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
Rheumatology
Fatma Tuncer Kuru, Neslihan Gokcen, Ayten Yazici, Ayse Cefle
Summary: The objective of this study was to assess the relationships between genotype, phenotype, and disease severity in adult familial Mediterranean fever patients. The patients were divided into four groups based on their mutations. Disease severity was evaluated using the Pras disease severity score. The results showed that patients with M694V homozygous mutation had higher Pras scores, and there was a moderate to strong correlation between age at onset/diagnosis and Pras scores. Therefore, M694V homozygous familial Mediterranean fever patients are more likely to have higher disease severity.
MODERN RHEUMATOLOGY
(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)
Article
Rheumatology
Nuray Aktay Ayaz, Ayse Tanatar, Serife Gul Karadag, Mustafa Cakan, Gonca Keskindemirci, Hafize Emine Sonmez
Summary: This study retrospectively reviewed the medical records of 1687 children with FMF and found that patients with concomitant diseases exhibited a more severe disease course, and those carrying the M694V mutation were more prone to comorbidities.
RHEUMATOLOGY INTERNATIONAL
(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)
Article
Pediatrics
Eyad Altamimi, Dua' N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh
Summary: This study reviewed cases of children with familial Mediterranean fever (FMF), described their mutation distribution and clinical characteristics, and explored the correlation between genotype and phenotype. The results showed that the R202Q mutation is associated with the full spectrum manifestation of FMF, and patients with compound heterozygous mutations had the best response to colchicine treatment.
PEDIATRICS AND NEONATOLOGY
(2023)
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)
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
Pediatrics
Kubra Ozturk, Mustafa Cakan
Summary: A study analyzing the genetic results of FMF patients found that patients with confirmatory mutations are more likely to have symptoms of ELE and arthritis.
PEDIATRICS INTERNATIONAL
(2022)
Article
Rheumatology
Gernot Kriegshaeuser, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
Summary: The study identified a significant relationship between different SAA1 genotypes and the age of disease onset in FMF patients, showing unique distribution of SAA1 genotypes in adult-onset FMF and a less severe phenotype in adult-onset FMF. This suggests a potential modifying role of the SAA1 gene in patients with Mediterranean fever.
Article
Rheumatology
Vasiliki Sgouropoulou, Evangelia Farmaki, Theophanis Papadopoulos, Vasiliki Tzimouli, Jenny Pratsidou-Gertsi, Maria Trachana
Summary: NGS technology elucidates the genetic characteristics of patients with atypical phenotypes, supports therapeutic management decisions, and reveals the frequent involvement of R202Q in the pathogenesis of FMF patients.
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
G. Kriegshaeuser, H. Hayrapetyan, S. Atoyan, C. Oberkanins, T. Sarkisian
Summary: The study showed a significant association between the SAA1 genotype beta/beta and delayed disease onset in M694V homozygous FMF patients. However, this relationship was not observed in patients with other MEFV genotypes.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2021)
Article
Medicine, General & Internal
Zehra Serap Arici, Micol Romano, David Piskin, Ferhat Guzel, Sezgin Sahin, Roberta A. Berard, Mahmut Yilmaz, Erkan Demirkaya
Summary: This study aimed to compare the clinical phenotype of patients with FMF-related AA amyloidosis based on age of FMF diagnosis and E148Q genotype. The most common clinical manifestations were fever, abdominal pain, and arthritis. The study found M694V and E148Q to be the most common genetic mutations, with higher mortality rate among patients with homozygous M694V genotype and the need for close monitoring of patients with homozygous E148Q genotype. The relationship between E148Q and AA amyloidosis warrants further confirmation in other ethnicities.
JOURNAL OF CLINICAL MEDICINE
(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
Obstetrics & Gynecology
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A. Jarjour
REPRODUCTIVE SCIENCES
(2017)
Letter
Genetics & Heredity
Walid Al-Achkar, Abdulsamad Wafa, Rami A. Jarjour
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2011)
Article
Medical Laboratory Technology
Ammar Madania, Hana Zarzour, Rami A. Jarjour, Ifad Ghoury
CLINICAL BIOCHEMISTRY
(2010)
Article
Biochemistry & Molecular Biology
Hossam Murad, Faten Moassas, Rami Jarjour, Yasser Mukhalalaty, Walid Al-Achkar
Article
Biochemistry & Molecular Biology
Rami A. Jarjour, Hossam Murad, Faten Moasses, Walid Al-Achkar
Article
Biochemistry & Molecular Biology
Rami A. Jarjour, Reem Dodaki
MOLECULAR BIOLOGY REPORTS
(2011)
Article
Rheumatology
Rami A. Jarjour, Sumaya Al-Berrawi
RHEUMATOLOGY INTERNATIONAL
(2015)
Article
Chemistry, Physical
M. Naddaf, R. A. Jarjour
Summary: This study reports the fabrication of free-standing porous silicon (PSi) film with attractive structural and optical properties for prospective biomedical applications. The produced film, with both amorphous and nano-crystalline phases, shows efficient oxidation and good stability. Furthermore, the film demonstrates specific and efficient adsorption of colchicine drug, suggesting its potential utilization for drug delivery applications in the future.
Article
Genetics & Heredity
Abdulsamad Wafa, Rami A. Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman, Walid Al-Achkar
MOLECULAR CYTOGENETICS
(2020)
Article
Genetics & Heredity
Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman, Walid Al-Achkar
MOLECULAR CYTOGENETICS
(2020)