Drăghici Mirela, Bădeliță Sorina N, Jercan Andreea, Obrișcă Oana, Vîlciu Crisanda, Popescu Monica, Turcu-Stiolica Adina, Coriu Daniel
Fundeni Clinical Institute, 022328 Bucharest, Romania.
Hematology Department, University of Medicine and Pharmacy Carol Davila, 020021 Bucharest, Romania.
Medicina (Kaunas). 2024 Dec 9;60(12):2027. doi: 10.3390/medicina60122027.
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types. In amyloidosis, peripheral nervous system involvement is a significant diagnostic feature, particularly when it manifests as polyneuropathy, carpal tunnel syndrome (CTS), and dysautonomia. These neurological symptoms often point to the involvement of amyloid deposits in the peripheral and autonomic nervous systems, which can help identify and differentiate between the various types of amyloidosis. : This retrospective study focused on the evolution of electrophysiological parameters in two groups: AL ( = 22) and hATTR-Glu54Gln patients ( = 14), with mixed axonal polyneuropathy. Patients were followed for two consecutive years to assess disease progression. The PND scale (polyneuropathy disability) was also used to assess motor impairment for each patient. : In our study AL amyloidosis patients presented with mixed, axonal polyneuropathy associated with CTS in 63.6% of cases and cardiomyopathy (45.5%). Serial EMGs (electromyography) showed decreased motor amplitudes of the common peroneal and tibial nerves and sensory amplitude of the superficial peroneal nerve, with mostly preserved conduction velocities. The patients maintained stage I PND throughout the monitoring period. The entire hATTR group displayed mixed, axonal polyneuropathy and cardiomyopathy; 85.7% of them had CTS, and 42.9% had orthostatic hypotension. EMG data showed decreased motor amplitudes of the tibial and common peroneal nerves, decreased sensory amplitudes of the superficial peroneal nerve, and mildly reduced conduction velocities, with significant progression at 12 and 24 months. The patients displayed additional reduced muscle strength, some reaching stage 3A and 3B-PND at the end of the study. : The amyloidotic polyneuropathy found in the groups was similar in its axonal, sensory-motor, and length-dependent characteristics, but the study showed significant differences in its progression, with more abrupt changes in the hATTR-Glu54Gln group. The amyloidosis AL patients remained in stage 1 PND, while the hATTR-Glu54Gln patients progressed to stage 3 PND at 24 months.
淀粉样变性是一种以蛋白质异常折叠为特征的疾病,会形成不溶性纤维,这些纤维在组织和器官中积累。这种积累会破坏正常的组织结构和器官功能,常常会带来严重后果,若不治疗甚至会导致死亡。轻链淀粉样变性(AL)和遗传性转甲状腺素蛋白型淀粉样变性(hATTR)是两种最常见的类型。在淀粉样变性中,外周神经系统受累是一个重要的诊断特征,尤其是当它表现为多发性神经病、腕管综合征(CTS)和自主神经功能障碍时。这些神经症状往往表明淀粉样沉积物累及外周和自主神经系统,这有助于识别和区分不同类型的淀粉样变性。
22例AL患者和14例hATTR - Glu54Gln患者,均患有混合性轴索性多发性神经病。对患者进行了连续两年的随访以评估疾病进展。还使用PND量表(多发性神经病残疾量表)评估每位患者的运动功能障碍。
在我们的研究中,AL淀粉样变性患者表现为混合性轴索性多发性神经病,63.6%的病例伴有CTS,45.5%伴有心肌病。系列肌电图(EMG)显示腓总神经和胫神经的运动波幅以及腓浅神经的感觉波幅降低,而传导速度大多保持正常。在整个监测期内,患者维持在PND I期。整个hATTR组均表现为混合性轴索性多发性神经病和心肌病;其中85.7%患有CTS,42.9%患有直立性低血压。肌电图数据显示胫神经和腓总神经的运动波幅降低,腓浅神经的感觉波幅降低,传导速度轻度减慢,在12个月和24个月时有显著进展。患者还出现了额外的肌肉力量下降,在研究结束时,一些患者达到了PND 3A期和3B期。
两组中发现的淀粉样变性多发性神经病在轴索性、感觉运动性和长度依赖性特征方面相似,但研究表明其进展存在显著差异,hATTR - Glu54Gln组的变化更为突然。AL淀粉样变性患者维持在PND 1期,而hATTR - Glu54Gln患者在24个月时进展到PND 3期。