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- Title
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.
- Authors
Tajika, Makiko; Takeuchi, Yusuke; Arai, Mai; Fujimaki, Koichiro; Soga, Takashi; Agematsu, Kazunaga; Kawakami, Atsushi; Umeda, Yoh
- Abstract
Familial 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, further attacks were completely prevented by monthly administration of tocilizumab. We believe this to be a rare case of paediatric FMF exon 3 variants that showed a complete response to tocilizumab. A comprehensive review of 23 reported cases of FMF carrying P369S-R408Q alterations revealed that patients displayed various manifestations, such as abdominal pain, uveitis, osteomyelitis, and renal failure with amyloidosis, in addition to PFAPA-like symptoms. A wide range of responses was seen for colchicine, infliximab, etanercept, adalimumab, anakinra and another adult case of tocilizumab treatment. Tocilizumab therapy for FMF exon 3 variants may prevent the development of amyloidosis, and improve patient quality of life from recurrent fever attacks.
- Subjects
FAMILIAL Mediterranean fever; TOCILIZUMAB; ABDOMINAL pain; AMYLOIDOSIS; ADRENOCORTICAL hormones
- Publication
Modern Rheumatology Case Reports, 2019, Vol 3, Issue 2, p179
- ISSN
2472-5625
- Publication type
Case Study
- DOI
10.1080/24725625.2018.1556846