An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

Abstract

We herein describe the case of a 25-year-old woman who suffered from atypical familial Mediterranean fever for more than a decade. She presented with a periodic fever, abdominal pain and persistent ulcers in the terminal ileum. Colchicine was effective, and familial Mediterranean fever was diagnosed. A genetic study showed a heterozygous E148Q mutation in the MEFV gene. Multiple, recurrent, abscess-like lesions developed asynchronously in the spleen, liver, and a lung. Infliximab was administered when colchicine treatment became ineffective. However, infliximab treatment soon became ineffective, probably because antibodies were generated against it. Therefore, etanercept treatment was started, and the patient showed an immediate response.

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

“…2 As for the small bowel, however, mild mucosal lesions such as hyperemia and shallow ulcers only have been reported so far. [3][4][5] The present case demonstrates pseudopolyposis-like lesions as found in the case with colonic involvement, 2 and FMF needs to be considered as a cause of small intestinal pseudopolyposis.…”

“…Although rare, it has been recently recognized that FMF can cause gastrointestinal involvement mimicking inflammatory bowel disease . As for the small bowel, however, mild mucosal lesions such as hyperemia and shallow ulcers only have been reported so far . The present case demonstrates pseudopolyposis‐like lesions as found in the case with colonic involvement, and FMF needs to be considered as a cause of small intestinal pseudopolyposis.…”

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

“…There is a report of a shallow ulcer in the terminal ileum with non-specific inflammation on a histopathological examination (8). In the current case, the specific endoscopic findings of petal-shaped mucosal redness with white hemming were not observed in the terminal ileum 15 cm from the ileocecal valve, and peritonitis was noted around the jejunum and ileum based on the findings of the physical examination of abdominal tenderness and abdominal CT.…”

“…Meanwhile, colchicine was effective in 91.8% of the patients at a relatively low dose, and amyloidosis was confirmed in five patients (3.7%). There are only a few reports of endoscopic findings in such cases (6)(7)(8)(9), as the paroxysmal symptoms disappear after several days and it is difficult to perform endoscopy when the abdominal pain is very strong, particularly when using a small intestinal endoscope. Furthermore, there are currently no reports of endoscopic findings of the small intestines on capsule endoscopy (CE) and/or double-balloon endoscopy (DBE).…”

Biological Treatments: New Weapons in the Management of Monogenic Autoinflammatory Disorders

“…In such cases anti-TNF agents led to the improvement of proteinuria in those patients with a secondary amyloidosis: 2 out of 8 patients with FMF-related amyloidosis treated with infliximab have showed complete resolution of proteinuria, or proteinuria improvement in the others as well, suggesting a possible role in the control of renal disease outcome [47–51]. Loss of efficacy for colchicine was described in a 25-year-old woman, which was then treated with infliximab and then with etanercept, who had lost responsiveness to infliximab probably for the production of neutralizing anti-infliximab antibodies [52]. In other cases, anti-TNF agents have brought only a partial benefit, and resolution of symptoms was noted with anti-IL-1 agents [53].…”