Familiar Mediterranean fever
A frequently subdiagnosed affection
Keywords:
FAMILY MEDITERRANEAN FEVERAbstract
Familial Mediterranean Fever (FMF) is an inherited autosomic recessive and inflammatory chronic disease caused by MEFV gene mutation. Symptoms are comprised over recurrent episodes of fever and multisystemic inflammation. Prevalence is higher in Mediterranean population, North Africa, Israel, Turky, Armenia and Arab countries. A case report of an Armenian descent man with characteristic signs and development. Diagnosis, prognosis, treatment and subsequent genetic advise are analyzed.
References
1) Kastner D. Familial Mediterranean fever: the genetics of inflammation. Hosp Pract (Minneap) 1998; 33 (4): 131-4, 139-40, 143-6.
2) Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24(3): 194-8.
3) Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10(2): 145-9.
4) Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27(3): 318-21.
5) Notarnicola C, Didelot MN, Seguret F, Demaille J, Touitou I. Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever. Genes Immun 2002; 3(1): 43-5.
6) Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98(3): 851-9.
7) Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet 2000; 9(20): 3001-9.
8) Eisenberg S, Aksentijevich I, Deng Z, Kastner DL, Matzner Y. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129(7): 539-42.
9) Grateau G, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M. Clinical versus genetic diagnosis of familial Mediterranean fever. Q J M 2000; 93 (4): 223-9.
10) Stewart L, Tolmie J, Galea P, Touitou I. Familial Mediterranean Fever in a cold climate: read The Lancet. Lancet 2000; 356 (9248): 2154.
11) Canzani R, Fischer TM, Álvarez-Martínez J. Fiebre Mediterránea Familiar. Día Méd Urug 1965; XXXII (388): 597-605.
12) Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?. Am J Pharmacogenomics 2004; 4(2): 109-18.
13) Horcada Rubio ML, Delgado Beltran C, Armas Ramírez C. Autoinflammatory disorders: a new concept in hereditary periodic fever syndromes. An Med Interna 2004; 21(3): 143-7.
14) Drenth JP, van-der-Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345 (24): 1748-57.
15) Drenth JP, van Der Meer JW. Periodic fevers enter the era of molecular diagnosis. BMJ 2000; 320: 1091-2.
16) Simon A, Drewe E, van-der-Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75(5): 476-83.
17) Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 1999; 65(4): 1054-9.
18) Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29(3): 301-5.
19) Shohat M. Familial Mediterranean Fever. In: GeneReviews. Medical Genetics Information Resource (database online). Seattle: University of Washington, 2004. Obtenideo de: http://www.genetests.org/query?dz=fmf (consulta 20/7/2005).
2) Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24(3): 194-8.
3) Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10(2): 145-9.
4) Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27(3): 318-21.
5) Notarnicola C, Didelot MN, Seguret F, Demaille J, Touitou I. Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever. Genes Immun 2002; 3(1): 43-5.
6) Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98(3): 851-9.
7) Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet 2000; 9(20): 3001-9.
8) Eisenberg S, Aksentijevich I, Deng Z, Kastner DL, Matzner Y. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129(7): 539-42.
9) Grateau G, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M. Clinical versus genetic diagnosis of familial Mediterranean fever. Q J M 2000; 93 (4): 223-9.
10) Stewart L, Tolmie J, Galea P, Touitou I. Familial Mediterranean Fever in a cold climate: read The Lancet. Lancet 2000; 356 (9248): 2154.
11) Canzani R, Fischer TM, Álvarez-Martínez J. Fiebre Mediterránea Familiar. Día Méd Urug 1965; XXXII (388): 597-605.
12) Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?. Am J Pharmacogenomics 2004; 4(2): 109-18.
13) Horcada Rubio ML, Delgado Beltran C, Armas Ramírez C. Autoinflammatory disorders: a new concept in hereditary periodic fever syndromes. An Med Interna 2004; 21(3): 143-7.
14) Drenth JP, van-der-Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345 (24): 1748-57.
15) Drenth JP, van Der Meer JW. Periodic fevers enter the era of molecular diagnosis. BMJ 2000; 320: 1091-2.
16) Simon A, Drewe E, van-der-Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75(5): 476-83.
17) Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 1999; 65(4): 1054-9.
18) Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29(3): 301-5.
19) Shohat M. Familial Mediterranean Fever. In: GeneReviews. Medical Genetics Information Resource (database online). Seattle: University of Washington, 2004. Obtenideo de: http://www.genetests.org/query?dz=fmf (consulta 20/7/2005).
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Published
2006-09-30
How to Cite
1.
Mañé Garzón F, Raggio V. Familiar Mediterranean fever: A frequently subdiagnosed affection. Rev. Méd. Urug. [Internet]. 2006 Sep. 30 [cited 2024 Nov. 21];22(3):231-5. Available from: https://revista.rmu.org.uy/index.php/rmu/article/view/698
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Clinical Cases
