ReviewFamilial Mediterranean fever: New phenotypes
Section snippets
Familial Mediterranean fever (FMF): definition and diagnostic criteria
Familial Mediterranean fever (FMF, OMIM ID: 249100) is an autosomal recessive disease characterized by recurring self-limited short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles; it is the most common of the periodic hereditary fevers.
FMF mainly affects Middle Eastern populations and other ethnic groups living around the Mediterranean basin, such as Jews, Armenians, Turks, Arabs, with high prevalence (1/200–1/1000); also, it is not considered rare
The FMF phenotypes
Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of amyloidosis as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the ‘silent’ homozygous or compound heterozygote state, in which two
Our experience
Since 1990s the Periodic Fevers Research Centre of Catholic University of Sacred Heart of Rome had dedicated its attention to the diagnosis and treatment of patients with periodic autoinflammatory syndromes, accruing a patients experience of more than 1100 individuals and providing us an extensive clinical familiarity with these conditions.
Since 1998 to 2011, among all patients evaluated in our Centre for fever of unknown origin (FUO), 311 (163 M: 148 F) received certain diagnosis of FMF,
Conclusions
As diagnosis of FMF is clinical, an accurate clinical history, together with the monitoring of disease activity through the parameters of inflammation (CRP, SAA, ESR, fibrinogen, white blood cell count), is pivotal for the clinician to determine a correct diagnosis in suspected cases of FMF.
The awareness of FMF prevalence in the population as well as the presence of referee Centers with expert-field clinicians, have a major role to achieve an early diagnosis and thus, to shorten the diagnostic
Take-home messages
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FMF is an autosomal recessive disease caused by MEFV gene mutations on chromosome 16
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The identification of MEFV mutations contribute to the different FMF phenotype diagnosis.
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MEFV mutation may aggravate the autoimmune disease course and influence the therapy.
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There are variable penetrance and expression of FMF, also in heterozygous subjects.
Conflict of interest statement
The authors deny any financial and personal relationships with other people or organizations that could inappropriately influence the content of this article.
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