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European Journal of Pediatrics

, Volume 162, Issue 7–8, pp 449–454 | Cite as

Familial mediterranean fever: revisiting an ancient disease

  • Seza Ozen
Review

Abstract

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessive fashion. The disease is caused by mutations in the gene on the short arm of chromosome 16, coding for the protein "pyrin". Pyrin is mainly expressed in neutrophils and monocytes and is among the proteins involved in the interleukin-1 inflammatory pathway. The recurrent attacks of fever are accompanied by severe abdominal pain, arthritis and/or chest pain along with a marked increase in acute phase reactants. Among these, serum amyloid A protein is especially important since it is the precursor of the amyloid A fibrils deposited in secondary renal amyloidosis. Renal amyloidosis has a grave prognosis. Differential diagnosis from other periodic fever syndromes is especially important in western European countries. Among these hyper IgD syndrome is common in Netherlands and the tumour necrosis factor receptor-associated periodic syndrome is especially common among Scottish and Irish families. Mutation analysis of the gene may be helpful in diagnosing FMF; however, if this is not possible, a trial of colchicine is a helpful diagnostic tool. The indications for life-long colchicine treatment should be discussed with the family. Conclusion: familial mediterranean fever and other auto-inflammatory syndromes should be suspected in children with recurrent febrile attacks. Early diagnosis will save the child from unnecessary work-up and kidney involvement.

Keyword

Familial mediterranean fever 

Abbreviations

CINCA

chronic infantile neurological cutaneous arthropathy

FCU

familial cold urticaria

FCUS

familial cold auto-inflammatory syndrome

FMF

familial mediterranean fever

HIDS

hyperimmunoglobulinaemia D syndrome

IL

interleukin

MVK

mevalonate kinase

MWS

Muckle-Wells syndrome

PAN

polyarteritis nodosa

SAA

serum amyloid A protein

TRAPS

tumour necrosis factor-receptor associated periodic fever syndrome

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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  1. 1.Department of Paediatric Nephrology and RheumatologyHacettepe University Faculty of MedicineAnkaraTurkey

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