E148Q/M694I Mutation in 3 Japanese Patients with Familial Mediterranean Fever

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 alpha 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.

Clinical Study of 7 Cases of Familial MediterraneanFever with MEFV Gene Mutation

“…In the 4 cases (13,14,16,22) reported in Japan, where changes in the frequency and severity of attack were described, three were aggravated with age (13,14,22) and only 1 case remitted (16 Colchicine is usually used for treatment, but cases that responded to interferon (14), the herbal medicine, Shosaikoto (15), and prazosin hydrochloride (8) (24).…”

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

“…FMF is observed most frequently in Jewish, Armenian, Arab, Turkish, and Italian people, and it has been thought to be a rare disease in Japan. However, an increasing number of cases of FMF have been reported in Japan (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Unlike typical FMF cases in endemic areas, some cases in Japan have been sporadic and adult-onset cases.…”

A Japanese Patient with Familial Mediterranean Fever Associated with Compound Heterozygosity for Pyrin Variant E148Q/M694I

“…Reactive AA amyloidosis frequently occurrs in the patients with this disease and the prognosis is determined by the complication of AA amyloidosis (1,2). In Japan, although 20 cases with FMF have been reported to date, only a few cases were diagnosed by MEFV gene analysis (5)(6)(7)(8).…”