Liu Hailin, Huang Chao, Du Yanjiao, Liu Jiacheng, Ren Xiangyang, Wang Huilin, Ye Jingna, Zhou Haitao, Duan Zhihui
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Xinxiang Medical College, Xinxiang, People's Republic of China.
Int Med Case Rep J. 2025 Jan 4;18:1-5. doi: 10.2147/IMCRJ.S486387. eCollection 2025.
Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs. The most common TTR mutation is c.148G>A (p.Val50Met), although the FAP resulting from the mutation rarely involves the spinal cord.
A 68-year-old man was diagnosed with the TTR c.148G>A (p.Val50Met) mutation by ultrasound, pathological, and genetic analyses. He presented with a late-onset, complicated spinal cord injury. The diagnostic process was tortuous, and despite the administration of regular treatment (conventional drugs, cardiac pacemaker, and the specific drug clofenadifen), the patient died.
To confirm TTR-FAP, ultrasound, MRI, pathological, and genetic tests were performed.
The patient ultimately died of heart failure 7.5 years after the initial onset of symptoms.
The patient presented with unusual symptoms of spinal cord injury, and despite a long and arduous diagnostic process and administration of standard treatment for over seven years, the outcome was poor. It is thus recommended that clinicians pay attention to the identification of rare diseases with timely imaging, pathological, and genetic testing, to avoid poor outcomes.
转甲状腺素蛋白相关家族性淀粉样多发性神经病（TTR-FAP）是一种由TTR基因突变引起的常染色体显性遗传病。该疾病主要特征为周围神经和自主神经损伤。疾病进展常累及心脏、肺、肾脏、眼睛和其他器官。最常见的TTR突变是c.148G>A（p.Val50Met），尽管该突变导致的FAP很少累及脊髓。
一名68岁男性经超声、病理和基因分析确诊为TTR基因c.148G>A（p.Val50Met）突变。他出现迟发性、复杂性脊髓损伤。诊断过程曲折，尽管给予常规治疗（传统药物、心脏起搏器和特效药物氯苯吩嗪），患者仍死亡。
为确诊TTR-FAP，进行了超声、MRI、病理和基因检测。
患者最终在症状初发7.5年后死于心力衰竭。
该患者出现不寻常的脊髓损伤症状，尽管诊断过程漫长且艰难，且接受了七年多的标准治疗，但结局不佳。因此，建议临床医生通过及时的影像学、病理学和基因检测关注罕见病的识别，以避免不良结局。
