强直性脊柱炎患者的家族性地中海热:家族性地中海热能否解释典型的八年强直性脊柱炎?

IF 3.2 3区 医学 Q2 RHEUMATOLOGY
Rheumatology International Pub Date : 2024-12-01 Epub Date: 2024-10-22 DOI:10.1007/s00296-024-05736-9
Eleana Bolla, Anastasios Karamanakos, George E Fragoulis, Alexios Iliopoulos
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引用次数: 0

摘要

家族性地中海热(FMF)患者常伴有典型的脊柱关节病(Spondyloarthropathy,SPA)或强直性脊柱炎(ankylosing spondylitis,AS)的肌肉骨骼受累,这给医生的诊断带来了挑战,并导致了对 FMF 相关 SpA/AS 临床谱系的描述。目前,现有数据主要集中于已知 FMF 患者的 SpA 诊断,而相反的情况在医学文献中却鲜有报道。我们描述了一个并发 FMF 诊断的不寻常病例,该患者具有长达八年的典型人类白细胞抗原-B27 阳性 AS 病史,接受过阿达木单抗治疗,表现为反复发热和腹痛。实验室检查发现其血清淀粉样蛋白A滴度较高,而基因检测结果显示MEFV基因的致病性M694V杂合变体呈阳性。患者接受了秋水仙碱的及时治疗,至今临床症状完全缓解,炎症指标恢复正常。我们还对现有文献进行了回顾,详细阐述了 AS 和 FMF 在发病机制和临床特征方面的相互关系。我们的病例强调了报告类似病例的必要性,并进一步探讨了 AS 和 FMF 作为不同临床实体或作为同一疾病连续模型的组成部分之间的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial mediterranean fever in a patient with ankylosing spondylitis: could familial mediterranean fever explain a typical eight-year ankylosing spondylitis?

Patients with familial mediterranean fever (FMF) often present with musculoskeletal involvement typical of spondyloarthropathy (SpA) or ankylosing spondylitis (AS), posing a diagnostic challenge for medical practitioners and leading to the description of the FMF-related SpA/AS clinical spectrum. Currently, the available data focuses on SpA diagnosis in patients with known FMF, while the contrary is rarely reported in the medical literature. We describe an unusual case of concomitant FMF diagnosis in a patient with an eight-year long history of typical, human leukocyte antigen-B27 positive AS on adalimumab treatment, who presented with recurrent febrile attacks and abdominal pain. The laboratory work-up revealed high titres of serum amyloid A while genetic testing was positive for the pathogenic M694V heterozygous variant in the MEFV gene. The patient was promptly treated with colchicine, showing complete remission of clinical symptoms and normalisation of inflammatory markers to date. We also performed a review of the available literature elaborating on the interrelationship of AS and FMF in terms of pathogenesis and clinical characteristics. Our case highlights the need for reporting of similar cases and further explores the association of AS and FMF as distinct clinical entities or as constituents of the same disease continuum model.

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来源期刊
Rheumatology International
Rheumatology International 医学-风湿病学
CiteScore
7.30
自引率
5.00%
发文量
191
审稿时长
16. months
期刊介绍: RHEUMATOLOGY INTERNATIONAL is an independent journal reflecting world-wide progress in the research, diagnosis and treatment of the various rheumatic diseases. It is designed to serve researchers and clinicians in the field of rheumatology. RHEUMATOLOGY INTERNATIONAL will cover all modern trends in clinical research as well as in the management of rheumatic diseases. Special emphasis will be given to public health issues related to rheumatic diseases, applying rheumatology research to clinical practice, epidemiology of rheumatic diseases, diagnostic tests for rheumatic diseases, patient reported outcomes (PROs) in rheumatology and evidence on education of rheumatology. Contributions to these topics will appear in the form of original publications, short communications, editorials, and reviews. "Letters to the editor" will be welcome as an enhancement to discussion. Basic science research, including in vitro or animal studies, is discouraged to submit, as we will only review studies on humans with an epidemological or clinical perspective. Case reports without a proper review of the literatura (Case-based Reviews) will not be published. Every effort will be made to ensure speed of publication while maintaining a high standard of contents and production. Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.
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