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Periodic fever syndromes: beyond the single gene paradigm.

Abstract：

:Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease in Canada and is characterized by a clinical syndrome of episodic inflammatory symptoms. Traditionally, the disease is defined by autosomal recessive inheritance of MEFV gene variants, yet FMF also not uncommonly manifests in individuals with only one identified disease-associated allele. Increasing availability and affordability of gene sequencing has led to the identification of multiple MEFV variants; however, they are often of unknown clinical significance. Variants in other genes affecting overlapping or distinct inflammatory signaling pathways - together with gene-environment interactions including epigenetic modulation - likely underlie the significant genetic and phenotypic heterogeneity seen among patients with this disease. We review recent evidence of the expanding spectrum of FMF genotype and phenotype and suggest that current drug funding schemes restricting biologic agents to patients with homozygous mutations have not kept pace with our biological understanding of the disease.

journal_name

Pediatr Rheumatol Online J

journal_title

Pediatric rheumatology online journal

authors

Westwell-Roper C,Niemietz I,Tucker LB,Brown KL

doi

10.1186/s12969-019-0324-7

subject

Has Abstract

pub_date

2019-05-14 00:00:00

pages

22

issue

1

issn

1546-0096

pii

10.1186/s12969-019-0324-7

journal_volume

17

pub_type

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