Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.

OBJECTIVES

the aim of this study was to describe the genetic and clinical features of familial Mediterranean fever (FMF) in a group of Egyptian children.

MATERIALS AND METHODS

This cross-sectional observational study included 65 children diagnosed with FMF according to the (Eurofever/PRINTO) classification criteria. The complete blood count (CBC), and acute phase reactants such as Serum amyloid A (SAA), and C-reactive protein (CRP) were all measured during the febrile episode. Mutation analysis for the MEFV gene was carried out for all subjects.

RESULTS

A total of 65 patients with FMF were included in the study. The first clinical manifestation was recurrent fever in all patients. Recurrent oral lesions accompanied fever in 63% of cases, abdominal pain in 31%, and musculoskeletal pain in 6%. The mean SAA level was 162.5 ± 85.78 mg/L. MEFV mutations were detected in 56 patients (86%). Among these patients, 6 (10.7%) were homozygous, while 44 (78.6%) were heterozygous. The most frequently observed mutation was E148Q 24 (37.5%), followed by M694I 18 (32.1%), and V726A 13 (20.3%). Half of the patients with oral lesions were E148Q positive, however abdominal pain was found to be higher in the patients with the M694I mutation.

CONCLUSION

Recurrent fever with oral lesions could be an important atypical presentation of FMF in Egyptian children that should not be ignored and/or missed.