Department of Surgical and Perioperative Sciences, Umeå University, Umea, Sweden.
Department of Clinical Microbiology, Umeå University, Umea, Sweden.
Ann Med. 2023;55(2):2239269. doi: 10.1080/07853890.2023.2239269.
In hereditary transthyretin amyloidosis (ATTRv), two different fibrillar forms causing the amyloid deposition, have been identified, displaying substantially cardiac or neuropathic symptoms. Neuropathic symptoms are more frequent in early-onset patients, whereas late-onset patients, besides cardiac symptoms, seem to develop carpal tunnel syndrome, more often. With ultrasonography (US) of peripheral nerves, it is possible to distinguish structural changes, and enlarged cross-sectional area (CSA). The main purpose of this study was, for the first time, to elucidate US of peripheral nerves in Swedish ATTRv patients at an early stage of the disease, and to evaluate possible early enlarged CSA.
This prospective study included first visit data of 13 patients, aged 30-88 years, of which 11 with late-onset age. All had a positive V30M mutation. Eight men and six women (aged 28-74 years) served as controls.
Significantly enlarged CSA was seen in ATTRv patients for the tibial nerve at the ankle ( .001), the sural nerve ( .001), the peroneal nerve at the popliteal fossa ( .003), and the ulnar nerve at the middle upper arm ( .007).
US of peripheral nerves could be a valuable tool in disease evaluation and could facilitate monitoring of disease progression.
遗传性转甲状腺素淀粉样变性（ATTRv）中，已经鉴定出两种不同的纤维形式导致淀粉样沉积，表现出明显的心脏或神经病变症状。神经病变症状在早发患者中更为常见，而晚发患者除了心脏症状外，似乎更常发生腕管综合征。通过周围神经超声（US）可以区分结构变化和横截面积（CSA）的增大。本研究的主要目的是首次阐明瑞典 ATTRv 患者在疾病早期的周围神经 US，并评估可能的早期 CSA 增大。
这项前瞻性研究纳入了 13 名年龄在 30-88 岁的患者的首次就诊数据，其中 11 名患者为晚发年龄。所有患者均携带 V30M 突变阳性。8 名男性和 6 名女性（年龄 28-74 岁）作为对照组。
与对照组相比，ATTRv 患者的踝部胫神经（ .001）、腓肠神经（ .001）、腘窝处腓总神经（ .003）和中上臂处尺神经（ .007）的 CSA 明显增大。
周围神经超声可能是疾病评估的一种有价值的工具，并有助于监测疾病进展。
