Leonardi Luca, Di Pietro Giuseppe, Di Pasquale Antonella, Vanoli Fiammetta, Fionda Laura, Garibaldi Matteo, Galosi Eleonora, Alfieri Girolamo, Lauletta Antonio, Morino Stefania, Salvetti Marco, Truini Andrea, Antonini Giovanni
Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, 1035-39 Grottarossa St., Rome, Italy.
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Neurol Sci. 2022 May;43(5):3387-3394. doi: 10.1007/s10072-021-05749-3. Epub 2021 Nov 21.
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP.
In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves. In each patient, we used high-resolution ultrasonography to assess 26 nerve sites.
Of the 11 patients with ATTRv-PN, two had electrodiagnostic study data compatible with a CIDP diagnosis. High-resolution ultrasonography showed that the cross-sectional area of the brachial plexus, median nerve at the axilla, arm, and forearm, ulnar nerve at the forearm, and peroneal nerve at the popliteal fossa were significantly smaller in the 11 ATTRv-PN patients than in CIDP patients. However, in the two patients with electrodiagnostic study data compatible with a CIDP diagnosis, high-resolution nerve ultrasonography data were comparable to those in patients with CIDP.
Although high-resolution ultrasonography of peripheral nerves provides reliable information in patients with ATTRv-PN, its usefulness as a standalone diagnostic tool to differentiate ATTRv-PN from CIDP might be limited.
遗传性转甲状腺素蛋白淀粉样变性多发性神经病（ATTRv-PN）仍是一个诊断难题，因为其临床、神经生理学和实验室检查结果提示可能为其他诊断，尤其是慢性炎症性脱髓鞘性多发性神经病（CIDP）。在这项横断面前瞻性研究中，我们旨在探讨外周神经高分辨率超声作为一种诊断工具在鉴别ATTRv-PN与CIDP中的应用价值。
我们收集了11例未经治疗且基因确诊为晚发型ATTRv-PN的患者以及25例CIDP患者的外周神经临床、电诊断和高分辨率超声检查数据。在每位患者中，我们使用高分辨率超声评估26个神经部位。
在11例ATTRv-PN患者中，有2例的电诊断研究数据与CIDP诊断相符。高分辨率超声显示，11例ATTRv-PN患者的臂丛神经、腋窝、上臂和前臂的正中神经、前臂的尺神经以及腘窝处的腓总神经横截面积明显小于CIDP患者。然而，在2例电诊断研究数据与CIDP诊断相符的患者中，高分辨率神经超声检查数据与CIDP患者相当。
尽管外周神经高分辨率超声可为ATTRv-PN患者提供可靠信息，但其作为鉴别ATTRv-PN与CIDP的独立诊断工具的作用可能有限。
