4.5 Review

Conventional and novel therapeutic options in children with familial Mediterranean fever: A rare autoinflammatory disease

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The remarkable characteristics of the children with colchicine-resistant familial Mediterranean fever in Turkey

Nihal Sahin et al.

Summary: The study identified the number of attacks and high ESR values as independent risk factors for pediatric colchicine-resistant FMF.

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Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever What Has Changed Over the Last Decade?

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Summary: This study found that FMF patients commonly present with symptoms such as abdominal pain, fever, and arthralgia, with those with M694V homozygosity experiencing more frequent symptoms and higher disease severity scores. Patients diagnosed earlier tended to have more symptoms like fever, chest pain, and proteinuria. Despite a similar rate of M694V homozygosity, patients diagnosed in the last decade showed a milder disease severity.

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The assessment of tocilizumab therapy on recurrent attacks of patients with familial Mediterranean fever: A retrospective study of 15 patients

Seda Colak et al.

Summary: In patients with familial Mediterranean fever (FMF), the interleukin-6 receptor antagonist tocilizumab (TCZ) has been shown to be effective in improving amyloidosis and reducing the frequency of recurrent attacks. Compliance with colchicine treatment was high among patients and further prospective studies are needed to confirm these results.

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Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor

Flora Magnotti et al.

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.

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Do all colchicine preparations have the same effectiveness in patients with familial Mediterranean fever?

Esra Baglan et al.

Summary: This study aimed to describe the demographic, clinical, and genetic features of FMF patients treated with multiple colchicine preparations. Switching from domestically produced to foreign produced colchicine tablets resulted in a significant decrease in attack frequency, duration, and acute phase reactants in pediatric FMF patients. Long-term controlled studies are needed to further confirm the benefits of multiple colchicine preparations in this patient population.

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Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach

Seza Ozen et al.

Summary: A set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF were developed to guide clinicians and health authorities in the management of patients with FMF.

RHEUMATOLOGY (2021)

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COVID-19 in patients with familial Mediterranean fever treated with colchicine: case based review

Kemal Nas et al.

Summary: COVID-19 and inflammatory rheumatic disorders both lead to a cytokine storm and can be treated with anti-rheumatic drugs. Colchicine may have a positive impact on the prognosis of COVID-19 in FMF patients, highlighting the importance of rheumatologists' experience in managing COVID-19 patients with anti-inflammatory drugs.

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IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives

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FRONTIERS IN IMMUNOLOGY (2021)

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Incidence and course of COVID-19 hospitalizations among patients with familial Mediterranean fever

Fadi Kharouf et al.

Summary: The study found no significant difference in the odds of hospitalization for COVID-19 between FMF patients and the non-FMF population, and similar disease severity and therapeutic approach in FMF COVID-19 inpatients and matched non-FMF COVID-19 inpatients.

RHEUMATOLOGY (2021)

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The impact of COVID-19 on familial Mediterranean fever: a nationwide study

Zafer Gunendi et al.

Summary: This study evaluated the impact of COVID-19 in FMF patients and found that FMF may not be a risk factor for poor outcomes in COVID-19. Most FMF patients with COVID-19 had mild to moderate disease activity.

RHEUMATOLOGY INTERNATIONAL (2021)

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Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders

Ferhat Guzel et al.

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Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever

Zehra Serap Arici et al.

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.

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Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

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Safety and efficacy of early high-dose IV anakinra in severe COVID-19 lung disease

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Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients

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Classification criteria for autoinflammatory recurrent fevers

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Age dependent safety and efficacy of colchicine treatment for familial mediterranean fever in children

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The Pyrin Inflammasome in Health and Disease

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Canakinumab treatment in children with familial Mediterranean fever: report from a single center

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Discontinuing colchicine in symptomatic carriers for MEFV (Mediterranean FeVer) variants

Hafize Emine Sonmez et al.

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