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病例报告:利妥昔单抗对一名家族性地中海热合并多发性硬化症患者的疗效

Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis.

作者信息

Pozzato Mattia, Micaglio Emanuele, Starvaggi Cucuzza Chiara, Cagol Alessandro, Galimberti Daniela, Calandrella Daniela, Cinnante Claudia, Pappone Carlo, Zanussi Monica, Meola Giovanni, Scarpini Elio, Bresolin Nereo, Martinelli Boneschi Filippo

机构信息

Foundation Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Donato, Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit & MS Centre, Milan, Italy.

Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy.

出版信息

Front Neurol. 2021 Jan 6;11:591395. doi: 10.3389/fneur.2020.591395. eCollection 2020.

Abstract

Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease characterized by recurrent episodes of fever and serositis caused by mutations in the MEFV gene, while Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the CNS with genetic and environmental etiology. The two diseases rarely occur in association with relevant implications for clinical management and drug choice. In this paper, we present the case of a 53-year-old male with an autosomal dominant FMF since childhood who presented acute paresthesia at the right part of the body. He performed a brain and spinal cord MRI, which showed multiple brain lesions and a gd-enhancing lesion in the cervical spinal cord, and then received a diagnosis of MS. He then started Interferonβ-1a which was effective but not tolerated and caused hepatotoxicity, and then shifted to Rituximab with 3-month clinical and neuroradiological efficacy.

摘要

家族性地中海热(FMF)是一种遗传性自身炎症性疾病,其特征为因MEFV基因突变导致反复发热和浆膜炎发作,而多发性硬化症(MS)是一种中枢神经系统的炎症性脱髓鞘疾病,具有遗传和环境病因。这两种疾病很少同时发生,对临床管理和药物选择没有相关影响。在本文中,我们报告了一例53岁男性病例,该患者自幼患有常染色体显性遗传性FMF,出现身体右侧急性感觉异常。他进行了脑部和脊髓MRI检查,结果显示脑部有多个病灶,颈髓有一个钆增强病灶,随后被诊断为MS。他开始使用干扰素β-1a治疗,该药物有效但不耐受并导致肝毒性,随后改用利妥昔单抗,具有3个月的临床和神经放射学疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e9f/7874168/6121a3855398/fneur-11-591395-g0001.jpg

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