The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula
Maşallah BARAN1, Yeliz ÇAĞAN APPAK2, Pınar GARİPCİN3, Yavuz DEMİRÇELİK3, Emel Ebru PALA4, Berk ÖZYILMAZ5, Miray KARAKOYUN2, Orkan ERGÜN6
1Department of Pediatric Gastroenterology, Hepatology and Nutrition, İzmir Katip Çelebi University School of Medicine, İzmir, Turkey
2Department of Pediatric Gastroenterology, Hepatology and Nutrition, Tepecik Training and Research Hospital, İzmir, Turkey
3Department of Pediatria, Tepecik Training and Research Hospital, İzmir, Turkey
4Department of Pathology, Tepecik Training and Research Hospital, İzmir, Turkey
5Department of Medical Genetics, Tepecik Training and Research Hospital, İzmir, Turkey
6Department of Pediatric Surgery, Ege University School of Medicine, İzmir, Turkey
Keywords: Colchicine, infantile colitis, perianal fistula
Abstract
Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD. In this article, we describe a case of I-IBD with a resistant fistula, in which remission occurred following colchicine therapy. The patient was a six-month-girl with complaints of bloody diarrhea and a perianal abscess of three months duration. Laboratory tests revealed elevated inflammatory parameters, hypoalbuminemia, and anemia. Results of repeated viral, bacterial and parasitic analyses were negative. Endoscopic and histopathological examinations confirmed a diagnosis of I-IBD. Although diarrhea episodes decreased following intensive conventional treatment with immunosuppressive therapy and anti-tumor necrosis factor, the perianal abscess and fistula did not resolve. Molecular genetic analysis to identify causes of infantile disease revealed the MEFV gene mutation. Thus, colchicine was added to the treatment regimen. Following treatment with colchicine, defecation returned to normal, and the fistula resolved. The MEFV gene mutation should be investigated in children with infantile colitis and resistant fistulas, particularly in Mediterranean countries. In patients with infantile colitis who have the MEFV gene mutation, colchicine treatment may be an alternative to intensive immunosuppressive therapy.
Citation: Baran M, Çağan Appak Y, Garipcin P, Demirçelik Y, Pala EE, Özyılmaz B, et al. The role of familial mediterranean fever gene mutation in treatment of infantile colitis with resistant perianal fistula. Arch Rheumatol 2018;33(4):473-477.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.