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Familial coexistence of demyelinating diseases and familial Mediterranean fever

  • Case Based Review
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Abstract

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. Gain of the function mutations of the pyrin gene lead to stimulation of pro-inflammatory cytokines. Persistent pro-inflammatory situation in the course of FMF may play a role in the development of some other inflammatory diseases such as Behcet’s disease, psoriasis, and vasculitis. Multiple sclerosis (MS), as a demyelinating disorder, is also more commonly seen in FMF patients compared to the general population. There are scarcely any research reporting that these two diseases coexist in more than one person in the same family. We have discovered cases of FMF and demyelinating disorders in five members of two different families. Besides the two families we are reporting, there are only four other families reported so far. Having combined the data of all these six families, we present a case-based review in this study. We aimed to draw attention of physicians to familial co-occurence of FMF and demyelinating disorders and also to discuss possible mechanisms of the coexistence of these two diseases in light of the literature.

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Authors and Affiliations

  1. Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey

    Cengiz Korkmaz & Döndü Üsküdar Cansu

  2. Department of Neurology, Kütahya Health Science University, Kütahya, Turkey

    Sibel Canbaz Kabay

Authors
  1. Cengiz Korkmaz
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  2. Döndü Üsküdar Cansu
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  3. Sibel Canbaz Kabay
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Contributions

Study Concepts and design: CK, DUC, SCK; analysis and interpretation of data: CK, DUC, SCK; drafting of the manuscript: CK, DUC, SCK; critically revision of the manuscript for important intellectual content: CK, DUC, SCK; final approval of the version to be published: CK, DUC, SCK.

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Correspondence to Cengiz Korkmaz.

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Korkmaz, C., Üsküdar Cansu, D. & Kabay, S.C. Familial coexistence of demyelinating diseases and familial Mediterranean fever. Rheumatol Int 42, 167–173 (2022). https://doi.org/10.1007/s00296-021-04821-7

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  • DOI: https://doi.org/10.1007/s00296-021-04821-7

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