-Case Reports-

Accurate Diagnosis of Familial Mediterranean Fever Improved Quality of Life for a Patient and Her Family: A Case Report

Mami Kurihara¹, Toru Igarashi^1,2, Ryu Ishii¹, Hanako Tajima¹, Jun Hayakawa¹ and Makoto Migita¹

¹Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan
²Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan

Periodic fever syndrome is diagnosed on the basis of duration of fever, associated symptoms, and blood and genetic test results. During a 6-month period, a 3-year-old girl experienced monthly fever (39°C) episodes persisting 5 to 12 days and two episodes of ankle arthralgia and skin rash during fever. No abdominal or chest pain was noted. Blood tests performed at the time of fever revealed elevated CRP levels and blood sedimentation rates. Urinalysis and bone marrow examination results were unremarkable. Genetic testing for hereditary autoinflammatory disease syndromes showed E84K MEFV gene mutations. After diagnosing atypical familial Mediterranean fever, oral colchicine alleviated the febrile attacks and improved family quality of life. Fever, arthralgia, and skin rash disappeared after oral colchicine, which is effective for atypical familial Mediterranean fever. During the 6 months before the diagnosis, periodic fever disrupted the daily lives of the entire family. The patient was absent from nursery school during fever. The patient's illness affected her mother's health. The mother was concerned about her child's unknown fever, which resulted in depression and the need for psychiatric medication. Colchicine resolved the febrile episodes, and resolution of the patient's symptoms alleviated her mother's depression. This case shows that genetic testing for periodic fever syndrome can improve family quality of life.

J Nippon Med Sch 2025; 92: 480-485

Keywords
periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA syndrome), familial Mediterranean fever (FMF), MEFV gene mutation, quality of life

Correspondence to
Toru Igarashi, MD, PhD, Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan
iga@nms.ac.jp

Received, May 23, 2024
Accepted, October 30, 2024