A Case of Atypical Familial Mediterranean Fever With Pseudopolyposis-Like Mucosal Changes in the Ileum

Cureus. 2024 Apr 3;16(4):e57566. doi: 10.7759/cureus.57566. eCollection 2024 Apr.

Abstract

A 15-year-old male patient presented with recurrent fever. Three months prior, he experienced repeated fevers of 38°C, headaches, and malaise for three days. He experienced repeated fevers over 38°C for >72 hours two weeks prior to the current visit. A computed tomography scan showed enlarged lymph nodes around the ileum, suggesting familial Mediterranean fever (FMF) or inflammatory bowel disease. Endoscopic examination revealed a deformed Bauhin valve and inflammatory changes in the ileum, making inflammatory bowel disease unlikely. Thus, FMF was suspected, and after a thorough explanation, the patient was treated with colchicine, and his symptoms improved. Genetic testing revealed a mutation in the MEFV gene P369S-R408Q, and atypical FMF was diagnosed.

Keywords: colchicine; familial mediterranean fever; inflammatory bowel disease; mefv gene; periodic fever.

Publication types

  • Case Reports