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

Digestion ◽  
2019 ◽  
Vol 101 (6) ◽  
pp. 785-793 ◽  
Author(s):  
Daisuke Saito ◽  
Noritaka Hibi ◽  
Ryo Ozaki ◽  
Oki Kikuchi ◽  
Taro Sato ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Periodic Fever ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
University Hospital ◽  
Mucosal Inflammation ◽  
Inflammatory Bowel

<b><i>Background and Aims:</i></b> Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An <i>MEFV</i> 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 <i>MEFV</i> gene mutations. <b><i>Methods:</i></b> <i>MEFV</i> 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. <b><i>Results:</i></b> 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 (<i>n</i> = 8, 100%), hematochezia (<i>n</i> = 3, 37.5%), abdominal pain (<i>n</i> = 3, 37.5%), high fever (<i>n</i> = 2, 16.5%), and other periodic symptoms (<i>n</i> = 2, 16.5%). <i>MEFV</i> 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 <i>MEFV</i> mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine. <b><i>Conclusions:</i></b> Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.

scholarly journals Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
S. Sahin ◽  
D. Gulec ◽  
S. Günay ◽  
C. Cekic
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Clinical Effects ◽  
Mediterranean Fever ◽  
Inflammatory Bowel ◽  
The Relationship ◽  
Mefv Gene Mutation

Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. Methods. DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. Results. We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn’s disease (CD)) and 60 healthy individuals as controls. The frequency of MEFV gene mutation was 26.7% ( n = 12 ) and 14.5% ( n = 8 ) for UC and CD, respectively. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics ( p = 0.446 ; p = 0.708 ; p > 0.999 , resp.); however, in UC, the need for surgery in those with mutation ( p = 0.018 ) and E148Q mutation alone was significant ( p = 0.037 ). Conclusion. The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered.

T1278 MEFV Gene Mutations and Inflammatory Bowel Disease: Is There Any Effect?

2008 ◽  
Vol 134 (4) ◽  
pp. A-521-A-522
Author(s):  
Filiz Akyuz ◽  
Fatih Besisik ◽  
Binnur Pinarbasi ◽  
Kadir Demir ◽  
Sabahattin Kaymakoglu ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Inflammatory Bowel

Detection of MEFV Gene Mutations in Patients with Inflammatory Bowel Disease

2009 ◽  
Vol 13 (1) ◽  
pp. 87-90 ◽  
Author(s):  
Erkan Yurtcu ◽  
Hale Gokcan ◽  
Ugur Yilmaz ◽  
Feride Iffet Sahin
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Inflammatory Bowel

Tu1818 - Vitamin a Modulates Mucosal Inflammation by Augmenting Th1/Th17 Differentiation in Inflammatory Bowel Disease

2018 ◽  
Vol 154 (6) ◽  
pp. S-1028
Author(s):  
Ritika Rampal ◽  
Mohamad Nahidul Wari ◽  
Amit K. Singh ◽  
Ujjwal K. Das ◽  
Sawan Bopanna ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Vitamin A ◽  
Bowel Disease ◽  
Mucosal Inflammation ◽  
Inflammatory Bowel ◽  
Th17 Differentiation

Systemic lupus erythematosus with inflammatory bowel disease-ulcerative colitis: case report

Lupus ◽  
2018 ◽  
Vol 27 (7) ◽  
pp. 1198-1201
Author(s):  
H Elsayed Mansour ◽  
S Gamal Arafa ◽  
W Abdelfatah Shehata
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Ulcerative Colitis ◽  
Inflammatory Bowel Disease ◽  
Lupus Erythematosus ◽  
Bowel Disease ◽  
University Hospital ◽  
Small Vessel Vasculitis ◽  
Antibody Testing ◽  
Systemic Lupus ◽  
Inflammatory Bowel

A 30-year-old female presented to the rheumatology outpatient clinic of the Internal Medicine Department, Ain Shams University Hospital, Cairo, Egypt, complaining of a large right leg ulcer consistent with pyoderma gangrenosum. There was history of recurrent attacks of bleeding per rectum of one-year duration. During hospitalization she noticed blurring of vision in the left eye with diffuse blackish discoloration of the feet and toes, consistent with small-vessel vasculitis. Colonoscopy with biopsy and histopathology confirmed the diagnosis of inflammatory bowel disease-ulcerative colitis (IBD-UC). Meanwhile, the patient fulfilled the SLICC classification criteria for systemic lupus erythematosus (SLE): recurrent oral ulcers, positive antinuclear antibody testing, proteinuria >0.5 gm/24-hour urine, positive test for lupus anticoagulant and consumed C3 complement component. Herein we report a rare case of coexistence of SLE and IBD-UC.

Role of Epithelial-to-Mesenchymal Transition in Inflammatory Bowel Disease

2018 ◽  
Vol 13 (5) ◽  
pp. 659-668 ◽  
Author(s):  
Sara Lovisa ◽  
Giannicola Genovese ◽  
Silvio Danese
Keyword(s):  
Inflammatory Bowel Disease ◽  
Wound Healing ◽  
Bowel Disease ◽  
Molecular Mechanisms ◽  
Epithelial To Mesenchymal Transition ◽  
Clinical Manifestations ◽  
Mesenchymal Transition ◽  
Intestinal Fibrosis ◽  
Inflammatory Bowel

Abstract Intestinal fibrosis is an inevitable complication in patients with inflammatory bowel disease [IBD], occurring in its two major clinical manifestations: ulcerative colitis and Crohn’s disease. Fibrosis represents the final outcome of the host reaction to persistent inflammation, which triggers a prolonged wound healing response resulting in the excessive deposition of extracellular matrix, eventually leading to intestinal dysfunction. The process of epithelial-to-mesenchymal transition [EMT] represents an embryonic program relaunched during wound healing, fibrosis and cancer. Here we discuss the initial observations and the most recent findings highlighting the role of EMT in IBD-associated intestinal fibrosis and fistulae formation. In addition, we briefly review knowledge on the cognate process of endothelial-to-mesenchymal transition [EndMT]. Understanding EMT functionality and the molecular mechanisms underlying the activation of this mesenchymal programme will permit designing new therapeutic strategies to halt the fibrogenic response in the intestine.

scholarly journals An investigation of the association of the prothrombin gene mutation and inflammatory bowel disease

2000 ◽  
Vol 118 (4) ◽  
pp. A1345
Author(s):  
Neil Haslam ◽  
Standen R. Graham ◽  
Jonathon L. Brown ◽  
Roland M. Valori ◽  
Christopher S. Probert
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Prothrombin Gene Mutation ◽  
Inflammatory Bowel ◽  
Prothrombin Gene

scholarly journals Factors affecting clinical decision-making in inflammatory bowel disease and the role of point-of-care calprotectin

2018 ◽  
Vol 11 ◽  
pp. 1756283X1774473 ◽  
Author(s):  
Yannick Derwa ◽  
Christopher J.M. Williams ◽  
Ruchit Sood ◽  
Saqib Mumtaz ◽  
M. Hassan Bholah ◽  
...  
Keyword(s):  
Decision Making ◽  
Inflammatory Bowel Disease ◽  
Disease Activity ◽  
Medical Therapy ◽  
Bowel Disease ◽  
Clinical Decision Making ◽  
Point Of Care ◽  
Clinical Decision ◽  
Mucosal Inflammation ◽  
Inflammatory Bowel

Objectives: Patient-reported symptoms correlate poorly with mucosal inflammation. Clinical decision-making may, therefore, not be based on objective evidence of disease activity. We conducted a study to determine factors associated with clinical decision-making in a secondary care inflammatory bowel disease (IBD) population, using a cross-sectional design. Methods: Decisions to request investigations or escalate medical therapy were recorded from outpatient clinic encounters in a cohort of 276 patients with ulcerative colitis (UC) or Crohn’s disease (CD). Disease activity was assessed using clinical indices, self-reported flare and faecal calprotectin ≥ 250 µg/g. Demographic, disease-related and psychological factors were assessed using validated questionnaires. Logistic regression was performed to determine the association between clinical decision-making and symptoms, mucosal inflammation and psychological comorbidity. Results: Self-reported flare was associated with requesting investigations in CD [odds ratio (OR) 5.57; 95% confidence interval (CI) 1.84–17.0] and UC (OR 10.8; 95% CI 1.8–64.3), but mucosal inflammation was not (OR 1.62; 95% CI 0.49–5.39; and OR 0.21; 95% CI 0.21–1.05, respectively). Self-reported flare (OR 7.96; 95% CI 1.84–34.4), but not mucosal inflammation (OR 1.67; 95% CI 0.46–6.13) in CD, and clinical disease activity (OR 10.36; 95% CI 2.47–43.5) and mucosal inflammation (OR 4.26; 95% CI 1.28–14.2) in UC were associated with escalation of medical therapy. Almost 60% of patients referred for investigation had no evidence of mucosal inflammation. Conclusions: Apart from escalation of medical therapy in UC, clinical decision-making was not associated with mucosal inflammation in IBD. The use of point-of-care calprotectin testing may aid clinical decision-making, improve resource allocation and reduce costs in IBD.

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