Huang Linhuan, Zhou Houshi, Chen Junling, Fang Ting, Lin Qi
Department of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China.
BMC Neurol. 2025 Oct 17;25(1):430. doi: 10.1186/s12883-025-04392-1.
Transthyretin amyloidosis (ATTRv) presents with highly variable, multisystem phenotypes, complicating diagnosis.
We describe a diagnostically challenging case of ATTRv caused by the rare Glu89Lys (p. Glu109Lys) variant in an East Asian female-the first reported instance in this ethnic group. The patient exhibited a complex multisystem phenotype spanning progressive axonal sensorimotor polyneuropathy with autonomic dysfunction, cerebral infarction, hypertrophic cardiomyopathy, vitreous opacities, and unexplained cachexia, culminating in a 4-year diagnostic odyssey. The lack of clinical suspicion delayed definitive diagnosis, ultimately achieved through combined tissue biopsy confirming amyloid deposits and targeted genetic sequencing confirming Glu89Lys variant.
Our findings highlight the imperative for heightened clinical vigilance and early utilization of multimodal diagnostic strategies in suspected ATTRv cases.
转甲状腺素蛋白淀粉样变性（ATTRv）具有高度可变的多系统表型，使诊断变得复杂。
我们描述了一例具有诊断挑战性的ATTRv病例，该病例由罕见的Glu89Lys（p.Glu109Lys）变异引起，患者为一名东亚女性，这是该种族群体中首次报告的病例。患者表现出复杂的多系统表型，包括伴有自主神经功能障碍的进行性轴索性感觉运动性多神经病、脑梗死、肥厚型心肌病、玻璃体混浊和不明原因的恶病质，最终经历了4年的诊断历程。临床怀疑的缺乏延迟了明确诊断，最终通过联合组织活检证实淀粉样沉积物以及靶向基因测序证实Glu89Lys变异得以实现。
我们的研究结果强调了在疑似ATTRv病例中提高临床警惕性和早期采用多模式诊断策略的必要性。
