Abstract：
OBJECTIVE: We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg.
METHODS: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance.
RESULTS: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients.
CONCLUSIONS: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.
METHODS: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance.
RESULTS: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients.
CONCLUSIONS: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.
摘要：
目的：我们旨在描述ATTR变异型多发性神经病（ATTRv-PN）和ATTRv混合型患者的特征，并评估他法米葡甲胺20mg的实际使用和安全性。
方法：邀请了38家法国医院。患者档案进行了审查，以确定临床表现，诊断方法,和治疗依从性。
结果：四百十三例患者（296ATTRv-PN，117ATTRv混合)进行分析。患者主要为男性（68.0％），平均年龄为57.2±17.2岁。首发症状和诊断之间的间隔为3.4±4.3年。首发症状包括感觉不适（85.9%），自主神经失调(38.5%)，运动障碍(26.4%)，腕管综合征（31.5%），呼吸急促（13.3%），和无法解释的体重减轻（16.0％）。微创副唾液腺或穿孔皮肤和神经活检最常见，性能为78.8-100%。TTR基因测序，在所有患者中进行，揭示了31个TTR变体。在156/214（72.9％）ATTRv-PN患者中，在疾病早期阶段开始使用Tafamidis葡甲胺。ATTRv-PN患者的中位治疗时间为6.00年，ATTRv混合患者的中位治疗时间为3.42年。Tafamidis的耐受性很好，在336例患者中，有20例可能与研究药物有关的不良事件。
结论：在法国，由于国家网络以及结合基因检测和微创活检的诊断帮助，ATTRv患者通常可以早期识别。
方法：邀请了38家法国医院。患者档案进行了审查，以确定临床表现，诊断方法,和治疗依从性。
结果：四百十三例患者（296ATTRv-PN，117ATTRv混合)进行分析。患者主要为男性（68.0％），平均年龄为57.2±17.2岁。首发症状和诊断之间的间隔为3.4±4.3年。首发症状包括感觉不适（85.9%），自主神经失调(38.5%)，运动障碍(26.4%)，腕管综合征（31.5%），呼吸急促（13.3%），和无法解释的体重减轻（16.0％）。微创副唾液腺或穿孔皮肤和神经活检最常见，性能为78.8-100%。TTR基因测序，在所有患者中进行，揭示了31个TTR变体。在156/214（72.9％）ATTRv-PN患者中，在疾病早期阶段开始使用Tafamidis葡甲胺。ATTRv-PN患者的中位治疗时间为6.00年，ATTRv混合患者的中位治疗时间为3.42年。Tafamidis的耐受性很好，在336例患者中，有20例可能与研究药物有关的不良事件。
结论：在法国，由于国家网络以及结合基因检测和微创活检的诊断帮助，ATTRv患者通常可以早期识别。
