周期性の発熱，胸背部痛をきたした家族性地中海熱の女性例 : AYA世代患者における多職種連携の重要性

【Introduction】Familial Mediterranean fever（FMF） is an autoinflammatory disease that is characterized by repeated periodic fever and serositis. FMF is mainly inherited in an autosomal recessive manner. While the prognosis of FMF is good with oral colchicine which is recommended to take for avoiding amyloidosis, FMF is associated with many medical and social issues, such as stigma against genetic diseases and infertility due to oral colchicine. 【Case】From year X, a female teenager repeatedly developed fever of 38℃ that continued for 2-3 days and unilateral chest and back pain once a month. She visited a nearby clinic, however, her symptoms spontaneously disappeared. She was kept under observation without definite diagnosis. In May of X+4, she developed fever and right chest pain and referred to our hospital. By the time she presented to our hospital, symptoms had disappeared and there were no abnormalities in a peripheral blood examination or on whole-body CT or cardiac ultrasound. Based on her clinical course, we suspected an autoinflammatory disease ; therefore, we performed a genetic examination with informed consent from the patient and her guardian. The results obtained revealed that heterogenous pathogenic variant in the MEFV gene（M694I）, and, thus, she was diagnosed with FMF. The oral administration of colchicine was initiated in November of the same year, which resolved fever and chest and back pain. In X+7, she started a job, which affected her daily life and the regularity with which she took oral colchicine. Therefore, chest and back pain relapsed. She expressed concerns about infertility and teratogenicity caused by oral colchicine and received a second opinion and genetic counseling, which improved compliance with oral colchicine. 【Discussion】Adolescent and young adult generation patients have strong phycological stress and anxiety about the future, such as educational plans, employment, marriage, and pregnancy, which need to be considered in their treatment. Further improvement in awareness of FMF and the establishment of a medical care support system through inter-professional work, including internal medicine, pediatrics, obstetrics and gynecology, clinical genetic staff and clinical psychologists, are needed.