Karam Chafic, Mauermann Michelle L, Gonzalez-Duarte Alejandra, Kaku Michelle C, Ajroud-Driss Senda, Brannagan Thomas H, Polydefkis Michael
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Muscle Nerve. 2024 Mar;69(3):273-287. doi: 10.1002/mus.28026. Epub 2024 Jan 4.
Hereditary transthyretin (ATTRv; v for variant) amyloidosis is a rare, multisystem, progressive, and fatal disease in which polyneuropathy is a cardinal manifestation. Due to a lack of United States (US)-specific guidance on ATTRv amyloidosis with polyneuropathy, a panel of US-based expert clinicians convened to address identification, monitoring, and treatment of this disease. ATTRv amyloidosis with polyneuropathy should be suspected in unexplained progressive neuropathy, especially if associated with systemic symptoms or family history. The diagnosis is confirmed through genetic testing, biopsy, or cardiac technetium-based scintigraphy. Treatment should be initiated as soon as possible after diagnosis, with gene-silencing therapeutics recommended as a first-line option. Consensus is lacking on what represents "disease progression" during treatment; however, the aggressive natural history of this disease should be considered when evaluating the effectiveness of any therapy.
遗传性转甲状腺素蛋白（ATTRv；v代表变异型）淀粉样变性是一种罕见的、多系统的、进行性的致命疾病，其中多发性神经病是主要表现。由于缺乏针对美国的关于伴有多发性神经病的ATTRv淀粉样变性的指南，一组美国临床专家召开会议，以探讨该疾病的识别、监测和治疗。对于不明原因的进行性神经病，尤其是伴有全身症状或家族史的情况，应怀疑患有伴有多发性神经病的ATTRv淀粉样变性。通过基因检测、活检或基于心肌锝的闪烁扫描来确诊。诊断后应尽快开始治疗，推荐基因沉默疗法作为一线选择。对于治疗期间何为“疾病进展”尚无共识；然而，在评估任何治疗的有效性时，应考虑该疾病侵袭性的自然病程。
