Rare cause of duodenojejunal pseudopolyposis: Report of a case of adult‐onset familial Mediterranean fever

Esaki, Motohiro; Kawano, S; Matsumoto, Takayuki

doi:10.1111/den.12843

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…The Tel-Hashomer criteria published in 1997 are often used for the diagnosis of FMF [15]. FMF involvement in gastrointestinal lesions has been considered rare, but recent reports have shown gastrointestinal involvement of FMF in the colon as well as in the small intestine, including the duodenum [4,5,7]. However, the endoscopic features of FMF with enterocolitis have not yet been clarified.…”

Section: Discussionmentioning

confidence: 99%

“…In 2012, we first reported an IBDU patient with a heterozygous G304R mutation in the MEFV gene, who drastically responded to colchicine treatment alone [1]. Following this report, there have been several reports regarding IBDU patients with MEFV mutations responding to colchicine [2][3][4][5][6]. Based on these clinical cases, we advocated the existence of "MEFV gene-related enterocolitis" within the classification of IBDU.…”

Section: Introductionmentioning

confidence: 99%

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Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report

Yokoyama

Yamakawa

Ichimiya

et al. 2021

Clin J Gastroenterol

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Familial Mediterranean fever (FMF) in gastrointestinal involvement has been considered rare, but resent reports suggest that FMF causes enterocolitis which is similar endoscopic findings to inflammatory bowel disease. The clinical characteristics and endoscopic findings of FMF with enterocolitis remain unclear. Here, we report a case of an FMF patient who had enterocolitis with stricture of the terminal ileum whose endoscopic and clinical features mimicked Crohn’s disease. A 23-year-old man who was diagnosed with FMF 10 years ago presented with abdominal pain and diarrhea. Colonoscopy showed terminal ileitis and aphthous colitis; however, these findings, including the histopathology, did not confirm Crohn’s disease. Therefore, we diagnosed FMF with enterocolitis and administered anti-interleukin-1β monoclonal antibody (canakinumab). The patient’s symptoms improved with treatment, but after 1 year, lower abdominal pain recurred. Colonoscopy revealed a stricture of the terminal ileum. Endoscopic balloon dilation relieved his symptoms. At present, he has been followed up without surgical treatment by endoscopic balloon dilation every 6 month. Clinicians should be aware that FMF accompanied with enterocolitis may resemble Crohn’s disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report

Yokoyama

Yamakawa

Ichimiya

et al. 2021

Clin J Gastroenterol

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“…Yamamoto et al [19] reported a patient with MEFV-related enterocolitis with granular mucosa and rectal sparing. Among reports of gastrointestinal lesions located outside the colon, Esaki et al [20] reported a patient with pseudopolyposis-like lesions in the duodenum with MEFV gene mutation (Exon 2-R202Q) whose disease responded to colchicine. The existence of cases with MEFV gene mutation mimicking IBD demonstrates the need to discriminate MEFV generelated enterocolitis from IBD, particularly because those patients may be resistant to standard therapy for IBD, including 5-ASA, corticosteroids, and biologic agents.…”

Section: Discussionmentioning

confidence: 99%

MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified

et al. 2019

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Background and Aims: Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An MEFV gene mutation has been identified as the cause of FMF. Recently, patients with MEFV gene mutations and chronic gastrointestinal mucosal inflammation mimicking inflammatory bowel disease (IBD) have been reported. In this retrospective study, we analyzed the clinical characteristics of patients with IBD unclassified (IBDU) with MEFV gene mutations. Methods: MEFV gene analysis was performed on 8 patients with IBDU among 710 patients with IBD who had been treated at Kyorin University Hospital from April 2016 to December 2018. Clinical manifestations, endoscopic findings, and serological markers were also analyzed. Results: The average of the 8 patients with IBDU (3 men, 5 women) was 32.7 ± 6.4 years (range 26-76 years). Their symptoms comprised diarrhea (n = 8, 100%), hematochezia (n = 3, 37.5%), abdominal pain (n = 3, 37.5%), high fever (n = 2, 16.5%), and other periodic symptoms (n = 2, 16.5%). MEFV gene mutation was confirmed in 4/8 of these patients. Colonoscopy showed various mucosal lesions, rectal sparing, right side dominant colitis, pseudopolyposis, and granular protrusions. Colchicine was administered to 5 of the 8 patients (4 with and 1 without MEFV mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine. Conclusions: Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.

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“…FMF is mainly characterized by serositis and is rarely accompanied by intestinal mucosal lesions. However, in recent years, the number of cases with intestinal mucosal lesions has been increasing, and FMF-related enterocolitis should be distinguished from ulcerative colitis (UC) or CD [58][59][60][61][62][63].…”

Section: Autoinflammatory Diseasesmentioning

confidence: 99%

Contradictory Effects of NLRP3 Inflammasome Regulatory Mechanisms in Colitis

Wagatsuma

Nakase

2020

IJMS

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The inflammasome is an intracellular molecular complex, which is mainly involved in innate immunity. Inflammasomes are formed in response to danger signals, associated with infection and injury, and mainly regulate the secretion of interleukin-1β and interleukin-18. Inflammasome dysregulation is known to be associated with various diseases and conditions, and its regulatory mechanisms have become of great interest in recent years. In the colon, inflammasomes have been reported to be associated with autophagy and the microbiota, and their dysregulation contributes to colitis and. However, the detailed role of inflammasomes in inflammatory bowel disease is still under debate because the mechanisms that regulate the inflammasome are complex and the inflammasome components and cytokines show seemingly contradictory multiple effects. Herein, we comprehensively review the literature on inflammasome functioning in the colon and describe the complex interactions of the Nod-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome components with inflammatory cytokines, autophagy, and the microbiota in experimental colitis models and patients with inflammatory bowel disease.

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Rare cause of duodenojejunal pseudopolyposis: Report of a case of adult‐onset familial Mediterranean fever

Cited by 4 publications

References 5 publications

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report

MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified

Contradictory Effects of NLRP3 Inflammasome Regulatory Mechanisms in Colitis

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