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Familial Mediterranean Fever (FMF) before the age of one year
Pediatric Rheumatology volume 6, Article number: P180 (2008)
Background
Familial Mediterranean Fever is an autosomic recessive autoinflammatory disease reaching populations of Mediterranean countries. It is mainly a paediatric affection, with a usual presentation at the age of 4 years. However, some cases may start within the first year of life. Only few is known, on their presentation, course and outcome.
Objectives
To identify FMF symptoms in patients before the age of one year. To compare these patients to those with later onset of FMF (after the age of one year).
Population and methods
Retrospective chart review of genetically confirmed FMF patients, comparing clinical symptoms, ethnic origin, response to colchicine and MEFV gene mutations, in the two age groups of patients.
Results
We identified 446 patients divided as such: 37 in the early-onset group (A) and 409 in the other group (B). A statistically significant difference was noted between the 2 groups (A vs B) for the ethnic origin (Sefaradic Jews p < 0.001), male preponderance (p < 0.015), number of crises/month (p < 0.015), response to colchicine treatment, and type of mutations in codon 694 and 680 (for M694V, p < 0.04).
Conclusion
This study shows a 10% prevalence rate of FMF before the age of 1 year, and highlights the difficulty to make early diagnosis. The early appearance of the first symptoms may be predictive of disease severity, as these patients have more severe phenotype and carry mutations known as the most severe.
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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (https://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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Delion, F., Touitou, I. & Kone-Paut, I. Familial Mediterranean Fever (FMF) before the age of one year. Pediatr Rheumatol 6 (Suppl 1), P180 (2008). https://doi.org/10.1186/1546-0096-6-S1-P180
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DOI: https://doi.org/10.1186/1546-0096-6-S1-P180