Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder

Portincasa, Piero; Scaccianoce, Giuseppe; Palasciano, Giuseppe

doi:10.1111/eci.12170

Cited by 41 publications

(29 citation statements)

References 114 publications

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“…It is characterized by recurrent and self-limited episodes of fever and painful serositis, related to neutrophil activation at serosal surfaces. It affects predominantly ethnic groups around the Mediterranean basin [74]. Colchicine represents the standard first line treatment for FMF and has to be continued for life.…”

Section: Resultsmentioning

confidence: 99%

Colchicine—Update on mechanisms of action and therapeutic uses

Leung

Hui

Kraus

2015

Seminars in Arthritis and Rheumatism

719

559

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Objectives To review the literature and provide an updates on the mechanisms of action and therapeutic uses of oral colchicine in arthritis and inflammatory conditions. Methods We performed PubMed database searches through June 2014 for relevant studies in the English literature published since the last update of colchicine in 2008. Searches encompassed colchicine mechanisms of action and clinical applications in medical conditions. A total of 381 articles were reviewed. Results The primary mechanism of action of colchicine is tubulin disruption. This leads to subsequent down regulation of multiple inflammatory pathways and modulation of innate immunity. Newly described mechanisms include various inhibitory effects on macrophages including the inhibition of the NACHT-LRRPYD-containing protein 3 (NALP3) inflammasome, inhibition of pore formation activated by purinergic receptors P2X7 and P2X2, and stimulation of dendritic cell maturation and antigen presentation. Colchicine also has anti-fibrotic activities and various effects on endothelial function. The therapeutic use of colchicine has extended beyond gouty arthritis and Familial Mediterranean Fever, to osteoarthritis, pericarditis and atherosclerosis. Conclusion Further understanding of the mechanisms of action underlying the therapeutic efficacy of colchicine will lead to its potential use in a variety of conditions.

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Section: Resultsmentioning

confidence: 99%

Colchicine—Update on mechanisms of action and therapeutic uses

Leung

Hui

Kraus

2015

Seminars in Arthritis and Rheumatism

719

559

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“…44 Familial Mediterranean fever is caused by mutations in the gene for pyrin, a myeloid-lineage protein that regulates inflammasome activation. 45–48 Pyrin gene mutations lower the threshold for IL-1β production and inflammatory attacks.…”

Section: Colchicine In Rheumatic Diseasesmentioning

confidence: 99%

Colchicine: Old and New

Slobodnick

Shah

Pillinger

et al. 2015

The American Journal of Medicine

260

158

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Although colchicine has been a focus of research, debate and controversy for thousands of years, it was only approved by the United States Food and Drug Administration in 2009. Over the past decade, advances in the knowledge of colchicine pharmacology, drug safety and mechanisms of action have led to changes in colchicine dosing and to potential new uses for this very old drug. In this review, we discuss the pharmacologic properties of colchicine and summarize what is currently known about its mechanisms of action. We then discuss and update the use of colchicine in a variety of illnesses, including rheumatic and, most recently cardiovascular diseases.

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“…32 None of our FMF patients were resistant to colchicine treatment although previous studies suggested that 10% to 15% of FMF patients have resistance to colchicine treatment. 33,34 Well-controlled disease with colchicine treatment might have resulted in suppression of the auto-inflammation, thus the need of carnitine. Also, insidious skeletal muscle damage might have resulted in elevated FC levels in FMF patients.…”

Section: Discussionmentioning

confidence: 99%

Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever

et al. 2016

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Objectives:This study aims to demonstrate the patterns of free carnitine (FC) and acylcarnitine (AC) esters in familial Mediterranean fever (FMF) patients. Patients and methods: A total of 205 patients (106 males, 99 females; mean age 131.3±52.1 months; range 24 to 254 months) with FMF and 50 healthy controls (27 males, 23 females; mean age 125.7±49.6 months; range 32 to 217 months) were enrolled. Fasting dried blood samples were taken for showing FC and AC ester levels with tandem mass spectrometry from both patients and controls. Results: Screening of AC profile revealed increased FC, 3-hydroxypalmitoylcarnitine (C16-OH), and 3-Hydroxy octadecanoylcarnitine (C18:2-OH) carnitine levels, while decreased acetyl-carnitine (C2), propionyl-carnitine (C3), butyryl-carnitine (C4), tiglyl-carnitine (C5:1), hexanoyl-carnitine (C6), octanoyl-carnitine (C8), decenoylcarnitine (C10:1), decadienoylcarnitine (C10:2), malonylcarnitine (C3DC), methylmalonylcarnitine (C4DC), glutarylcarnitine (C5DC), hexadecenoylcarnitine (C16:1), 3-Hydroxy butyrylcarnitine (C4-OH), and 3-Hydroxy oleylcarnitine (C18:1-OH) carnitine levels in FMF patients compared to controls. Total AC levels (p<0.001) and AC to FC ratio (p<0.001) were also lower in FMF patients than the controls. Conclusion: In this study, we were able to detect some of the AC profile variations in FMF patients; however, usage of carnitine in all patients with FMF is not recommended since we were not able to demonstrate secondary carnitine deficiency in FMF patients of this study.

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Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder

Cited by 41 publications

References 114 publications

Colchicine—Update on mechanisms of action and therapeutic uses

Colchicine—Update on mechanisms of action and therapeutic uses

Colchicine: Old and New

Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever

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