Tohoku J. Exp. Med., 2021 September, 255(2)

Immunoglobulin A Vasculitis in a Japanese Patient with Complete Familial Mediterranean Fever Carrying MEFV Exon 10 Mutation

Tomomi Sasajima,1 Yuya Fujita,2 Yutaka Ejiri,3 Tomohiro Suzuki,3 Jun Wada,3 Kohei Yokose,2 Shuhei Yoshida,2 Haruki Matsumoto,2 Tomoyuki Asano,2 Shuzo Sato,2 Makiko Yashiro-Furuya,2 Naoki Matsuoka,2 Jumpei Temmoku,2 Toru Yago,2 Hiroshi Watanabe2 and Kiyoshi Migita2

1Department of Rheumatology, Fukushima Rosai Hospital, Iwaki, Fukushima, Japan
2Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Fukushima, Japan
3Department of Gastroenterology, Fukushima Rosai Hospital, Iwaki, Fukushima, Japan

Immunoglobulin A (IgA) vasculitis is a systemic small-vessel vasculitis involving the skin, kidney, joints, and gastrointestinal tract. Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by periodic fever, peritonitis, pleuritis, or arthritis. It is well known that FMF may coexist with vasculitis, especially small and medium vessel vasculitis. Here we present a Japanese male patient with FMF who later developed IgA vasculitis and a relapsing disease course. A 51-year-old Japanese male was referred because of upper abdominal pain, arthralgia, and bilateral purpura of the lower limbs. He fulfilled the criteria for IgA vasculitis, which was successfully treated by corticosteroid and immunosuppressive therapy. He had a medical history of periodic fever since the age of 10 years old. The Mediterranean fever (MEFV) gene analysis revealed that he was heterozygous for M694I and E148Q mutations. Colchicine therapy resolved his periodic febrile attacks. To our knowledge, coexistence of FMF with IgA vasculitis has not been reported in East Asia, including Japan. Our case suggests that MEFV gene exon 10 mutations could be related to the development of IgA vasculitis and affects its clinical course.

Keywords —— autoinflammatory disease; familial Mediterranean fever; fever of unknown origin; IgA vasculitis; MEFV gene


Tohoku J. Exp. Med 2021, 255, 157-162.

Correspondence: Yuya Fujita, M.D., Department of Rheumatology, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima, Fukushima 960-1295, Japan.