The Familial Mediterranean fever (FMF, MIM249100) is an autoimflammatory genetic disease characterized with recurrent painful
attacks in the abdomen, chest or joints, usually accompanied with high body temperature. It is classically inherited in an autosomal recessive manner. It is associated with mutations of the MEFV gene, coding for the protein pyrin. More than 140 mutations of the MEFV gene
are defined worldwide. Despite the progress in establishing reliable tests practical for routine use, as much as 20% of the patients with FMF
remain without a detectable mutation in the MEFV gene. This is the main reason why the diagnosis of FMF remains still a clinical one, according to Tel Hashomer criteria.
A 10-year old girl admitted to the Clinic of Pediatrics at the Faculty of Medicine in Skopje for unexplained fever. After numerous laboratory analyses and specialist consultations were done, genetic testing for FMF was requested. The presence of an heterozygous mutation
E148Q was confirmed at the Institute for Immunobiology and Human Genetics using a PCR based, reverse hybridization method. Administration of colchicine, the therapy of choice, in a dose of 1.5 mg/day, lead to complete resolution of the symptoms within some days following commencement.
Although the disease is classically inherited in a recessive manner, some atypical cases of autosomal dominant inheritance are
described. Our patient may be another example supporting the unusual dominant inheritance, since the heterozygous state for the E148Q
mutation was the only positive finding in the genotyping of the 12 most frequent MEFV mutations
