遗传型转甲状腺素蛋白淀粉样变性多学科管理专家共识

Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis

  • 摘要: 遗传型转甲状腺素蛋白淀粉样变性(hereditary transthyretin amyloidosis,ATTRv)是TTR基因致病变异导致的一种罕见的常染色体显性遗传性多系统疾病,主要累及周围神经、心脏、消化道、眼部、肾脏和软脑膜等,单一系统损害的患者较少,需要多学科共同参与该病的管理。ATTRv患者的发病年龄和临床表现差异很大,需要对每个患者的各系统症状进行个体化的管理。为此,我们组织国内神经内科、心血管内科、消化内科和医学遗传科专家,撰写了ATTRv多学科管理专家共识。本共识旨在提高我国临床医师对ATTRv患者的多学科管理水平,同时也为国内该病的防控与医疗政策制定提供参考。

     

    Abstract: Hereditary transthyretin amyloidosis(ATTRv) is a rare autosomal dominant multisystem disease caused by pathogenic variations in the TTR gene, mainly affecting peripheral nerves, heart, digestive tract, eyes, kidneys, and leptomeninges, among others. The isolated single-organ involvement is uncommon, and multidisciplinary collaboration is required for the disease management.The age of onset and clinical manifestations of ATTRv patients vary greatly, and individualized management of each patient's systemic symptoms is needed. To this end, we organized domestic experts in Neurology, Cardiology, Gastroenterology, and Medical Genetics to write the ATTRv multidisciplinary management consensus. This consensus aims to improve the multidisciplinary management of ATTRv patients among clinical physicians in China, while also providing a reference for the prevention, control, and healthcare policy formulation of this disease in China.

     

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