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Familial Mediterranean Fever

Abstract

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NORD is very grateful to Isabelle Touitou, MD, PhD, Unite Medicale des Maladies Auto-Inflammatoires, Hopital Arnaud de Villeneuve, Montpellier, France, for assistance in the preparation of this report.

Synonyms of Familial Mediterranean Fever

  • familial paroxysmal polyserositis
  • FMF
  • recurrent polyserositis

Disorder Subdivisions

  • familial Mediterranean fever type 1
  • familial Mediterranean fever type 2

General Discussion

Summary
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes (attacks) of fever and acute inflammation of the membranes lining the abdomen, joints, and lungs. In some cases, affected individuals may develop skin rashes (erysipelas like erythema) affecting the lower legs. Less often, inflammation of the membrane lining the heart or covering the brain and spinal cord may occur. Some individuals may develop a serious condition known as amyloidosis, in which certain proteins called amyloid accumulates in various tissues of the body. In FMF, amyloid accumulates in the kidneys (renal amyloidosis) where it can impair kidney function potentially result in life-threatening complications such as kidney failure. The specific symptoms and severity of FMF are highly variable. Some individuals develop amyloidosis, but none of the other symptoms associated with FMF. These cases are sometimes referred to as FMF type 2. FMF is caused by mutations of the pyrin (MEFV) gene and is inherited as an autosomal recessive trait.

Introduction
FMF is classified as an autoinflammatory syndrome. Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate immune system. They are not the same as autoimmune syndromes, in which the adaptive immune system malfunctions and mistakenly attacks healthy tissue. FMF is the most common autoinflammatory syndrome. It is also classified as a hereditary periodic fever syndrome.

Organizations related to Familial Mediterranean Fever

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

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