Abstract
Rationale: We wanted to study the effects of Familial Mediterranean Fever (FMF) genetic mutations in Northern Jordan population and in vitro Colchicine treatment on the peripheral blood mononuclear cells (PBMN) production of IL-6 as a marker of disease activity. Methods: - 17 FMF patients and 9 controls were studied. (4 patients had exon 10 mutations only (M680I and V726A), 5 patients had exon 2 mutations (R202Q and E148Q) only and 8 patients with both exon mutations (compound homozygous or heterozygous M694V and R202Q). PBMN cells were incubated with Lipopolysaccharide at 100ng/ml or colchicine 10 ng/ml alone or both. Results: The results showed higher IL-6 levels in the FMF group than control for all treatment modalities, (108.97 vs. 56.49 ng/ml for unstimulated cells) with the highest levels when both exons are involved. Exon 10 mutations were associated with a higher IL-6 level than exon 2 mutations only. Exon 2 mutations alone also were associated with a higher than control IL-6 levels suggesting that it is not a polymorphism phenomenon and is involved in the pathogenesis. In vitro Colchicine treatment caused an increase in the production of IL-6 - although not as high as with LPS - for all groups. Conclusions: Mutations occurring in exon 10 are more significant than mutations occurring in exon 2, although both are contributing to the disease. However colchicine was associated with a paradoxical increase in IL-6 levels. This observation needs confirmation with different colchicine levels in the culture medium and warrants thinking about its exact mechanism of action. DOI: http://dx.doi.org/10.3329/bjms.v12i4.16659Bangladesh Journal of Medical Science Vol. 12 No. 04 October 13 Page 370-377
Highlights
Familial Mediterranean Fever (FMF, OMIM 249100) is the prototype and the most frequent hereditary periodic fever syndrome 1
The disease can be complicated by AA amyloidosis that may lead to renal failure
Princess Haya Biotechnology Center (PHBC) provided us with their registry of MEFV gene mutations work in Northern Jordan
Summary
Familial Mediterranean Fever (FMF, OMIM 249100) is the prototype and the most frequent hereditary periodic fever syndrome 1. The international medical community gave the disease its name (FMF) which reflects on the three classical aspects of the disease. Familial because it is a hereditary inflammatory disorder. Fever is the most common feature of the disease. FMF is classically inherited as an autosomal recessive trait. It is characterized by recurrent short selflimiting attacks of fever, peritonitis, pleuritis, arthritis and skin lesions. Clinical symptoms of the attacks have intra- and inter-individual variances. FMF attacks generally start in childhood or adolescence in about 50% of the cases, but it can develop after the age of 30 years in some individuals with more benign disease profile 3. Patients between attacks are free of symptoms the biochemical markers for inflammation may persist 4
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