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Familial Mediterranean Fever
1Department of Pediatrics, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan. hatem@just.edu.jo
Abstract:
Familial Mediterranean Fever is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks that differ in quality across patients and even within the same patient. There may be accompanying joint pain, chest pain, skin manifestations and other findings, and amyloidosis may occur in some patients as a complication. The primary treatment is Colchicine, which decreases the frequency of the attacks and prevents the occurrence of amyloidosis. The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The spectrum of mutations in the Arabic population is partially studied. There are still several issues to be solved before we fully understand the disorder, and to enable us to confront it and decrease the morbidity and mortality inflicted by it.
Insights
Familial Mediterranean Fever (FMF) is a genetic disorder impacting Arabs, Jews, Armenians, and Turks. Colchicine treatment and understanding MEFV gene mutations are key to managing FMF attacks and preventing amyloidosis.
Area of Science:
- Genetics
- Immunology
- Internal Medicine
Background:
- Familial Mediterranean Fever (FMF) is a prevalent genetic autoinflammatory disorder.
- It frequently affects Arab, Jewish, Armenian, and Turkish populations.
- Clinical manifestations include febrile attacks, pain, and potential complications like amyloidosis.
Purpose of the Study:
- To summarize the current understanding of FMF.
- To highlight the role of the MEFV gene and its mutations.
- To emphasize the need for further research, particularly in the Arabic population.
Main Methods:
- Review of existing literature on FMF.
- Genetic analysis of the MEFV gene.
- Clinical case studies and epidemiological data.
Main Results:
- The MEFV gene encodes a protein involved in inflammation regulation.
- Colchicine is the primary treatment, reducing attack frequency and preventing amyloidosis.
- The spectrum of MEFV mutations in Arabic populations requires further investigation.
Conclusions:
- Understanding FMF genetics and mutation spectrum is crucial for effective management.
- Further research is needed to fully elucidate FMF pathogenesis and improve patient outcomes.
- Targeted therapies and comprehensive genetic screening can reduce FMF-related morbidity and mortality.
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