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Clinical manifestations and diagnosis of familial Mediterranean fever

Author
Eldad Ben-Chetrit, MD
Section Editors
David S Pisetsky, MD, PhD
Lawrence S Friedman, MD
Deputy Editors
Monica Ramirez Curtis, MD, MPH
Shilpa Grover, MD, MPH, AGAF

INTRODUCTION

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent bouts of fever and serosal inflammation. This topic will review the clinical manifestations and diagnosis of FMF. The epidemiology, genetics, pathophysiology, and management of FMF and an overview of periodic fever syndromes and other autoinflammatory diseases can be found elsewhere. (See "Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis" and "Management of familial Mediterranean fever" and "Periodic fever syndromes and other autoinflammatory diseases: An overview".)

CLINICAL MANIFESTATIONS

Familial Mediterranean fever (FMF) is characterized by sporadic, and in most cases, recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain. Most patients with FMF experience their first attack in early childhood. The initial attack occurs before the ages of 10 and 20 years in 65 and 90 percent of cases, respectively [1]. However, in rare cases the initial attack can occur in individuals older than 50 years of age.

The onset of fever and pain (due to serositis at one or more sites) is usually abrupt, peaking soon after onset. Some patients have a stereotypic prodrome before their attacks [2]. Episodes last for one to three days and then resolve spontaneously. Patients are asymptomatic between attacks. The frequency of attacks is highly variable, even in a given patient. The intervals between episodes are irregular, ranging from one week to several months or years. Usually, FMF patients cannot describe a consistent triggering event. Nevertheless, vigorous exercise, exposure to cold, emotional stress, fatigue, surgery, and menstruation have been associated with an attack in some patients. During pregnancy, the course of FMF may worsen in about a third of the patients, improve in another third of patients, and remain unchanged in the rest [3].

Recurrent fever — Fever is one of the most constant characteristics of FMF and is present in almost all cases during attacks [4]. In the majority of FMF patients, the temperature rises from 38° to 40°C, although mild attacks may be accompanied by a subfebrile temperature (37.5° to 38°C). Typically, the duration of the fever is brief, lasting between 12 hours and three days. Fever may be the first and only symptom of FMF, especially in toddlers [5]. In FMF patients who are treated with colchicine, an acute attack may occur without fever.

Abdominal pain — In populations where FMF is common, 95 percent of the patients with FMF have episodic abdominal pain [1]. Abdominal pain and tenderness may initially be localized and then progress to become more generalized. Since the cause of the abdominal pain is inflammation of the peritoneum, signs of peritonitis such as guarding, rebound tenderness, rigidity, and an adynamic ileus are often present. These findings can be mistaken for an acute surgical abdomen leading to diagnosis delay and sometimes even to futile operations. (See "Evaluation of the adult with abdominal pain", section on 'Urgent/emergent evaluation and/or surgical abdomen'.)

                   
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Literature review current through: Sep 2017. | This topic last updated: Feb 17, 2017.
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