An atypical familial Mediterranean fever patient who developed ulcers in the terminal ileum and recurrent abscess-like lesions in multiple organs.
We herein describe the case of a 25-year-old woman who suffered from atypical familial Mediterranean fever for more than a decade. She presented with a periodic fever, abdominal pain and persistent ulcers in the terminal ileum. Colchicine was effective, and familial Mediterranean fever was diagnosed. A genetic study showed a heterozygous E148Q mutation in the MEFV gene. Multiple, recurrent, abscess-like lesions developed asynchronously in the spleen, liver, and a lung. Infliximab was administered when colchicine treatment became ineffective. However, infliximab treatment soon became ineffective, probably because antibodies were generated against it. Therefore, etanercept treatment was started, and the patient showed an immediate response.
Department of Hematology and Gastroenterology, Tenshi Hospital, Japan. tohrut@cocoa.ocn.ne.jp
Tohru
T
Takahashi
Hiroyuki
H
Tsukuda
Hideto
H
Itoh
Hirokazu
H
Kimura
Mitsuru
M
Yoshimoto
Masayuki
M
Tsujisaki
D015746:Abdominal Pain / Q000150:complications; D000038:Abscess / Q000209:etiology*; D000328:Adult; D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D003078:Colchicine / Q000008:administration & dosage; D000068800:Etanercept; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005765:Gastrointestinal Agents / Q000627:therapeutic use; D006801:Humans; D007077:Ileal Diseases / Q000209:etiology; D007074:Immunoglobulin G / Q000627:therapeutic use; D000069285:Infliximab; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use; D012008:Recurrence; D014456:Ulcer / Q000209:etiology
D000911:Antibodies, Monoclonal; D005765:Gastrointestinal Agents; D007074:Immunoglobulin G; D018124:Receptors, Tumor Necrosis Factor; D000069285:Infliximab; D000068800:Etanercept; D003078:Colchicine