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P01-018 – An earliest diagnosis of FMF

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Introduction

Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompanied by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease at older age can rarely occur. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. Mutation analysis supports diagnostic evaluation.

Case report

Here, we are reporting the youngest FMF patient, that were internalized after birth as sepsis. Physicians were unable to discharge her from the hospital due to high acute phase response, that was dedicated to meningitis, urinary tract infection, sepsis and so on. Her metabolic screenings were done and were found to be negative. She was consulted to pediatric rheumatology for the high acute phase response and fever. With a detailed history and evaluation, it was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V andR202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started with a dose of 0.25 mg/day. She responded to colchicine both clinically and in laboratory basis. Her uncontrolled acute phase response declined gradually.

Discussion

This case was reported to point out the importance of early remembrance of possible autoinflammatory diseases even at very early ages especially at endemic countries.

Disclosure of interest

None declared

References

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    Padeh Shai, Livneh Avi, Pras Elon, Shinar Yael, Lidar Merav, Feld Olga, Berkun Yackov: Familial Mediterranean Fever in the First Two Years of Life: A Unique Phenotype of Disease in Evolution. The Journal of Pediatrics. 2010, 156 (6): 985-9.

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    Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur , Yalcınkaya F: Familial Mediterranean Fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine. 2005, 84 (1): 1-11.

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    Yalcinkaya F, Ozcakar ZB, Tanyildiz M, Elhan AH: Familial Mediterranean Fever in Small Children in Turkey. Clin Exp Rheumatol. 2011, 29 (4 Suppl 67): S87-90.

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Author information

Correspondence to N Aktay Ayaz.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Keywords

  • Meningitis
  • Colchicine
  • Mutation Analysis
  • Familial Mediterranean Fever
  • Ankle Joint