Background

Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.

Methods

Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers.

Results

Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001).

Conclusions

The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).

中文翻译：

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遗传性转甲状腺素蛋白淀粉样变性的神经超声：危险信号和可能的进展生物标志物。

背景

遗传性转甲状腺素蛋白淀粉样变性（ATTRv，v 为变异体）的诊断延迟会妨碍及时治疗，因此导致该疾病的死亡率较高。本研究的目的是探索神经超声 (US) 可能对患有腕管综合征 (CTS) 和/或多发性神经病的 ATTRv 患者以及有症状前携带者进行早期诊断的危险信号。

方法

具有 TTR 基因突变的患者和症状前携带者从七个意大利中心招募。通过神经生理学和临床评估来评估 CTS 的严重程度。正中神经横截面积 (CSA) 是通过 US 测量 ATTRv 携带者的 CTS (TTR-CTS)。一千一百九十六例特发性 CTS 被用作对照。还对患有多发性神经病的 ATTRv 患者和症状前携带者的多个神经干（正中神经、尺神经、桡神经、臂丛神经、胫神经、腓神经、坐骨神经、腓肠神经）进行了神经超声检查。

结果

招募了 62 名具有 TTR 基因突变的受试者（34 名男性，28 名女性，平均年龄 59.8 岁±12 岁）。关于 CTS，在特发性 CTS 中，CTS 严重程度与正中神经 CSA 之间存在直接相关性（r  = 0.55，p  < 0.01），而在 TTR-CTS 受试者亚组中（16 名受试者，5 名双侧 CTS），CSA 没有与 CTS 严重程度没有显着相关性 ( r  = − 0.473)。患有多发性神经病的 ATTRv 患者在多个神经部位表现出比症状前携带者更大的 CSA，在臂丛处更明显 ( p  < 0.001)。

结论

本研究确定了可能有助于早期诊断（CTS 中正中神经形态功能分离）和监测症状前 TTR 携带者（近端神经部位较大的神经 CSA，尤其是臂丛）的神经形态超声模式。