Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
Gut and Liver
;
: 497-499, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-124619
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fiebre Mediterránea Familiar
/
Dolor Abdominal
/
Colchicina
/
Diarrea
/
Enfermedades Autoinflamatorias Hereditarias
/
Fiebre
/
Hemorragia
/
Heterocigoto
Límite:
Humanos
Idioma:
Inglés
Revista:
Gut and Liver
Año:
2013
Tipo del documento:
Artículo
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