Carpal tunnel syndrome as an early red-flag sign of ATTRwt amyloidosis
Carpal tunnel syndrome as an early red-flag sign of ATTRwt amyloidosis
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腕管综合征是 ATTRwt 淀粉样变性的早期危险信号
DOI：
10.1007/s12350-021-02584-z
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发表时间：
2021
期刊：
影响因子：
2.4
通讯作者：
Fukumoto Y.
中科院分区：
文献类型：
--
作者：
Maeda-Ogata S;Tahara N;Bekki M;Tahara A;Sugiyama Y;Honda A;Igata S;Abe T;Ueda M;Ando Y;Hirooka Y;Fukumoto Y.
一名患有双侧腕管综合征（CTS）的 62 岁男性患者在局部麻醉下接受了手腕腕管松解术。腱滑膜组织中发现少量运甲状腺素蛋白淀粉样蛋白 (ATTR) 沉积（图 1 A、B）。胸部 X 光检查未显示心脏扩大或肺充血（图 1 C）。心电图观察到窦性心律，PQ 间隔稍长，为 220 毫秒，但肢体导联未出现低电压，右心前导联未出现假性梗塞模式（图 1 D）。经胸超声心动图显示左心室 (LV) 弥漫性肥厚 (12mm)，左心室收缩性能（左心室射血分数 = 66%）和舒张功能（E/e’ = 6.2）得以保留。该患者被转诊至我院进一步检查心脏淀粉样变性。测得血浆 N 端脑钠肽前体水平为 76.4 pg/mL。心脏磁共振未见心肌晚期钆强化。 99mTc 标记的骨闪烁扫描显示平面成像上有轻微的心脏摄取（图 1 E）。单光子发射计算机断层扫描/计算机断层扫描融合成像证实了心肌的摄取（图 1 F）。心内膜心肌活检标本中也发现了 ATTR 沉积（图 1 G、H）。基因突变分析确定患者患有野生型转甲状腺素蛋白（ATTRwt）淀粉样变性。大约 40-50% 的 ATTRwt 淀粉样变性患者有 CTS 病史，这是 ATTRwt 淀粉样变性的最初危险信号。 1, 2 在临床环境中，从发生 CTS 到诊断出 ATTRwt 淀粉样变性通常需要大约 7 年时间。 3 仔细检查 CTS 可能有助于 ATTRwt 淀粉样变性的早期诊断。检测早期淀粉样变性至关重要，因为针对淀粉样蛋白级联的新型疾病缓解药物治疗对此类患者具有有利的益处。
A 62-year-old male patient with bilateral carpal tunnel syndrome (CTS) underwent surgical carpal tunnel release procedures of the wrists under local anesthesia. A small amount of transthyretin amyloid (ATTR) deposition was revealed in the tenosynovial tissue (Figure 1 A, B). A chest X-ray did not show either cardiomegaly or pulmonary congestion (Figure 1 C). Sinus rhythm with a slightly prolonged PQ interval of 220 msec, but not low voltage in the limb leads or pseudo-infarct pattern in the right precordial leads was observed on electrocardiography (Figure 1 D). A transthoracic echocardiogram indicated diffuse left ventricular (LV) hypertrophy (12mm) with preserved LV systolic performance (LV ejection fraction= 66%) and diastolic function (E/e’= 6.2). The patient was referred to our hospital for further investigation of cardiac amyloidosis. Plasma N-terminal pro-brain natriuretic peptide level was measured at 76.4 pg/mL. Cardiac magnetic resonance imaging showed no myocardial late gadolinium enhancement. 99mTc-labeled bone scintigraphy indicated slightly cardiac uptake on planar imaging (Figure 1 E). Single-photon emission computed tomography/computed tomography fusion imaging confirmed the uptake to myocardium (Figure 1 F). ATTR deposition was also found in the endomyocardial biopsy specimen (Figure 1 G, H). Gene mutation analysis determined the patient had a wild-type transthyretin (ATTRwt) amyloidosis. Approximately 40-50% of patients with ATTRwt amyloidosis have a history of CTS, which is an initial red-flag sign of ATTRwt amyloidosis. 1, 2 In the clinical settings, it usually takes about 7 years from the onset of CTS to the diagnosis of ATTRwt amyloidosis. 3 Careful examination for CTS might contribute for the diagnosis of ATTRwt amyloidosis at the early stage. It is pivotal to detect the early stage amyloidosis because treatment with novel disease-modifying drugs targeting the amyloid cascade has favorable benefits for such patients.
影响因子：
39.3
作者：
Gonzalez-Lopez, Esther;Gagliardi, Christian;Garcia-Pavia, Pablo
通讯作者：
Garcia-Pavia, Pablo