Familial Mediterranean fever in Romania: a case report and literature review
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. W...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1546387/full |
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| author | Alin Iuhas Alin Iuhas Cristian Marinău Cristian Marinău Larisa Niulaș Larisa Niulaș Zsolt Futaki Andreea Balmoș Andreea Balmoș Kinga Kozma Kinga Kozma Mirela Indrieș Mirela Indrieș Cristian Sava Cristian Sava |
| author_facet | Alin Iuhas Alin Iuhas Cristian Marinău Cristian Marinău Larisa Niulaș Larisa Niulaș Zsolt Futaki Andreea Balmoș Andreea Balmoș Kinga Kozma Kinga Kozma Mirela Indrieș Mirela Indrieș Cristian Sava Cristian Sava |
| author_sort | Alin Iuhas |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2d872a93362c4708bb4b6f933da17c04 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-2d872a93362c4708bb4b6f933da17c042025-01-15T06:10:46ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.15463871546387Familial Mediterranean fever in Romania: a case report and literature reviewAlin Iuhas0Alin Iuhas1Cristian Marinău2Cristian Marinău3Larisa Niulaș4Larisa Niulaș5Zsolt Futaki6Andreea Balmoș7Andreea Balmoș8Kinga Kozma9Kinga Kozma10Mirela Indrieș11Mirela Indrieș12Cristian Sava13Cristian Sava14Faculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFaculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaBihor County Clinical Emergency Hospital, Oradea, RomaniaFamilial 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.https://www.frontiersin.org/articles/10.3389/fped.2024.1546387/fullfamilial Mediterranean feverRomaniaautoinflammatory diseaserecurrent feverFMF |
| spellingShingle | Alin Iuhas Alin Iuhas Cristian Marinău Cristian Marinău Larisa Niulaș Larisa Niulaș Zsolt Futaki Andreea Balmoș Andreea Balmoș Kinga Kozma Kinga Kozma Mirela Indrieș Mirela Indrieș Cristian Sava Cristian Sava Familial Mediterranean fever in Romania: a case report and literature review Frontiers in Pediatrics familial Mediterranean fever Romania autoinflammatory disease recurrent fever FMF |
| title | Familial Mediterranean fever in Romania: a case report and literature review |
| title_full | Familial Mediterranean fever in Romania: a case report and literature review |
| title_fullStr | Familial Mediterranean fever in Romania: a case report and literature review |
| title_full_unstemmed | Familial Mediterranean fever in Romania: a case report and literature review |
| title_short | Familial Mediterranean fever in Romania: a case report and literature review |
| title_sort | familial mediterranean fever in romania a case report and literature review |
| topic | familial Mediterranean fever Romania autoinflammatory disease recurrent fever FMF |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1546387/full |
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