Familial Mediterranean Fever (FMF), also known as an autoinflammatory syndrome, is the most frequent periodic fever syndrome, affecting not only eastern Mediterranean people such as non-Ashkenazi Jews, Armenians, Arabs, and Turks but also reported throughout the world’s populations.
Genetics/Basic Defects
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An autosomal recessive disorder caused by missense mutations in the MEFV gene, located on the short arm of chromosome 16 (16p13.3). The MEFV gene is responsible for encoding a protein called pyrin or marenostrin.
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Pathogenesis
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Partially elucidated only after the identification of pyrin or marenostrin
- b.
A new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF.
- a.
- 3.
Phenotype expression of the FMF should depend on the presence of a homozygote or heterozygote genotype for the MEFV gene mutations.
- 4.
Genotype-phenotype correlation, however, is complex due to influence of genotype...
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References
Borman, P., Gokoglu, F., Tasbas, O., et al. (2009). Familial Mediterranean fever-related spondyloarthropathy. Singapore Medical Journal, 50, e116.
Erken, E., Ozer, H. T., Bozkurt, B., et al. (2008). Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion. Joint, Bone, Spine, 75, 370–372.
Fonnesu, C., Cerquaglia, C., Giovinale, M., et al. (2009). Familial Mediterranean fever: A review for clinical management [review]. Joint, Bone, Spine, 76, 227–233.
Guz, G., Kanbay, M., & Ozturk, M. A. (2009). Current perspectives on familial Mediterranean fever. Current Opinion in Infectious Diseases, 22, 309–315.
Kallinich, T., Haffner, D., Niehues, T., et al. (2007). Colchicine use in children and adolescents with familial Mediterranean fever: Literature review and consensus statement. Pediatrics, 119, e474–e483.
Koné Paut, I., Dubuc, M., Sportouch, J., et al. (2000). Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology (Oxford, England), 39, 1275–1279.
Langevitz, P., Livneh, A., Padeh, S., et al. (1999). Familial Mediterranean fever: New aspects and prospects at the end of the millennium. The Israel Medical Association Journal, 1, 31–36.
Lidar, M., & Livneh, A. (2007). Familial Mediterranean fever: Clinical, molecular and management advancements [review]. Journal of Medicine, 65, 318–324.
Lidar, M., Scherrmann, J. M., Shinar, Y., et al. (2004). Colchicine nonresponsiveness in familial Mediterranean fever: Clinical, genetic, pharmacokinetic, and socioeconomic characterization. Seminars in Arthritis and Rheumatism, 33, 273–282.
Livneh, A., & Langevitz, P. (2000). Diagnostic and treatment concerns in familial Mediterranean fever. Baillière’s Best Practice & Research. Clinical Rheumatology, 14, 4774–4798.
Livneh, A., Langevitz, P., Zemer, D., et al. (1997). Criteria for the diagnosis of familial Mediterranean fever. Arthritis and Rheumatism, 40, 1879–1885.
Ozel, A. M., Demirturk, L., Yazgan, Y., et al. (2000). Familial Mediterranean fever. A review of the disease and clinical and laboratory findings in 105 patients. Digestive and Liver Disease, 32, 504–509.
Ozen, S. (2003). Familial Mediterranean fever: Revisiting an ancient disease [review]. European Journal of Pediatrics, 162, 449–454.
Papadopoulos, V. P., Giaglis, S., Mitroulis, I., et al. (2008). The population genetics of familial Mediterranean fever. A meta-analysis study. Annals of Human Genetics, 72, 752–761.
Pras, M. (1998). Familial Mediterranean fever: From the clinical syndrome to the cloning of the pyrin gene. Scandinavian Journal of Rheumatology, 27, 92–97.
Pras, M. (2002). Familial Mediterranean fever: Past, present and future. Clinical and Experimental Rheumatology, 20(Suppl. 26), s66.
Shohat, M., Magal, N., Shohat, T., et al. (1999). Phenotype-genotype correlation in familial Mediterranean fever: Evidence for an association between Met694Val and amyloidosis. European Journal of Human Genetics, 7, 287–292.
Shohat, M., Tikva, P., & Halpern, G. J. (2009). Familial Mediterranean fever. GeneReviews. Updated April 30, 2009. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1227/
Tunca, M., Akar, S., Soyturk, M., et al. (2004). The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: A double-blind, placebo controlled trial. Clinical and Experimental Rheumatology, 22(4 Suppl. 34), S37–S40.
Tweezer-Zaks, N., Rabinovich, E., Lidar, M., & Livneh, A. (2008). Interferon-alpha as a treatment modality for colchicine-resistant familial Mediterranean fever. Journal of Rheumatology, 35, 1362–1365.
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(2012). Familial Mediterranean Fever. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_87
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_87
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