An Update on Familial Mediterranean Fever

被引：67

作者：

Lancieri, Maddalena ^{[1
]}

Bustaffa, Marta ^{[1
]}

Palmeri, Serena ^{[1
]}

Prigione, Ignazia ^{[1
]}

Penco, Federica ^{[1
]}

Papa, Riccardo ^{[1
]}

Volpi, Stefano ^{[1
]}

Caorsi, Roberta ^{[1
]}

Gattorno, Marco ^{[1
]}

机构：

[1] IRCCS Ist Giannina Gaslini, UOC Malattie Autoinfiammatorie & Immunodeficenze, I-16147 Genoa, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2023年 / 24卷 / 11期

关键词：

Familial Mediterranean Fever; colchicine; colchicine resistance; children; autoinflammatory disease; Interlukin-1; Inhibitors; COLCHICINE-RESISTANT; AUTOINFLAMMATORY DISEASES; DIAGNOSTIC-CRITERIA; PYRIN INFLAMMASOME; ENDOTHELIAL-CELLS; GENETIC DIAGNOSIS; PERIODIC FEVER; MEFV MUTATIONS; CHILDREN; FMF;

D O I：

10.3390/ijms24119584

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

(1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation. (2) Methods: In this study we look at the most recent literature on this condition and integrate it with novel information on treatment resistance and compliance. (3) Results: The canonical clinical presentation of FMF is in children with self-limited episodes of fever and polyserositis, associated with severe long-term complications, such as renal amyloidosis. It has been described anecdotally since ancient times, however only recently it has been characterized more accurately. We propose an updated overview on the main aspects of pathophysiology, genetics, diagnosis and treatment of this intriguing disease. (4) Conclusions: Overall, this review presents the all the main aspects, including real life outcome of the latest recommendation on treatment resistance of FMF, a disease, that not only helped understanding the pathophysiology of the auto inflammatory process but also the functioning of the innate immune system itself.

引用

页数：24

共 154 条

[1] Association of Vasculitis and Familial Mediterranean Fever [J].