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

抄録

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.