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

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...

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Bibliographic Details
Published in:Case reports in pediatrics 2021-03, Vol.2021, p.6650226-6
Main Authors: Sato, Tomonobu, Takezaki, Shunichiro, Goto, Takeru, Ishikawa, Shinichi, Oura, Kazumi, Takahata, Asuka, Shiraishi, Haruki, Maruo, Yuji, Sato, Norio, Suganuma, Takashi, Mikawa, Makoto
Format: Article
Language:English
Subjects:
Abdomen
Antibiotics
Antigens
Arthritis
Blood
Case Report
Case reports
Colchicine
Cytokines
Cytomegalovirus
Familial Mediterranean fever
Fever
Genetic aspects
Genetic screening
Hematology
Laboratories
Medical research
Medicine, Experimental
Mutation
Pain
Patients
Pediatrics
Peritonitis
Proteins
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Summary: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.
ISSN:2090-6803
2090-6811
DOI:10.1155/2021/6650226