Data Sheet 1_Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group.docx

Transthyretin amyloidosis (ATTR) is a rare disease caused by the extracellular accumulation of misfolded transthyretin (TTR) amyloid fibrils. ATTR can be either hereditary (ATTRv) or acquired (wtATTR). ATTRv is caused by a mutation in the transthyretin gene (TTR) with an autosomal dominant pattern of inheritance. In ATTRv amyloidosis, some patients primarily exhibit symptoms of polyneuropathy others mainly or exclusively present with symptoms of cardiomyopathy. However, many patients present with a multisystemic involvement that includes sensory, motor, autonomic, and cardiac symptoms. Early diagnosis and detection of disease progression are emerging as a crucial need for ATTR amyloidosis in order to significantly impact survival, patients’ functions and quality of life. Currently, parameters to be monitored in ATTR patients in the real life might refer to some publicly available recommendations regarding the monitoring and assessment of disease progression in the real-world setting of patients with ATTRv. Nonetheless, a standardized disease monitoring protocol has not been established in Italy, posing a significant unmet need for a prompt and equal access to care. Therefore, in the Emilia-Romagna Region the “ATTR Working Group” has sought to tailor the recommendations to the Regional “real clinical setting” in order to optimize and standardize a monitoring protocol aimed at identifying disease progression. Patients’ and carriers’ access to uniform monitoring routes across the entire Region ensures optimal disease management and economic sustainability.

转甲状腺素蛋白淀粉样变性（Transthyretin Amyloidosis, ATTR）是一种由错误折叠的转甲状腺素蛋白（TTR）淀粉样纤维在细胞外沉积引发的罕见疾病。ATTR可分为遗传性（ATTRv）与获得性（wtATTR）两种类型：ATTRv由转甲状腺素蛋白基因（TTR）突变所致，遗传模式为常染色体显性遗传。在ATTRv淀粉样变性患者中，部分患者以多发性神经病为主要临床表现，另有部分患者主要或仅表现为心肌病症状；但也有诸多患者存在多系统受累，涵盖感觉、运动、自主神经及心脏相关症状。早期诊断与疾病进展监测现已成为ATTR淀粉样变性诊疗的核心需求，因其可显著改善患者的生存结局、躯体功能与生活质量。当前，ATTR患者真实世界中的监测参数可参照部分针对ATTRv患者真实世界场景下疾病进展监测与评估的公开指南。然而，意大利尚未建立标准化的疾病监测方案，这导致患者难以获得及时且均等的医疗服务，存在显著的未被满足的医疗需求。为此，艾米利亚-罗马涅大区的ATTR工作组（"ATTR Working Group"）旨在结合本区域真实临床场景对现有指南进行适配优化，以建立并标准化一套可用于识别疾病进展的监测方案。在全区域范围内为患者及致病基因携带者提供统一的监测路径，可实现最优的疾病管理与医疗资源的经济可持续性。