Abstract
We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene.The first patient is a 38-year-old man who also has chronic myelogenous leukemia (CML). Because genomic DNA analysis of the patient’s nail revealed the E148Q/M694I mutation, we concluded that the individual mutations were obtained congenitally. Interferon therapy was effective against not only the CML but also the FMF. The second patient is a 42-year-old man with consanguineous parents and a 14-year history of recurrent lower abdominal and back pain associated with fever. He successfully responded to colchicine treatment. The third patient is a 23-year-old woman who has a family history of FMF and since the age of 11 years has had recurrent chest and abdominal pain with fever. The onset of FMF was at an early age in this case, in contrast with the late onset of the disease in the first 2 cases. This patient’s mother also has a heterozygous M694I mutation and experienced the same symptoms until 30 years of age. Our data suggest that it should be recognized that there are more FMF patients in Japan than previously expected and that the frequency of the E148Q/M694I mutation may be significant in Japanese FMF patients.
Similar content being viewed by others
References
The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797–807.
The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25–31.
Sohar E, Gafni J, Pras M, Heller J. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med. 1967;43:227–253.
Shinozaki K, Agematsu K, Yasui K, et al. Familial Mediterranean fever in 2 Japanese families. J Rheumatol. 2002;29:1324–1325.
Tomiyama N, Oshiro S, Higashiuesato Y, et al. End-stage renal disease associated with familial Mediterranean fever. Intern Med. 2002;41:221–224.
Tunka M, Tankurt E, Akpinar A, Akar S, Hizli N, Gonen O. The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: a pilot study. Br J Rheumatol. 1997;36:1005–1008.
Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879–1885.
Takahashi A, Yamamoto K, Okuma M, Sasada M. Transient calcium elevation in polymorphonuclear leukocytes triggered by thrombinactivated platelets. Eur J Haematol. 1992;148:196–201.
Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–483.
Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol. 2003;18:853–859.
Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat. 2000;15:385–386.
Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat. 2003;22:339–340.
Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. QJM. 2001;94:527–531.
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Kotone-Miyahara, Y., Takaori-Kondo, A., Fukunaga, K. et al. E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. Int J Hematol 79, 235–237 (2004). https://doi.org/10.1532/IJH97.03119
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1532/IJH97.03119