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Published on: November 25, 2022
[Familiar Mediterranean fever in Czech Republic]
Abstract:
Familiar Mediterranean fever (FMF) is a well defined autosomal recessive disease occurring mostly in Mediterranean regions. Here we present the experience from one center from Czech Republic, where we follow 4 families with patients with genetically proven FMF. Three out of these 4 families cluster to one limited region in Moravia, in the heart of Europe, without any linkage to Mediterranean origin. Furthermore, majority of these patients are heterozygots presenting with well defined typical clinical symptoms. Potential pseudodominant inheritance and/or epigenetic and environmental factors might influence clinical presentation of the disease.
Insights
Familial Mediterranean fever (FMF), an autosomal recessive disorder, is identified in Czech families without Mediterranean ancestry. Most patients are heterozygotes exhibiting typical FMF symptoms, suggesting complex inheritance patterns.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is a well-defined autosomal recessive autoinflammatory disease.
- FMF predominantly affects populations from Mediterranean regions.
- Genetic mutations in the MEFV gene are the primary cause of FMF.
Observation:
- This study reports on four families with genetically confirmed FMF in the Czech Republic.
- Three of these families are geographically clustered in Moravia, Central Europe.
- Notably, these families lack typical Mediterranean ancestry.
Findings:
- The majority of observed patients are heterozygotes for FMF-associated mutations.
- These heterozygotes present with clinically typical and well-defined FMF symptoms.
- This challenges the traditional understanding of FMF inheritance patterns.
Implications:
- The findings suggest that FMF may occur in non-Mediterranean populations with higher frequency than previously thought.
- Pseudodominant inheritance or other genetic/epigenetic factors may play a role in FMF presentation.
- Further research is needed to explore the broader genetic and environmental influences on FMF pathogenesis.
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