Abdominal and Digestive System Associations of Familial Mediterranean Fever

Abstract

Familial Mediterranean fever (FMF) is a hereditary episodic febrile syndrome that is expressed by acute spells of fever, painful manifestations in the abdomen, chest and joints, and slow development of nephropathic amyloidosis. Despite the recent cloning of the FMF gene (MEFV) and the identification of about 40 disease-related mutations, the diagnosis is still clinically dependent, and the pathogenesis and most of the clinical heterogeneity remain to be explained. Because episodic abdominal pain affects 95% of FMF patients, most of them are seen by gastroenterologists and undergo complete or partial abdominal imaging before the diagnosis is made. Focusing on recent advances in FMF, this article reviews both common and infrequent manifestations that a gastroenterologist may encounter during workups of FMF patients. These include episodic abdominal pain, paralytic or mechanical ileus, constipation, diarrhea, ascites, malabsorption, bowel infarction, and bleeding, arising directly from FMF or secondary to FMF common associations such as amyloidosis, vasculitides, inflammatory bowel disease, irritable bowel syndrome, or colchicine side effects. This article will help the gastroenterologist to cope with most clinical situations related to the abdominal and alimentary tract in patients with FMF.

A rare cause of massive ascites: Familial Mediterranean fever

“…The abdominal pain can range from mild to severe and may be diffused or localized (4). Apart from abdominal pain, FMF patients may present with a variety of abdominal manifestations during acute attacks, such as acute peritonitis, mechanical intestinal obstruction, diarrhea, bowel infarction, bleeding, inflammatory bowel disease, amyloidosis, and small amounts of peritoneal fluid (5). Recurrent attacks of peritonitis may lead to adhesions.…”

A Disease Must Be Considered in the Differential Diagnosis of Ascites: Familial Mediterranean Fever

“…Chronic ascites has rarely been described in patients with FMF [1,4,5] . Small amounts of peritoneal fluid are often seen at laparoscopy or at radiological imaging techniques such as ultrasonography or CT of FMF patients [6] .…”

Atypical Presentation of a Familial Mediterranean Fever Case: Case Report

“…Although very rare it can proceed with chronic arthritis or sacroiliitis and cause damage to hip joint. 6 Chronic hip joint involvement is characterized with repetetive or prolonged attacks. Limitation of range of motion in the joint is very common, but the degree of functional impairment is variable.…”