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MINI REVIEW article

Front. Pediatr.
Sec. Pediatric Rheumatology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1546387

Familial Mediterranean Fever in Romania: a case report and literature review

Provisionally accepted
Alin Remus Iuhas Alin Remus Iuhas 1,2Cristian Phillip Marinau Cristian Phillip Marinau 1,2Larisa Roxana Niulas Larisa Roxana Niulas 1,2*Zsolt Levente Futaki Zsolt Levente Futaki 2Andreea Balmos Andreea Balmos 1,2Kinga Kozma Kinga Kozma 2,3Mirela Florica Indrieș Mirela Florica Indrieș 2,3CRISTIAN SAVA CRISTIAN SAVA 1,2
  • 1 Department of Medical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania
  • 2 Emergency County Clinical Hospital of Oradea, Oradea, Romania
  • 3 University of Oradea, Oradea, Romania

The final, formatted version of the article will be published soon.

    Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers. Genetic testing confirmed a homozygous MEFV c.2082G>A (p.Met694Ile) variant. Colchicine therapy reduced flare frequency and normalized inflammatory markers. FMF should be considered in atypical populations with recurrent inflammation. Genetic testing aids diagnosis in non-endemic regions, enabling early colchicine treatment to prevent complications.

    Keywords: Familial Mediterranean Fever, Romania, autoinflammatory disease, Recurrent fever, FMF

    Received: 16 Dec 2024; Accepted: 31 Dec 2024.

    Copyright: © 2024 Iuhas, Marinau, Niulas, Futaki, Balmos, Kozma, Indrieș and SAVA. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Larisa Roxana Niulas, Emergency County Clinical Hospital of Oradea, Oradea, 410167, Romania

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