Neues zum familiären Mittelmeerfieber

Zusammenfassung

Das Wissen über die Pathophysiologie, Diagnostik und Therapie des familiären Mittelmeerfieber nahm in den vergangenen Jahren rasch zu. Diese Übersichtsarbeit fasst den Erkenntnisgewinn der letzten zwei Jahre zusammen und zieht die entsprechenden Rückschlüsse für das Management der Erkrankung.

Summary

In the last years new insights on the pathophysiology, diagnostic and therapy of familian Mediterranean fever arose. This review summarize these new aspects and discuss their impact on the current management of the disease.

Schlüsselwörter

Familiäres Mittelmeerfieber - Amyloidose - Colchizin

Keywords

Familial Mediterranean fever - amyloidosis - colchicine

• Literatur

• 1 Blank N, Max R. Das familiäre Mittelmeerfieber und andere hereditäre Fiebersyndrome. arthritis + rheuma 2013; 33 (04) 223-228.
• 2 Sohar E. et al. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43: 227-253.
• 3 Touitou I. et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007 56. 1706-1712 doi:
• 4 Giese A. et al. Quality of life in adult patients with Familial Mediterranean fever living in Germany or Turkey compared to healthy subjects: a study evaluating the effect of disease severity and country of residence. Rheumatol Int. 2013 33. 1713-1719 doi:
• 5 Ebrahimi-Fakhari D. et al. Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Scand J Rheumatol. 2013 42. 52-58 doi:
• 6 Padeh S. et al. Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr. 2010 156. 985-989 doi:
• 7 Padeh S. et al. Familial Mediterranean fever in children presenting with attacks of fever alone. J Rheumatol. 2010 37. 865-869 doi:
• 8 Hentgen V. et al. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children?. Arthritis Rheum. 2013 65. 1654-1662 doi:
• 9 Ozen S. et al. Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis. 2013 doi:
• 10 Twig G. et al. Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. Ann Rheum Dis. 2013 doi:
• 11 Akar S. et al. Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era. Medicine (Baltimore). 2012 91. 131-136 doi:
• 12 Chae JJ. et al. Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice. Immunity. 2011 34. 755-768 doi:
• 13 Hesker PR. et al. Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1beta levels. PLoS One. 2012 7. e51105 doi:
• 14 Omenetti A. et al. Increased NLRP3-dependent interleukin 1beta secretion in patients with familial Mediterranean fever: correlation with MEFV genotype. Ann Rheum Dis. 2013 doi:
• 15 http://fmf.igh.cnrs.fr/ISSAID/infevers/
• 16 Booty MG. et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit?. Arthritis Rheum. 2009 60. 1851-1861 doi:
• 17 Marek-Yagel D. et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009 60. 1862-1866 doi:
• 18 Stoffels M. et al. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. Ann Rheum Dis. 2013 doi:
• 19 Jeru I. et al. The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach. PLoS One. 2013 8. e68431 doi:
• 20 Camus D. et al. ’Silent’ carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clin Genet. 2012 82. 288-291 doi:
• 21 Altunoglu A. et al. Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF. Ren Fail. 2013 35. 226-230 doi:
• 22 Migita K. et al. The contribution of SAA1 polymorphisms to Familial Mediterranean fever susceptibility in the Japanese population. PLoS One. 2013 8. e55227 doi:
• 23 Berkun Y. et al. NOD2/CARD15 gene mutations in patients with familial Mediterranean fever. Semin Arthritis Rheum. 2012 42. 84-88 doi:
• 24 Ahsen A. et al. As a New Inflammatory Marker for Familial Mediterranean Fever: Neutrophil-to-Lymphocyte Ratio. Inflammation. 2013 doi:
• 25 Sahin S. et al. Does mean platelet volume influence the attack or attack-free period in the patients with Familial Mediterranean fever?. Platelets. 2013 24. 320-323 doi:
• 26 Limper M. et al. The diagnostic role of procalcitonin and other biomarkers in discriminating infectious from non-infectious fever. J Infect. 2010 60. 409-416 doi:
• 27 Yuksel S. et al. The value of procalcitonin measurements in children with familial Mediterranean fever. Rheumatol Int. 2012 32. 3443-3447 doi:
• 28 http://campus.uni-muenster.de/fileadmin/einrichtung/immunologie/AID-Net.htm
• 29 Terkeltaub RA. Colchicine update: 2008. Semin Arthritis Rheum. 2009 38. 411-419 doi:
• 30 Cronstein BN. et al. Colchicine alters the quantitative and qualitative display of selectins on endothelial cells and neutrophils. J Clin Invest. 1995 96. 994-1002 doi:
• 31 Paschke S. et al. Technical Advance: Inhibition of neutrophil chemotaxis by colchicine is modulated through viscoelastic properties of subcellular compartments. J Leukoc Biol. 2013 doi:
• 32 Marques-da-Silva C. et al. Colchicine inhibits cationic dye uptake induced by ATP in P2X2 and P2X7 receptor-expressing cells: implications for its therapeutic action. Br J Pharmacol. 2011 163. 912-926 doi:
• 33 Kallinich T. et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics. 2007 119. e474-e483 doi:
• 34 Berkun Y. et al. Pharmacokinetics of colchicine in pediatric and adult patients with familial Mediterranean fever. Int J Immunopathol Pharmacol 2012; 25: 1121-1130.
• 35 Hentgen V. et al. Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Semin Arthritis Rheum. 2013 doi:
• 36 Padeh S. et al. Colchicine is a safe drug in children with familial Mediterranean fever. J Pediatr. 2012 161. 1142-1146 doi:
• 37 Shohat M. et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet. 1999 7. 287-292 doi:
• 38 Shinar Y. et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000; 27: 1703-1707.
• 39 Gershoni-Baruch R. et al. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 48. 1149-1155 doi:
• 40 Lidar M. et al. Incomplete response to colchicine in M694V homozygote FMF patients. Autoimmun Rev. 2012 12. 72-76 doi:
• 41 Grattagliano I. et al. Novel Therapeutics for the Treatment of Familial Mediterranean Fever. Clin Pharmacol Ther. 2013 doi:
• 42 Hashkes PJ. et al. Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. Ann Intern Med. 2012 157. 533-541 doi:
• 43 Franchi L, Nunez G. A new twist on the PYRIN Mediterranean coast. Immunity. 2011 34. 695-697 doi: