Titre
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Auteur(s)
Elhani, I.
Auteure/Auteur
Backes, S.
Auteure/Auteur
Kallinich, T.
Auteure/Auteur
Amaryan, G.
Auteure/Auteur
Belot, A.
Auteure/Auteur
Berendes, R.
Auteure/Auteur
Berger, T.
Auteure/Auteur
Dressler, F.
Auteure/Auteur
Foell, D.
Auteure/Auteur
Fühner, S.
Auteure/Auteur
Giese, A.
Auteure/Auteur
Hinze, C.
Auteure/Auteur
Hitzegrad, A.L.
Auteure/Auteur
Horneff, G.
Auteure/Auteur
Jansson, A.
Auteure/Auteur
Klotsche, J.
Auteure/Auteur
Lainka, E.
Auteure/Auteur
Niehues, T.
Auteure/Auteur
Oommen, P.
Auteure/Auteur
Haas, J.P.
Auteure/Auteur
Rietschel, C.
Auteure/Auteur
Theodoropoulo, K.
Auteure/Auteur
Vinit, C.
Auteure/Auteur
Weissbarth-Riedel, E.
Auteure/Auteur
Hentgen, V.
Auteure/Auteur
Wittkowski, H.
Auteure/Auteur
Liens vers les unités
ISSN
2056-5933
Statut éditorial
Publié
Date de publication
2024-11-24
Volume
10
Numéro
4
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Familial Mediterranean fever (FMF) is a genetic disease leading to recurrent episodes of inflammation. Two pathogenic variants are required for classical disease, but the disease can occur in heterozygous patients. Patients are treated continuously with colchicine to prevent amyloid A (AA) amyloidosis, including heterozygous patients who display a moderate form of FMF and rarely develop AA amyloidosis. The need for lifelong colchicine treatment in heterozygous FMF is therefore controversial. We aimed to characterise genotype-specific levels of inflammatory biomarkers, and to focus on heterozygous patients who discontinued colchicine.
All patients with FMF from the European databases AIDnet and JIRcohort who received colchicine during follow-up were included. Demographics, C reactive protein (CRP), serum amyloid A (SAA), S100A8/A9 and S100A12 levels, leucocyte and neutrophil counts were extracted. Visits were classified as active, subclinical or inactive according to symptoms, CRP and SAA levels.
Data from 747 patients were extracted (233 homozygous, 201 compound heterozygous, 224 heterozygous patients, 49 heterozygous with one class III variant and 40 compound heterozygous with two class III variants). During active visits, all biomarker levels were higher compared with inactive visits (p<0.001). Heterozygous patients showed lower levels of CRP, SAA, S100A8/A9 and S100A12 during inactive and subclinical visits than patients with two class IV-V variants. Colchicine was discontinued in 52 heterozygous patients and reintroduced in 23 of them (44%).
S100A8/A9 and S100A12 proteins are biomarkers that can be used to assess disease activity. Heterozygous patients have lower levels of inflammatory biomarkers and some of them can sustainably discontinue colchicine treatment.
All patients with FMF from the European databases AIDnet and JIRcohort who received colchicine during follow-up were included. Demographics, C reactive protein (CRP), serum amyloid A (SAA), S100A8/A9 and S100A12 levels, leucocyte and neutrophil counts were extracted. Visits were classified as active, subclinical or inactive according to symptoms, CRP and SAA levels.
Data from 747 patients were extracted (233 homozygous, 201 compound heterozygous, 224 heterozygous patients, 49 heterozygous with one class III variant and 40 compound heterozygous with two class III variants). During active visits, all biomarker levels were higher compared with inactive visits (p<0.001). Heterozygous patients showed lower levels of CRP, SAA, S100A8/A9 and S100A12 during inactive and subclinical visits than patients with two class IV-V variants. Colchicine was discontinued in 52 heterozygous patients and reintroduced in 23 of them (44%).
S100A8/A9 and S100A12 proteins are biomarkers that can be used to assess disease activity. Heterozygous patients have lower levels of inflammatory biomarkers and some of them can sustainably discontinue colchicine treatment.
Sujets
PID Serval
serval:BIB_0F386CCC9A0B
PMID
Open Access
Oui
Date de création
2024-12-02T12:56:19.678Z
Date de création dans IRIS
2025-05-20T13:47:33Z
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Nom
39581688_BIB_0F386CCC9A0B.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by-nc/4.0
Taille
1.7 MB
Format
Adobe PDF
PID Serval
serval:BIB_0F386CCC9A0B.P001
URN
urn:nbn:ch:serval-BIB_0F386CCC9A0B2
Somme de contrôle
(MD5):15b4276493c19c3e4b479d4547078304