Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene Mutation
Shima KumeiTsukasa NozuMasumi OhiraSaori MiyagishiToshikatsu Okumura
Author information
JOURNALS OPEN ACCESS

2017 Volume 56 Issue 16 Pages 2233-2236

Details
Abstract

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by recurrent fever with serosal inflammation. We experienced a 53-year-old male who had been suffering from periodic attacks with slight fever and myalgia which were mainly triggered by cold exposure in winter. Although his clinical course did not satisfy the criteria for familial Mediterranean fever, heterozygous E148Q/M694I mutation in the Mediterranean fever (MEFV) gene was detected. Further attacks were prevented by treatment with colchicine. Attention should therefore be paid to the possibility of atypical FMF symptoms, which should be accurately diagnosed by genetic analyses to prevent the development of amyloidosis.

Information related to the author
© 2017 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top