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Familial Mediterranean fever presenting as fever of unknown origin in Korea
Jun Hee Lee1, Jong Hyun Kim1, Jung Ok Shim1
1Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
Abstract:
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient's symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.
Insights
Familial Mediterranean fever (FMF), an autoinflammatory disease, can occur in diverse populations. This case highlights FMF in Korea, emphasizing colchicine
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is the most prevalent Mendelian autoinflammatory disorder.
- It stems from MEFV gene mutations, leading to pyrin protein dysfunction and innate immune system overactivation.
- While common in Mediterranean and Middle Eastern populations, FMF is increasingly recognized globally, including Korea.
Purpose of the Study:
- To report a novel case of FMF in a Korean patient presenting with prolonged fever without polyserositis.
- To analyze the patient's genotype and compare it with international FMF cohorts.
- To inform optimal MEFV exon screening strategies for FMF diagnosis in Korea.
Main Methods:
- Clinical case presentation and diagnostic workup.
- Genetic analysis of the MEFV gene.
- Comparative genotype analysis with global FMF databases.
Main Results:
- A Korean patient presented with a month-long fever, atypical for FMF due to the absence of serositis.
- Prompt symptom resolution occurred following colchicine treatment, aiding diagnosis.
- Genotype comparison with international data provides insights into Korean FMF genetic variations.
Conclusions:
- FMF should be considered in Korean patients with prolonged fever, even without typical serositis.
- Colchicine response is a crucial diagnostic indicator for FMF.
- Understanding regional genetic variations in MEFV is vital for accurate FMF screening and diagnosis in diverse populations.
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