Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

Kitade, Takashi; Horiki, Noriyuki; Katsurahara, Masaki; Totoki, Toshiaki; Harada, Togoro; Tano, Shunsuke; Yamada, Reiko; Hamada, Yasuhiko; Inoue, H.; Tanaka, Kyosuke; Gabazza, Esteban C.; Hayashi, Hiroyuki; Tanaka, Masanori; Takei, Yoshiyuki

doi:10.2169/internalmedicine.54.3690

Cited by 13 publications

(13 citation statements)

References 18 publications

(16 reference statements)

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“…It was first described in 1997, and shown that mutations in the Mediterranean fever (MEFV) gene, which is found in the short arm of the 16th chromosome (16p13.3), is responsible for FMF. The disease is frequently seen in Turks, Jews, Armenians, Arabs, and Japanese [ 2 ]. More than 70 mutations have been identified in the MEFV gene and the most common mutations is M694V [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Endoscopic Findings of Children with Familial Mediterranean Fever

Sağ

Demir

Sayğın

et al. 2018

Pediatr Gastroenterol Hepatol Nutr

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PurposeFamilial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF.MethodsPatient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212).ResultsNo different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p<0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1–84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p<0.05, OR: 11 and 95% CI: 0.8–147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms.ConclusionPatients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.

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Section: Introductionmentioning

confidence: 99%

Endoscopic Findings of Children with Familial Mediterranean Fever

Sağ

Demir

Sayğın

et al. 2018

Pediatr Gastroenterol Hepatol Nutr

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“…[ 6 – 10 ] To date, however, only a few endoscopic findings of gastrointestinal lesions in patients with FMF have been described so far. [ 6 – 12 ] In the present article, we report a case of FMF in which both the clinical symptoms and endoscopic findings resembled those of CD.…”

Section: Introductionmentioning

confidence: 83%

“…Demir et al, [ 11 ] examined 41 patients with FMF by capsule endoscopy and found mucosal defects (erosions or ulcers) in the small bowel in 44% of patients. Kitade et al [ 12 ] reported a case of FMF with multiple jejunoileal lesions of petal-shaped redness and white hemming detected by capsule endoscopy and double-balloon endoscopy. Thus, patients with FMF are presumed to have variable small bowel lesions.…”

Section: Discussionmentioning

confidence: 99%

Familial Mediterranean fever mimicking Crohn disease

et al. 2018

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Rationale:Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease.Patient concerns:A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. He had presented with recurrent fever, abdominal pain, anal fistula and stomatitis. His father and one of his brothers had ulcerative colitis. Colonoscopy revealed longitudinal ulcers in the terminal ileum and aphthous erosions in the colorectum. Esophagogastroduodenoscopy revealed multiple linear erosions in the gastric corpus and circular erosions in the duodenal second portion. Biopsy from these lesions failed to detect epithelioid cell granulomas.Diagnoses:Analysis of the genomic DNA revealed compound heterozygous mutations of E148Q/L110P in exon 2 of MEFV gene, suggesting a diagnosis of FMF.Interventions:The patient was subsequently given 0.5 mg of colchicine per day.Outcomes:Follow-up colonoscopy 6 months later demonstrated that both the longitudinal ulcers in the terminal ileum and aphthous lesions in the colorectum had completely disappeared.Lessons:Our case suggests that patients with FMF possibly manifest gastrointestinal lesions mimicking Crohn disease.

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“…Villous atrophy can occasionally be observed under endoscopic studies in patients with persistent diarrhea, especially in those suffering from inflammatory diseases of the gastrointestinal (GI) tract such as celiac disease, Crohn’s disease, eosinophilic gastroenteritis and familial Mediterranean fever [2–5]. Crohn’s disease and eosinophilic gastroenteritis usually show specific histological features such as intestinal granuloma and eosinophil infiltrate, respectively.…”

Section: Introductionmentioning

confidence: 99%

Indolent T cell lymphoproliferative disorder with villous atrophy in small intestine diagnosed by single-balloon enteroscopy

Nagaishi

Yamada

Suzuki

et al. 2019

Clin J Gastroenterol

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Chronic diarrhea is one of the major symptoms in gastroenterology. However, this may be caused by pathologic conditions for which the diagnosis is critical. Villous atrophy, as an endoscopic lesion, accompanied by chronic diarrhea can occasionally be observed in the patients with inflammatory diseases of the gastrointestinal (GI) tract. Herein, we present a case with persistent diarrhea accompanied by intestinal wall thickening without any other significant endoscopic features other than villous atrophy in the jejunum and the ileum, where we diagnosed as an indolent T cell lymphoproliferative disorder (T-LPD) of the GI tract, defined in the 2016–2017 revised World Health Organization classification, via single-balloon enteroscopy (SBE). Interestingly, we found the same lymphocyte infiltration from the distal third portion of the duodenum, where gastroscopy could not reach, via SBE, even though no endoscopic findings were observed such as villous atrophy. Since infiltrating cells in the intestinal tissues were CCR4+, mogamulizumab was administered with resulting durable symptomatic remission for more than 2 years. Patients with persistent diarrhea may have serious small intestinal disorder including not only chronic inflammatory diseases but also lymphoid neoplasmic conditions including T-LPD of GI tract.

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Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

Cited by 13 publications

References 18 publications

Endoscopic Findings of Children with Familial Mediterranean Fever

Endoscopic Findings of Children with Familial Mediterranean Fever

Familial Mediterranean fever mimicking Crohn disease

Indolent T cell lymphoproliferative disorder with villous atrophy in small intestine diagnosed by single-balloon enteroscopy

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