Remarkable effectiveness of tocilizumab in familial Mediterranean fever exon 3 variant with severe abdominal pain and PFAPA-like symptoms: a child case report and review of the literature

AbstractFamilial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. While accompanying severe abdominal pain by serositis is characteristic of typical FMF, periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome (PFAPA)-like symptoms have been observed in atypical FMF harbouring P369S-R408Q mutations in exon 3 of MEFV gene (i.e. exon 3 variants), treatment of which is often difficult. This study describes the clinical findings of a patient with FMF exon 3 variants and the effectiveness of tocilizumab therapy. We also surveyed the literature to identify the characteristics and treatments of MEFV exon 3 variants. An 8-year-old boy with FMF experiencing recurrent fever accompanied by strong abdominal pain and PFAPA-like symptoms was found to possess heterozygous alterations involving E148Q/P369S/R408Q. Corticosteroids produced a partial response, colchicine was largely ineffective, and a persistent cure was not obtained by tonsillectomy. However, furt...