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Abstract：
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.
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.
摘要：
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，其特征是感觉和自主神经功能障碍。有许多报道称TTR-FAP误诊为慢性炎症性脱髓鞘性多发性神经病（CIDP），导致诊断延迟,医源性不良事件的风险和增加的社会经济成本。通过电化学皮肤电导（ESC）测量的定量sudomotor功能似乎是TTR-FAP中的敏感测试。我们旨在评估ESC在区分TTR-FAP与CIDP方面的表现。
本研究涉及38例遗传证实的遗传性TTR淀粉样变性患者和26例符合EFNS/PNS指南且TTR-FAP基因检测阴性的患者。我们比较了每位患者通过Sudoscan测量的脚和手的ESC。
双手（72vs45，p<0.0001）和脚（77vs35，p<0.0001）的TTR-FAPESC（µS）显着降低。FeetESC<64µS对CIDP和TTR-FAP之间的区分具有89%的灵敏度和96%的特异性。
Sudoscan是一种快速，非侵入性和易于执行的测试，能够区分CIDP和TTR-FAP患者具有良好的敏感性和特异性。
Sudoscan有助于区分CIDP和TTR-FAP。
本研究涉及38例遗传证实的遗传性TTR淀粉样变性患者和26例符合EFNS/PNS指南且TTR-FAP基因检测阴性的患者。我们比较了每位患者通过Sudoscan测量的脚和手的ESC。
双手（72vs45，p<0.0001）和脚（77vs35，p<0.0001）的TTR-FAPESC（µS）显着降低。FeetESC<64µS对CIDP和TTR-FAP之间的区分具有89%的灵敏度和96%的特异性。
Sudoscan是一种快速，非侵入性和易于执行的测试，能够区分CIDP和TTR-FAP患者具有良好的敏感性和特异性。
Sudoscan有助于区分CIDP和TTR-FAP。
