ArticleRheumatology international2024
Diagnostic delays in familial Mediterranean fever: a Juvenile Inflammatory Rheumatism (JIR) cohort study.
Article in Rheumatology international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.Indian pediatrics · 2026Review
- Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre.BMC rheumatology · 2026Article
- Amyloidosis awareness and colchicine adherence in patients with familial Mediterranean fever: a cross-sectional study in an endemic region.Clinical rheumatology · 2026Article
- Colchicine resistance prediction criteria from the TURPAID cohort do not apply to the JIR cohort: a multicentre descriptive analysis.RMD open · 2026Observational
- Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions.Sage open chronic diseaseArticle
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Authors and funding
14 authors.
Funding
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Abstract
Several studies reported that Familial Mediterranean Fever (FMF) diagnosis may be missed or delayed even in countries with a high FMF prevalence. Our aim was to study on a large cohort of European FMF patients the frequency and associated factors of diagnosis delay. Clinical data were extracted from the Juvenile Inflammatory Rheumatism (JIR)-cohort. All FMF patients fulfilled Livneh Criteria and had been sequenced for MEFV exon 10. FMF-diagnostic delay (d-FMF) was defined as the duration between the onset of the symptoms and the diagnosis of more than 10 years. 960 FMF patients were enrolled: delayed diagnosis (d-FMF) was noted in 200 patients (20%). d-FMF patients were significantly older compared to non d-FMF with a median age of 46.4 years old vs. 15.5 (p < 0.0001). Women displayed more d-FMF compared to men (56 vs. 47%, p = 0.03). Clinical presentation during attacks was not statistically significant except for erysipelas-like erythema, which was higher among d-FMF patients (33 vs. 22%, p = 0.0003). The presence of one or two pathogenic MEFV mutation was not different between patients. Compared to other FMF, d-FMF patients displayed significantly more AA amyloidosis (10 vs. 2.6%, p < 0.0001) and received more biotherapy (18 vs. 3.8%, p < 0.0001). Twenty percent of FMF patients had a diagnostic delay >10 years, including more women. The differential diagnosis of abdominal attacks with menstrual pain may be an explanation, and erysipelas-like erythema may not be recognized as FMF by all practitioners.
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