Case Report

MEFV Gene Mutations in a Patient with Eosinophilic Gastroenteritis

Authors: Gulay Kocak, Erdem Kocak, Şeref Rahmi Yilmaz, Seyfettin Koklu, Murat Duranay, Funda Yalcin, Yildiz Albayrak

Abstract

Eosinophilic gastroenteritis (EG) is an uncommon gastrointestinal disease affecting both children and adults. The underlying molecular mechanism predisposing to the clinical manifestation of eosinophilic gastroenteritis is unknown. A 39-year-old man who was followed up with the diagnosis of familial Mediterranean fever (FMF) was admitted to our clinic with diarrhea, abdominal pain, and weight loss. After endoscopic and colonoscopic examinations EG was diagnosed by histopathological examination. Symptoms were resolved with the treatment of budesonide. To our knowledge, this is the first reported case of EG with the MEFV gene mutations in the literature.

This content is limited to qualifying members.

Existing members, please login first

If you have an existing account please login now to access this article or view purchase options.

Purchase only this article ($25)

Create a free account, then purchase this article to download or access it online for 24 hours.

Purchase an SMJ online subscription ($75)

Create a free account, then purchase a subscription to get complete access to all articles for a full year.

Purchase a membership plan (fees vary)

Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.

References

1. Khan S, Orenstein SR. Eosinophilic gastroenteritis: epidemiology, diagnosis and management. Paediatr Drugs 2002;4:563–570.
 
2. Medlej-Hashim M, Loiselet J, Lefranc G, et al. [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. Sante 2004;14:261–266.
 
3. Yurtcu E, Gokcan H, Yilmaz U, et al. Detection of MEFV gene mutations in patients with inflammatory bowel disease. Genet Test Mol Biomarkers 2009;13:87–90.
 
 
4. Khan S. Eosinophilic gastroenteritis. Best Pract Res Clin Gastroenterol 2005;19:177–198.
 
5. Klein NC, Hargrove RL, Sleisenger MH, et al. Eosinophilic gastroenteritis. Medicine (Baltimore) 1970;49:299–319.
 
 
6. Losanoff JE, Kjossev KT, Katrov ET. Eosinophilic enterocolitis and visceral neuropathy with chronic intestinal pseudoobstruction. J Clin Gastroenterol 1999;28:368–371.
 
7. Mueller S. Classification of eosinophilic gastrointestinal diseases. Best Pract Res Clin Gastroenterol 2008;22:425–440.
 
8. Giaglis S, Mimidis K, Papadopoulos V, et al. Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? Dig Dis Sci 2006;51:687–692.
 
9. Tidow N, Chen X, Müller C, et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000;95:1451–1455.
 
10. Drenth JP, van der Meer JW. The inflammasome—a linebacker of innate defense. N Engl J Med 2006;17:730–72.