Rheumatology Medical News about FMF, MEFV gene, Mutation

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Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: Results of a single center in Central Anatolia
Rheumatology International, 08/06/09

Ureten K et al. – Study concludes that the mean delay to diagnosis in this familial Mediterranean fever (FMF) population was quite high. Early and adult onset forms may differ regarding some clinical, molecular and prognostic characteristics; disease activity was higher in pts with homozygote mutation of M694V.

Methods

An investigation of demographic, clinical and mutational features of FMF pts who were treated in a single reference hospital in Turkey
260 pts (169 females, mean age 30.44 ± 10.29 yrs) were included
All pts were evaluated regarding MEFV gene mutations
Mean age of disease onset was 17.21 ± 8.66 yrs (range 2-40 yrs)

Results

Mean duration between the disease onset and diagnosis was 9.39 ± 8.92 yrs
70% of pts had symptoms before 20 yrs of age (early onset FMF)
Arthritis and erysipelas like erythema (ELE) were more common
Mean duration between the disease onset and diagnosis was longer in early onset FMF pts
Frequency of attacks per year, and disease severity score (DSS) was higher in early onset pts
Homozygote mutation of M694V was detected in 20.2% and 5.2% pts in early onset FMF and adult onset FMF groups, respectively
Histological diagnosis of amyloidosis was established in 2.7% pts
Age of disease onset was earlier, and arthritis and ELE were more frequent
DSS was higher in pts with M694V/M694V mutation

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MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations
Rheumatology International, 10/16/09 Relevance Score: 90%

Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children
Journal of Paediatrics and Child Health, 10/27/09 Relevance Score: 88%

Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia
Medical Principles and Practice, 10/05/09 Relevance Score: 87%

Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Behcets disease
Clinical Rheumatology, 10/06/09 Relevance Score: 79%

Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
Pediatrics, 10/01/09 Relevance Score: 79%