Department of Neurology University Medical Center of the Johannes Gutenberg University Mainz Mainz Germany.
German Association for Liver Transplantation Mainz Germany.
Brain Behav. 2017 Dec 19;8(1):e00889. doi: 10.1002/brb3.889. eCollection 2018 Jan.
Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators.
Twenty-four patients with TTR-FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross-sectional design. Both groups were matched for gender and presence of pain. Quantitative sensory testing (QST), sympathetic skin response (SSR), heart rate variability (HRV), and nerve conduction studies (NCV) were performed. Both groups were compared using univariate analysis. In a stepwise discriminant analysis, discriminators between both neuropathies were identified. These discriminators were validated comparing TTR-FAP patients with a cohort of patients with chemotherapy-induced polyneuropathy (CIN) and chronic inflammatory demyelinating neuropathy (CIDP).
TTR-FAP patients scored higher in NDS and NIS and had impaired cold detection (CDT, = .024), cold-warm discrimination (TSL, = .019) and mechanical hyperalgesia (MPT, = .029) at the hands, SSR (upper limb, = .022) HRV and ulnar and sural NCS (all < .05) were more affected in TTR-FAP. Ulnar nerve sensory NCV, CDT, and the MPT but not the other parameters discriminated TTR-FAP from dPNP (82% of cases), from CIN (86.7%) and from CIDP (68%; only ulnar sNCV).
Low ulnar SNCV, impaired cold perception, and mechanical hyperalgesia at the hands seem to characterize TTR-FAP and might help to differentiate from other polyneuropathies.
家族性转甲状腺素蛋白淀粉样变性是一种危及生命的疾病，表现为感觉运动和自主多发性神经病。延迟诊断对治疗和预后有不利影响。为了便于诊断，我们分析了转甲状腺素蛋白家族性淀粉样多神经病（TTR-FAP）患者的数据模式，并将其与不同病因的多发性神经病进行比较，以确定临床和电生理鉴别诊断。
在横断面设计中，对 24 例 TTR-FAP 患者和 48 例糖尿病性多发性神经病（dPNP）患者进行了调查（神经损伤评分 NIS；神经功能障碍评分 NDS）。两组患者的性别和疼痛存在情况相匹配。进行了定量感觉测试（QST）、交感皮肤反应（SSR）、心率变异性（HRV）和神经传导研究（NCV）。使用单变量分析比较两组。在逐步判别分析中，确定了两种神经病之间的鉴别因素。通过比较 TTR-FAP 患者与化疗诱导的多发性神经病（CIN）和慢性炎症性脱髓鞘性神经病（CIDP）患者的队列，验证了这些鉴别因素。
TTR-FAP 患者的 NDS 和 NIS 评分较高，手部冷觉检测（CDT， = 0.024）、冷温觉辨别（TSL， = 0.019）和机械性痛觉过敏（MPT， = 0.029）受损，SSR（上肢， = 0.022）、HRV 和尺神经和腓肠神经的 NCV（均 < 0.05）在 TTR-FAP 中受影响更严重。尺神经感觉 NCV、CDT 和 MPT 但不是其他参数可将 TTR-FAP 与 dPNP（82%的病例）、CIN（86.7%）和 CIDP（68%；仅尺神经 sNCV）区分开来。
低尺神经 SNCV、手部冷觉感知受损和机械性痛觉过敏似乎是 TTR-FAP 的特征，可能有助于与其他多发性神经病区分。
