁生命的神经系统疾病，可导致相当高的死亡率，并与进行性相关的残疾有关。在这项研究中，我们旨在评估该疾病在突变携带者和患者中跨健康相关生活质量维度的影响，以将健康相关生活质量与一般人群进行比较，并探索健康状况。患者生活质量的相关预后因素，包括疾病的进展和治疗。方法本研究是遗传性甲状腺素转运蛋白淀粉样变性多发性神经病的多机构，纵向，前瞻性，观察性研究。葡萄牙成年人（甲状腺素转运蛋白621名无症状携带者和733名有症状患者）参加了甲状腺素转运蛋白淀粉样变性结果调查。使用基于偏好的仪器EQ-5D-3 L捕获与健康有关的生活质量。对于一般人群，该数据集包括参与代表性国家研究的所有受试者（n = 1500）。指定了不同的计量经济学模型。多元概率，广义线性模型和广义估计方程模型；包括人口统计和临床协变量。结果遗传性运甲状腺素蛋白淀粉样变性多发性神经病患者的健康状况在所有生活质量维度上均受到严重损害，并且在无症状携带者中发现更多的焦虑/抑郁问题。在携带者和普通人群之间没有发现效用差异（p = 0.209）。在患者中，效用值估计为0.51（0.021），与一般人群效用相比减少了0.27。疾病持续时间更长 疾病晚期，未接受治疗与健康相关的生活质量受损有关。性别（p = 0.910）或晚期（≥50岁）和早发患者（p = 0.254）之间没有差异。效用估算值从第一阶段的0.63（0.009）到第四阶段的0.01（0.005）不等。结论遗传性甲状腺素转运蛋白淀粉样变性多发性神经病的症状和进行性相关残疾大大降低了患者与健康相关的生活质量。专注于健康相关生活质量的临床策略，例如对无症状携带者的密切随访，及时诊断和适当的早期治疗，将有益于患者的长期结果，减缓健康相关生活质量的逐步下降。