International Medical Case Reports Journal (Jan 2025)
Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report
Abstract
Hailin Liu,1,* Chao Huang,1,* Yanjiao Du,1 Jiacheng Liu,1,2 Xiangyang Ren,1 Huilin Wang,1 Jingna Ye,1 Haitao Zhou,1 Zhihui Duan1 1Department 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; 2Xinxiang Medical College, Xinxiang, People’s Republic of China*These authors contributed equally to this workCorrespondence: Zhihui Duan, 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, Xigong District, Luoyang, Henan, 471000, People’s Republic of China, Tel/Fax +0086-0379-63892044, Email [email protected]: 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.Patient Concerns: 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.Interventions: To confirm TTR-FAP, ultrasound, MRI, pathological, and genetic tests were performed.Outcomes: The patient ultimately died of heart failure 7.5 years after the initial onset of symptoms.Conclusion: 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.Keywords: transthyretin familial amyloid polyneuropathy, myelopathy, case
