A score for predicting colchicine resistance at the time of diagnosis in familial Mediterranean fever: data from the TURPAID registry.

Abstract

OBJECTIVES:

Colchicine forms the mainstay of treatment in familial Mediterranean fever (FMF). Around 5-10% of FMF patients are colchicine resistant and require anti-interleukin-1 drugs. We aimed to compare the characteristics of colchicine-resistant and colchicine-responsive patients and to develop a score for predicting colchicine resistance at the time of FMF diagnosis.

METHODS:

FMF patients (0-18 years) enrolled in the TURPAID (Turkish Pediatric Autoinflammatory Diseases) registry were included. The predictive score for colchicine resistance was developed by using univariate/multivariate regression and ROC analyses.

RESULTS:

A total of 3445 FMF patients (256 [7.4%] colchicine-resistant and 3189 colchicine-responsive) were included (F/M = 1.02; median age at diagnosis 67.4 months). Colchicine-resistant patients had longer, more frequent attacks and were younger at symptom onset and diagnosis (p< 0.05). Fever, erysipelas-like erythema, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, chest pain, comorbidities, parental consanguinity, and homozygosity/compound heterozygosity for exon 10 MEFV mutations were significantly more prevalent among colchicine-resistant than colchicine-responsive patients (p< 0.05). Multivariate logistic regression analysis in the training cohort (n = 2684) showed that age at symptom onset, attack frequency, arthritis, chest pain, and having two exon 10 mutations were the strongest predictors of colchicine resistance. The score including these items had a sensitivity of 81.3% and a specificity of 49.1%. In the validation cohort (n = 671), its sensitivity was 93.5% and specificity was 53.8%.

CONCLUSION:

We have developed a clinician-friendly and practical predictive score which could help us to identify FMF patients with a greater risk of colchicine resistance and tailor disease management individually at the time of diagnosis.

• Authors: Ezgi Deniz Batu, Seher Şener, Elif Arslanoglu Aydin, Emil Aliyev, İlknur Bagrul, Şeyma Türkmen, Özlem Akgün, Zeynep Balık, Ayşe Tanatar, Yağmur Bayındır, Zehra Kızıldağ, Rüya Torun, Aybüke Günalp, Taner Coşkuner, Rana İşgüder, Tuncay Aydın, Fatih Haşlak, Müşerref Kasap Cüceoğlu, Esra Esen, Ulaş Akçay, Özge Başaran, Aysenur Pac Kısaarslan, Fuat Akal, Deniz Yüce, Semanur Özdel, Mehmet Bülbül, Yelda Bilginer, Nuray Aktay Ayaz, Betül Sözeri, Özgür Kasapçopur, Erbil Ünsal, Seza Özen
• Journal: Rheumatology (Oxford, England) (Rheumatology (Oxford)) (May 25 2023) ISSN: 1462-0332 [Electronic] England
• PMID: 37228026 (Publication Type: Journal Article)
• Copyright: © The Author(s) 2023. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: [email protected].