Review
Rheumatology
Seza Ozen
Summary: Recent studies have revealed new insights into the pathogenesis of familial Mediterranean fever, including genetic mutations conferring resistance to ancient microbial pathogens and recommendations for genetic analysis of FMF. We now have recommendations for assessing genetic analysis of the MEFV gene and how to reliably classify a patient as FMF.
CURRENT OPINION IN RHEUMATOLOGY
(2021)
Article
Immunology
Emire Seyahi, Serdal Ugurlu, Shirkhan Amikishiyev, Ahmet Gul
Summary: Behget disease (BD) and familial Mediterranean fever (FMF) are two inflammatory disorders that have common features and may occur in the same individual more commonly than expected. The pathogenic MEFV gene variants, especially p.Met694Val, have been shown to increase the risk for BD in regions where both FMF and BD are prevalent. Further exploration is needed to determine the association between these variants and specific disease subtypes, as well as their potential role in treatment planning. This review provides an overview of the plausible association between FMF and BD and the role of MEFV variants in the pathogenesis of BD.
CLINICAL IMMUNOLOGY
(2023)
Review
Rheumatology
Cengiz Korkmaz, Dondu Uskudar Cansu, Sibel Canbaz Kabay
Summary: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. FMF patients are more likely to develop inflammatory diseases such as Behcet's disease, psoriasis, and vasculitis, as well as multiple sclerosis. The coexistence of FMF and demyelinating disorders in multiple family members is rare, with only a few reported cases.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Medicine, General & Internal
Shuhei Yoshida, Yuya Sumichika, Kenji Saito, Haruki Matsumoto, Jumpei Temmoku, Yuya Fujita, Naoki Matsuoka, Tomoyuki Asano, Shuzo Sato, Kiyoshi Migita
Summary: This study investigated the clinical features and treatment response of Japanese patients with FMF. It found that colchicine was effective in the majority of patients, but some patients showed resistance to colchicine. Canakinumab showed good efficacy in colchicine-resistant patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Rheumatology
Flora Magnotti, Tiphaine Malsot, Sophie Georgin-lavialle, Fatima Abbas, Amandine Martin, Alexandre Belot, Maxime Fauter, Muriel Rabilloud, Mathieu Gerfaud-Valentin, Pascal Seve, Agnes Duquesne, Arnaud Hot, Stephane Durupt, Lea Savey, Irina Giurgea, Gilles Grateau, Thomas Henry, Yvan Jamilloux
Summary: In the study, monitoring inflammasome activation in response to UCN-01 was found to differentiate FMF patients from healthy donors and patients with other inflammatory disorders. Combining pyroptosis and IL-1 beta measurement increased the sensitivity and specificity of UCN-01-based assays for accurate FMF diagnosis. The UCN-01-triggered monocyte responses were influenced by MEFV gene dosage and mutations, similarly to clinical phenotypes.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Review
Medicine, General & Internal
Okan Aydin, Bugra Han Egeli, Huri Ozdogan, Serdal Ugurlu
Summary: Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent fever and serositis attacks. This study found that approximately 2% of patients develop the disease after the age of 40, and these patients experience a milder form of the disease.
INTERNAL AND EMERGENCY MEDICINE
(2022)
Article
Rheumatology
Avishai M. Tsur, Abdulla Watad, Omer Gendelman, Daniel Nissan, Arnon D. Cohen, Howard Amital
Summary: The study found a positive association between FMF and asthma through a cross-sectional study. Further research is needed to validate and explore possible explanations for this association. These findings challenge previous studies that suggested FMF as a protective factor against asthma.
Article
Rheumatology
Limor Marko, Asaf Shemer, Merav Lidar, Chagai Grossman, Amit Druyan, Avi Livneh, Shaye Kivity
Summary: Treatment with anakinra is beneficial for the majority of colchicine-resistant FMF patients and is relatively safe, as evidenced by a significant improvement in the Global Assessment Score. However, some patients experienced adverse effects such as hospitalizations and injection site reactions.
Article
Dermatology
Hayakazu Sumida, Kiyoshi Migita, Hiroaki Ida, Yoshihide Asano, Jun Shimizu, Shinji Kagami, Makoto Sugaya, Takafumi Kadono, Shinichi Sato
Summary: This case report describes a female patient presenting with a variety of symptoms, including periodic fever, migratory myalgia, and dermatitis, ultimately diagnosed as a variant of FMF. Genetic testing revealed novel compound heterozygous mutations in the MEFV gene, providing insight into the pathogenesis of her condition and supporting the diagnosis.
JOURNAL OF DERMATOLOGY
(2021)
Article
Gastroenterology & Hepatology
Neil Shadbeh Evans, Jennifer Ray, Charlene Prather
Summary: This case report presents a rare autosomal-dominant phenotype of Familial Mediterranean fever (FMF), with the patient having only one pathogenic variation of the MEFV gene due to the c.2177T>C mutation. The patient showed clinical features of recurrent fevers and abdominal pain.
ACG CASE REPORTS JOURNAL
(2021)
Article
Medicine, General & Internal
Necati Cakir, Hulya Azakli, Duran Ustek, Omer Uysal, Eren Gozke
Summary: The frequencies of the most common MEFV mutations in the Havsa population of European Turkey are lower compared to high-prevalence FMF regions in Turkey. The positivity of MEFV gene mutation tests may have lower predictive value in populations with low FMF prevalence.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Rheumatology
M. Kocabey, T. Cankaya, M. T. Bayram, A. Ulgenalp, A. O. Caglayan, O. Giray Bozkaya
Summary: This study aimed to uncover rare variants that may interact with a single pathogenic MEFV variant in the pathogenesis of FMF. Whole exome sequencing of individuals from 5 different families with diagnosed FMF but lacking biallelic MEFV mutations revealed de novo variants in the BIRC2 and BCL10 genes, which play a role in inflammatory pathways. Functional studies are needed to confirm the relationship between these genes and FMF.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
Article
Pediatrics
Mehmet Yildiz, Amra Adrovic, Ipek Ulkersoy, Neslihan Gucuyener, Oya Koker, Sezgin Sahin, Fatih Haslak, Kenan Barut, Ozgur Kasapcopur
Summary: The study found that having MEFV variants in patients with PFAPA syndrome is associated with later disease onset and shorter episode duration.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Pediatrics
Oren Biro, Alex Gileles-Hillel, Talia Dor-Wollman, Eli M. Eisenstein, Yackov Berkun
Summary: The study found a higher prevalence of ADHD, learning disabilities, headaches, and febrile seizures in children with FMF. Headaches and febrile seizures were significantly more common in children with FMF compared to their siblings. ADHD and learning disabilities were associated with poor adherence to colchicine treatment. Overall, it highlights the importance of addressing neurodevelopmental aspects in children with FMF for better disease management.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Rheumatology
Yonatan Butbul Aviel, Silman Rawan, Shafe Fahoum, Isaiah Wexler, Yackov Berkun
Summary: This study described a group of pediatric patients with FMF who discontinued colchicine therapy following a relatively long attack-free period, with a longer attack-free period prior to discontinuation predicting success; patients with arthritis or myalgia prior to cessation were more likely to have an attack after stopping colchicine therapy.
JOURNAL OF RHEUMATOLOGY
(2021)
