Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report

Overview

Journal Int Med Case Rep J

Publisher Dove Medical Press

Date 2025 Jan 10

PMID 39790491

Authors

Hailin Liu

Chao Huang

Yanjiao Du

Jiacheng Liu

Xiangyang Ren

Huilin Wang

Jingna Ye

Haitao Zhou

Zhihui Duan

Affiliations

Soon will be listed here.

Abstract

Introduction: 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.

References

Faria T, Almeida Z, Cruz P, Jesus C, Castanheira P, Brito R . A look into amyloid formation by transthyretin: aggregation pathway and a novel kinetic model. Phys Chem Chem Phys. 2015; 17(11):7255-63. DOI: 10.1039/c4cp04549a. View

Adams D, Suhr O, Hund E, Obici L, Tournev I, Campistol J . First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016; 29 Suppl 1:S14-26. PMC: 4739312. DOI: 10.1097/WCO.0000000000000289. View

Ruberg F, Grogan M, Hanna M, Kelly J, Maurer M . Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019; 73(22):2872-2891. PMC: 6724183. DOI: 10.1016/j.jacc.2019.04.003. View

Dardiotis E, Andreou S, Aloizou A, Panayiotou E, Siokas V, Ioannou M . The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients. Neurol Sci. 2020; 41(5):1163-1170. DOI: 10.1007/s10072-019-04176-9. View

Plante-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D . Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007; 69(7):693-8. DOI: 10.1212/01.wnl.0000267338.45673.f4. View

Benson M, Kincaid J . The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007; 36(4):411-23. DOI: 10.1002/mus.20821. View

Vollmar J, Schmid J, Hoppe-Lotichius M, Barreiros A, Azizi M, Emrich T . Progression of transthyretin (TTR) amyloidosis in donors and recipients after domino liver transplantation-a prospective single-center cohort study. Transpl Int. 2018; 31(11):1207-1215. DOI: 10.1111/tri.13326. View

Yang N, Lee M, Chao C, Chuang Y, Lin W, Chang M . Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology. 2010; 75(6):532-8. DOI: 10.1212/WNL.0b013e3181ec7fda. View

Tojo K, Tsuchiya-Suzuki A, Sekijima Y, Morita H, Sumita N, Ikeda S . Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy. Amyloid. 2010; 17(1):32-5. DOI: 10.3109/13506121003619369. View

10.

Oshima T, Kawahara S, Ueda M, Kawakami Y, Tanaka R, Okazaki T . Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry. 2013; 85(7):740-6. DOI: 10.1136/jnnp-2013-305973. View

11.

Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M . Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care. Ther Clin Risk Manag. 2020; 16:109-123. PMC: 7041433. DOI: 10.2147/TCRM.S219979. View

12.

Bourque P, McCurdy A, Mielniczuk L, Dennie C, Veinot J, Warman Chardon J . Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation. Can J Cardiol. 2017; 33(6):830.e5-830.e7. DOI: 10.1016/j.cjca.2017.01.023. View

13.

Adams D, Ando Y, Beirao J, Coelho T, Gertz M, Gillmore J . Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2020; 268(6):2109-2122. PMC: 8179912. DOI: 10.1007/s00415-019-09688-0. View