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Persistent Fever as the Solitary Manifestation of Familial Mediterranean Fever: A Case Report
Rayan Zaydan1, Mais Alsadi1, Khurshid Khan2
1Medicine, University of Sharjah, Sharjah, ARE.
Abstract:
Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder characterized by prolonged periods of fever and serosal inflammation such as peritonitis, pleuritis, and arthritis. FMF is due to a mutation of the MEFV gene encoding pyrin. Although this disorder typically presents in early childhood with recurrent episodes that are self-limiting, atypical and long-lasting febrile episodes may cause significant diagnostic challenges, especially in regions where genetic testing for FMF is not easily available. In this study, we report a case of a four-year-old Syrian girl who presented with persistent fever unresponsive to antipyretics lasting for one month. With the high clinical suspicion, colchicine therapy was initiated, resulting in clinical improvement. This case illustrates the importance of maintaining clinical suspicion of FMF in the pediatric population presenting with persistent fever of unknown origin, and sheds light on the role of colchicine as a therapeutic and diagnostic medication when genetic testing is unavailable.
Insights
Familial Mediterranean fever (FMF) is a genetic disorder causing recurrent fevers. Early colchicine treatment is crucial for diagnosis and management, especially when genetic testing is inaccessible.
Area of Science:
- Pediatrics
- Genetics
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder.
- It is characterized by recurrent fever and serosal inflammation due to MEFV gene mutations.
- Atypical FMF presentations can pose diagnostic challenges, particularly where genetic testing is limited.
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