title: Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene.
abstract: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF.
authors.affiliation: Department of Gastroenterology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences School of Medicine, Tehran, Iran.
authors.forename: Gholam Hossein
authors.initials: GH
authors.lastname: Fallahi
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Nooshin
authors.initials: N
authors.lastname: Sadjadei
keywords: Bloody diarrhea; Familial Mediterranean fever; MEFV gene, mutation
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