Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

• Main Authors: Tomonobu Sato (Author), Shunichiro Takezaki (Author), Takeru Goto (Author), Shinichi Ishikawa (Author), Kazumi Oura (Author), Asuka Takahata (Author), Haruki Shiraishi (Author), Yuji Maruo (Author), Norio Sato (Author), Takashi Suganuma (Author), Makoto Mikawa (Author)
• Format: Book
• Published: Hindawi Limited, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2090-6803; 2090-6811; 10.1155/2021/6650226
• Keywords: Pediatrics; RJ1-570
• Source: Case Reports in Pediatrics, Vol 2021 (2021)

Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality. FMF can be categorized as typical or atypical, based on clinical findings and genetic screening. Atypical FMF has a wide variation of clinical findings and disease-causing mutations of MEFV. Therefore, it is sometimes difficult to diagnose an unknown fever as FMF. To date, a large number of various typical and atypical FMF cases have been reported in Japan. Here, we describe a Japanese boy with heterozygous MEFV p.Ser503Cys exon 5 variant who developed periodic fever. He was treated with colchicine; a complete eradication of his fever and various accompanying symptoms have been subsequently achieved for more than a year. Given that there have been a few reports about patients with this variant, little is known about the genetic and phenotypic role of heterozygous MEFV p.Ser503Cys exon 5 variant. It is therefore imperative to consider atypical FMF as a differential diagnosis when a periodic fever is encountered. Furthermore, we suggest that it is worthwhile to integrate MEFV gene analysis with the potential effects of colchicine treatment in patients with periodic fever.