Vnitr Lek 2014, 60(1):30-37

Familial Mediterranean Fever - clinical picture, diagnosis and treatment

Tomáš Dallos*, Denisa Ilenčíková, László Kovács
II. detská klinika LF UK a DFNsP, Bratislava, Slovenská republika, prednosta prof. MUDr. László Kovács, DrSc., MPH

Familial mediterranean fever (FMF) is the most prevalent genetically determined autoinflammatory disease. FMF significantly decreases the quality of life and limits life expectancy due to the development of amyloidosis in affected individuals. Prevalence of FMF is highest in the south-eastern Mediterraneans. In other parts of the world, its occurance is often restricted to high-risk ethnic goups. In Central Europe, experience with FMF is scarse. As for Slovakia, we have reported the first cases of FMF in ethnic Slovaks only recently. Along with their complicated fates, this has lead us to compile a comprehensive overview of the clinical picture, diagnosis and treatment of this elusive disease. Hereby we hope to be able to promote the awareness about this disease and possibly aid the diagnosis in new patients.

Keywords: familial mediterranean fever; amyloidosis; colchicin; overview of the clinical picture

Received: May 7, 2013; Accepted: September 3, 2013; Published: January 1, 2014  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Dallos T, Ilenčíková D, Kovács L. Familial Mediterranean Fever - clinical picture, diagnosis and treatment. Vnitr Lek. 2014;60(1):30-37.
Download citation

References

  1. Dinarello CA. Interleukin-1beta and the autoinflammatory diseases. N Engl J Med 2009; 360(23): 2467-2470. Go to original source... Go to PubMed...
  2. Janeway TC, Mosenthal HO. Unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans Assoc Am Physicians 1908; 23: 504-518. Go to original source...
  3. Siegal S. Benign paroxysmal peritonitis. Ann Intern Med 1945; 23: 1-22. Go to original source...
  4. Siegal S. Familial paroxysmal polyserositis: analysis of fifty cases. Am J Med 1964; 36: 893-918. Go to original source... Go to PubMed...
  5. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17(1): 25-31. Go to original source... Go to PubMed...
  6. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90(4): 797-807. Go to original source... Go to PubMed...
  7. Toplak N, Doležalová P, Constantin T et al. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J 2010; 8: 29. Go to original source... Go to PubMed...
  8. Dallos T, Lukáčiková Gálová L, Macejková E et al. Familiárna stredomorská horúčka - prvé skúsenosti na Slovensku. Vnitř Lék 2014; XXX: 60(1): 80-85.
  9. Buskila D, Zaks N, Neumann L et al. Quality of life of patients with familial Mediterranean fever. Clin Exp Rheumatol 1997; 15(4): 355-360. Go to PubMed...
  10. Booth DR, Gillmore JD, Lachmann HJ et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000; 93(4): 217-221. Go to original source... Go to PubMed...
  11. Sood R, Blake T, Aksentijevich I et al. Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p13.3. Genomics 1997; 42(1): 83-95. Go to original source... Go to PubMed...
  12. Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103(26): 9982-9987. Go to original source... Go to PubMed...
  13. Aksentijevich I, Torosyan Y, Samuels J et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999; 64(4): 949-962. Go to original source... Go to PubMed...
  14. Sohar E, Gafni J, Pras M et al. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med1967; 43(2): 227-253. Go to original source... Go to PubMed...
  15. Padeh S, Livneh A, Pras E et al. Familial Mediterranean fever in children presenting with attacks of fever alone. J Rheumatol 2010; 37(4): 865-869. Go to original source... Go to PubMed...
  16. Padeh S, Livneh A, Pras E et al. Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr 2010; 156(6): 985-989. Go to original source... Go to PubMed...
  17. Samli H, Içduygu FM, Ozgöz A et al. Surgery for acute abdomen and MEFV mutations in patients with FMF. Acta Reumatol Port 2009; 34(3): 520-524. Go to PubMed...
  18. Brik R, Shinawi M, Kasinetz L et al. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 2001; 44(6): 1416-1419. Go to original source...
  19. Heller H, Gafni J, Michaeli D et al. The arthritis of familial Mediterranean fever (FMF). Arthritis Rheum 1966; 9(1): 1-17. Go to original source... Go to PubMed...
  20. Kees S, Langevitz P, Zemer D et al. Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF). QJM 1997; 90(10): 643-647. Go to original source... Go to PubMed...
  21. Majeed HA, Quabazard Z, Hijazi Z et al. The cutaneous manifestations in children with familial Mediterranean fever (recurrent hereditary polyserositis). A six-year study. Q J Med 1990; 75(278): 607-616.
  22. Senel K, Melikoglu MA, Baykal T et al. Protracted febrile myalgia syndrome in familial Mediterranean fever. Mod Rheumatol 2010; 20(4): 410-412. Go to original source... Go to PubMed...
  23. Lachmann HJ, Sengül B, Yavuzşen TU et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45(6): 746-750. Go to original source... Go to PubMed...
  24. Akar S, Soyturk M, Onen F et al. The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients. Rheumatol Int 2006; 26(7): 676-679. Go to original source... Go to PubMed...
  25. Lidar M, Yaqubov M, Zaks N et al. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol 2006; 33(6): 1089-1092. Go to PubMed...
  26. Gafni J, Ravid M, Sohar E. The role of amyloidosis in familial mediterranean fever. A population study. Isr J Med Sci 1968; 4(5): 995-999.
  27. Livneh A, Langevitz P, Zemer D et al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum 1996; 26(3): 612-627. Go to original source... Go to PubMed...
  28. Gershoni-Baruch R, Brik R, Lidar M et al. Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. J Rheumatol 2003; 30(2): 308-312. Go to PubMed...
  29. Cazeneuve C, Sarkisian T, Pêcheux C et al. MEFV-Gene analysis in Armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999; 65(1): 88-97. Go to original source... Go to PubMed...
  30. Cazeneuve C, Ajrapetyan H, Papin S et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67(5): 1136-1143. Go to original source... Go to PubMed...
  31. Ozçakar ZB, Yalçinkaya F. Vascular comorbidities in familial Mediterranean fever. Rheumatol Int 2011; 31(10): 1275-1281. Go to original source... Go to PubMed...
  32. Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol 2004; 22(4 Suppl 34): 75-78.
  33. Fidder HH, Chowers Y, Lidar M et al. Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 2002; 81(6): 411-416. Go to original source... Go to PubMed...
  34. Livneh A, Langevitz P, Zemer D et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40(10): 1879-1885. Go to original source... Go to PubMed...
  35. Yalçinkaya F, Ozen S, Ozçakar ZB et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009; 48(4): 395-398. Go to original source... Go to PubMed...
  36. Kondi A, Hentgen V, Piram M et al. Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology (Oxford) 2010; 49(11): 2200-2203. Go to original source... Go to PubMed...
  37. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001; 9(7): 473-483. Go to original source... Go to PubMed...
  38. Marek-Yagel D, Berkun Y, Padeh S et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum 2009; 60(6): 1862-1866. Go to original source... Go to PubMed...
  39. Caglayan AO, DemiryilmazF, Ozyazgan I et al. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. Nephrol Dial Transplant 2010; 25(8): 2520-2523. Go to original source... Go to PubMed...
  40. Ozen S, Aktay N, Lainka E et al. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis 2009; 68(2): 246-248. Go to original source... Go to PubMed...
  41. Ter Haar N, Lachmann H, Ozen S et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013; 72(5): 678-685. Go to original source... Go to PubMed...
  42. Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med 1972; 287(25): 1302. Go to original source... Go to PubMed...
  43. Zemer D, Pras M, Sohar E et al. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986; 314(16): 1001-1005. Go to original source... Go to PubMed...
  44. Ozçakar ZB, Yalçinkaya F, Yüksel S et al. Possible effect of subclinical inflammation on daily life in familial Mediterranean fever. Clin Rheumatol 2006; 25(2): 149-152. Go to original source... Go to PubMed...
  45. Tatsuta E, Sipe JD, Shirahama T et al. Colchicine inhibition of serum amyloid protein SAA and SAP synthesis in primary mouse liver cell cultures. Arthritis Rheum 1984; 27(3): 349-352. Go to original source... Go to PubMed...
  46. Livneh A, Zemer D, Langevitz P et al. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Arthritis Rheum 1994; 37(12): 1804-1811. Go to original source... Go to PubMed...
  47. Ben-Chetrit E, Scherrmann JM, Levy M. Colchicine in breast milk of patients with familial Mediterranean fever. Arthritis Rheum 1996; 39(7): 1213-1217. Go to original source... Go to PubMed...
  48. Savgan-Gürol E, Kasapçopur O, Hatemi S et al. Growth and IGF-1 levels of children with familial Mediterranean fever on colchicine treatment. Clin Exp Rheumatol 2001; 19: (5 Suppl 24): 72-75.
  49. Ozçakar ZB, Kadioğlu G, Siklar Z et al. The effect of colchicine on physical growth in children with familial mediterranean fever. Eur J Pediatr 2010; 169(7): 825-828. Go to original source... Go to PubMed...
  50. Rollot F, Pajot O, Chauvelot-Moachon L et al. Acute colchicine intoxication during clarithromycin administration. Ann Pharmacother 2004; 38(12): 2074-2077. Go to original source... Go to PubMed...
  51. Meinzer U, Quartier P, Alexandra JF et al. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum 2011; 41(2): 265-271. Go to original source... Go to PubMed...
  52. Moser C, Pohl G, Haslinger I et al. Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. Nephrol Dial Transplant 2009; 24(2): 676-678. Go to original source... Go to PubMed...
  53. Vargová, V, Macejová Ž. Naše skúsenosti s liečbou anakinrou u pacientky s CINCA/NOMID syndrómom. Rheumatologia 2011; 25(3): 121-125.
  54. Kovács L, Hlavatá A, Paulovičová E et al. Syndrómy periodických horúčok - PFAPA syndróm. Pediatr prax 2009; 10(3): 141-144.
  55. Kovács L, Hlavatá A, Baldovič M et al. Elevated immunoglobulin D levels in children with PFAPA syndrome. Neuro Endocrinol Lett 2010; 31(6): 743-746. Go to PubMed...
  56. Król P, Katra R, Doležalová P. Syndromy periodických horeček. Čes-slov Pediat 2009; 64(10): 480-487.
  57. Szturz P, Adam Z, Sedivá A et al. Schnitzler syndrome: diagnostics and treatment. Klin Onkol 2011; 24(4): 271-277. Go to PubMed...
  58. Kallinich T, Haffner D, Niehues T et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 2007; 119(2): 474-483. Go to original source... Go to PubMed...




Vnitřní lékařství

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.