背景:变异型转甲状腺素蛋白淀粉样变性(ATTRv)是一种由转甲状腺素蛋白(TTR)基因突变引起的罕见多系统疾病。本工作的目的是描述西班牙无症状携带者(AC)和Coutinho1期ATTRv患者的临床情况。
方法:国家,多中心,横断面研究纳入86例AC和19例确诊患者,在12个月前纳入研究。临床和人口统计数据,TTR基因突变,红旗回忆,收集神经和心脏评估结果.
结果:患者发病时的平均年龄为56.8岁,确诊时的平均年龄为58.6岁;53%的患者和51%的AC患者来自非地方病区。Val50Met是两组中最常见的突变。用SUDOSCAN评估的下肢神经病变损害评分数据(平均17.7±20.5)和小纤维功能显示,患者在神经功能缺损的早期被诊断。周围性多发性神经病(84.2%),自主神经病变(73.7%),心脏改变(63.2%)和胃肠道改变(47.4%)是患者最常见的症状.自主神经病变,胃肠道损伤,腕管综合征,在AC组中,心脏和眼部改变可能与ATTRv相关.
结论:EMPATIa研究提供了西班牙AC和Coutinho1期ATTRv患者的详细描述,确认该疾病的多系统临床特征。这项研究揭示了诊断延迟约1.8年,强调深刻的疾病意识的重要性,以达到早期阶段的神经功能缺损的诊断。
BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain.
METHODS: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment. Clinical and demographical data, TTR gene mutations, red flags anamnesis, neurological and cardiological assessments were collected.
RESULTS: The mean age of patients was 56.8 years at onset and 58.6 years at diagnosis; 53% of patients and 51% of AC were from non-endemic areas. Val50Met was the most frequent mutation in both groups. Neuropathy impairment score data (mean 17.7 ± 20.5) and small-fibre function in lower limbs assessed with SUDOSCAN revealed that patients were diagnosed at early stages of neurological impairment. Peripheral polyneuropathy (84.2%), autonomic neuropathy (73.7%), cardiac (63.2%) and gastrointestinal (47.4%) alterations were the most common symptoms in patients. Autonomic neuropathy, gastrointestinal impairment, carpal tunnel syndrome, cardiac and ocular alterations were potentially related to ATTRv in the AC group.
CONCLUSIONS: The EMPATIa study provides a detailed description of AC and Coutinho stage 1 ATTRv patients across Spain, confirming the multisystemic clinical profile of the disease. This study reveals a diagnosis delay around 1.8 years, highlighting the importance of a profound disease awareness to reach a diagnose in earlier stages of neurological impairment.