Neuromuscular Disease and ALS Reference Center, Timone University Hospital, Aix-Marseille University, Marseille, France.
Neuromuscular Disease and ALS Reference Center, Timone University Hospital, Aix-Marseille University, Marseille, France.
Clin Neurophysiol. 2020 May;131(5):1129-1133. doi: 10.1016/j.clinph.2020.01.022. Epub 2020 Feb 21.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an aggressive hereditary neuropathy characterized by sensory and autonomic dysfunction. There are numerous reports of TTR-FAP misdiagnosed and treated as chronic inflammatory demyelinating polyneuropathy (CIDP), leading to delayed diagnosis, risk of iatrogenic adverse events and increased socio-economic costs. Quantitative sudomotor function measured by electrochemical skin conductance (ESC) appears to be a sensitive test in TTR-FAP. We aimed to evaluate the performance of ESC in differentiating TTR-FAP from CIDP.
Thirty-eight patients with genetically confirmed hereditary TTR amyloidosis and 26 with definite CIDP according to the EFNS/PNS guidelines and negative TTR-FAP genetic testing were involved in this study. We compared the ESC for feet and hands measured by Sudoscan for each patient.
ESC (µS) was significantly lower in TTR-FAP for both hands (72 vs 45, p < 0.0001) and feet (77 vs 35, p < 0.0001). Feet ESC < 64 µS had a 89% sensitivity and a 96% specificity to differentiate between CIDP and TTR-FAP.
Sudoscan is a fast, non-invasive and easy to perform test, able to distinguish CIDP and TTR-FAP patients with good sensitivity and specificity.
Sudoscan can be helpful in distinguishing between CIDP and TTR-FAP.
转甲状腺素蛋白家族性淀粉样多发性神经病（TTR-FAP）是一种侵袭性遗传性神经病，其特征为感觉和自主神经功能障碍。有大量 TTR-FAP 误诊为慢性炎症性脱髓鞘性多发性神经病（CIDP）的报道，导致诊断延迟、医源性不良事件风险增加和社会经济成本增加。电化学皮肤电导（ESC）测量的定量出汗功能似乎是 TTR-FAP 的一项敏感测试。我们旨在评估 ESC 在区分 TTR-FAP 与 CIDP 方面的性能。
本研究纳入了 38 名经基因证实的遗传性 TTR 淀粉样变性患者和 26 名根据 EFNS/PNS 指南确诊的 CIDP 患者，且 TTR-FAP 基因检测为阴性。我们比较了每位患者的 Sudoscan 测量的手部和足部 ESC。
TTR-FAP 患者的手部（72 对 45，p<0.0001）和足部（77 对 35，p<0.0001）的 ESC（µS）均显著较低。足部 ESC<64 µS 对区分 CIDP 和 TTR-FAP 的敏感性为 89%，特异性为 96%。
Sudoscan 是一种快速、非侵入性且易于进行的测试，能够以良好的敏感性和特异性区分 CIDP 和 TTR-FAP 患者。
Sudoscan 有助于区分 CIDP 和 TTR-FAP。
