Abstract:In this report, we described 11 patients who presented with gastrointestinal symptoms and eventually diagnosed as having FMF. Gastrointestinal mucosal involvement without amyloidosis is documented by endoscopic and histopathologic investigations in these patients. We concluded that mucosal involvement of the gastrointestinal tract may be attack-related manifestations in these patients.
“…2 Although only a few endoscopic findings have been reported, colonoscopy revealed hyperemia, fragility, and patchy ulcerations with white exudate in the large intestinal mucosa. 3 To our knowledge, this case report is the first study to describe observations for the small intestine, which, because they are similar to the findings for the large intestine described previously, indicate that CE and DBE are useful in the diagnosis of FMF.…”
Section: Answer To the Clinical Challenges And Images In Gi Question:supporting
“…2 Although only a few endoscopic findings have been reported, colonoscopy revealed hyperemia, fragility, and patchy ulcerations with white exudate in the large intestinal mucosa. 3 To our knowledge, this case report is the first study to describe observations for the small intestine, which, because they are similar to the findings for the large intestine described previously, indicate that CE and DBE are useful in the diagnosis of FMF.…”
Section: Answer To the Clinical Challenges And Images In Gi Question:supporting
“…The only endoscopic investigation aiming to detect FMF-related gastrointestinal lesions was reported in a small pediatric cohort by Gurkan et al [9]. They showed colonic inflammation and multiple gastric aphthous ulcerations without amyloid infiltration by gastroscopy and colonoscopy in 11 out of 36 pediatric FMF patients with gastrointestinal symptoms, and they concluded that mucosal involvement of the gastrointestinal tract may be attack-related manifestations in these patients.…”
Mucosal defect was observed in half of the FMF patients, which may be associated with underlying inflammation or chronic colchicine exposure. Detection of nonspecific chronic inflammation without mitotic changes supports that mucosal defects may be associated with the autoinflammatory process.
“…But these procedures may only help clinical assessments during diagnosis of FMF . Furthermore, FMF patients had nonspecific findings in screening tests . However, up to now, these have not been given as much weight as clinical features.…”
MEFV gene assessment, unlike other diagnostic procedures, might support physicians in the early diagnosis of FMF. Especially in atypical cases, MEFV gene assessment might be considered for diagnosis of FMF.
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