ArticleOrphanet journal of rare diseases2015
Familial Mediterranean fever without MEFV mutations: a case-control study.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- [Results of the systematic literature search as basis for the "Evidence-based treatment recommendations for familial Mediterranean fever patients with insufficient response or intolerability to colchicine" of the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology].Zeitschrift fur Rheumatologie · 2020Pooled it
- Cachexia as an unusual presentation of familial Mediterranean fever: A case report.World journal of clinical cases · 2026Article
- Anesthetic Management of a Dental Patient With Familial Mediterranean Fever.Anesthesia progress · 2025Article
- Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.Clinical and experimental medicine · 2025Article
- Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers.Journal of clinical immunology · 2024Article
- Article
- Evaluation of retinal and optic disc vascular structures in patients with familial Mediterranean fever (FMF) via optical coherence tomography angiography.International ophthalmology · 2023Article
- Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.Pediatric rheumatology online journal · 2023Article
- A private hospital's approach to treating acute familial Mediterranean fever in Dar es Salaam.SAGE open medical case reports · 2023Article
- Screening for Fabry's disease in a high-risk subpopulation of FMF.European journal of medical research · 2022Article
- The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.International journal of molecular sciences · 2022Review
- Transient and Recurrent Pulmonary Infiltrations Associated with Familial Mediterranean Fever.Internal medicine (Tokyo, Japan) · 2022Article
- Colchicine - an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants.Pediatric rheumatology online journal · 2021Article
- A case report of a boy suffering from type 1 diabetes mellitus and familial Mediterranean fever.Italian journal of pediatrics · 2021Article
- Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.Rheumatology international · 2021Observational
- Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.Frontiers in pediatrics · 2021Article
- Familial Mediterranean fever, from pathogenesis to treatment: a contemporary reviewTurkish journal of medical sciences · 2020Review
- Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.Journal of cellular and molecular medicine · 2020Article
- Autoinflammatory Diseases in ChildhoodBalkan medical journal · 2020Article
- Complexity of familial Mediterranean fever genetics.European journal of rheumatology · 2020Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this subset.
methodsMEFV mutation-negative FMF and control patients were recruited randomly from a cohort followed in a dedicated FMF clinic. The control subjects comprised 2 groups: 1. typical population of FMF, consisting of genetically heterogeneous patients manifesting the classical spectrum of FMF phenotype and 2. a severe phenotype of FMF, consisting of FMF patients homozygous for the p.M694V mutation.
resultsForty-seven genetic-negative, 60 genetically heterogeneous and 57 p.M694V homozygous FMF patients were enrolled to the study. MEFV-mutation negative FMF patients showed a phenotype closely resembling that of the other 2 populations. It differed however from the p.M694V homozygous subset by its milder severity (using Mor et al. scoring method), as determined by the lower proportion of patients with chest and erysipelas like attacks, lower frequency of some of the chronic manifestations, lower colchicine dose and older age of disease onset.
conclusionsMEFV mutation-negative FMF by virtue of its classical FMF phenotype is probably associated with a genetic defect upstream or downstream to MEFV related metabolic pathway.
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