THU0558 Increased frequency of febrile seizures in two periodic fever syndromes: familial mediterranean fever and pfapa syndrome

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) is a benign, self-limited, auto-inflammatory disorder. The attacks usually start at age 2 to 5 years and cease before the age of 10 years. Affected children grow and develop normally and experience no long-term sequelae. The course of PFAPA syndrome is attenuated by the carrier state of the familial Mediterranean fever (FMF) gene, MEFV. A high rate of MEFV mutations has also been reported in various hemato-lymphoid neoplasms. We describe a 19-year-old woman with PFAPA syndrome in remission who was diagnosed with Hodgkin's lymphoma. Although mutations in the FMF gene were not found in this case, the association of PFAPA syndrome with FMF gene mutations and hematological malignancies is discussed.

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

Frontiers in Immunology ◽

10.3389/fimmu.2020.619257 ◽

2021 ◽

Vol 11 ◽

Author(s):

Hana Malcova ◽

Zuzana Strizova ◽

Tomas Milota ◽

Ilja Striz ◽

Anna Sediva ◽

...

Keyword(s):

Periodic Fever ◽

Tumor Necrosis Factor Receptor ◽

Systemic Juvenile Idiopathic Arthritis ◽

Clinical Manifestations ◽

Musculoskeletal Symptoms ◽

Mevalonate Kinase Deficiency ◽

Periodic Fever Syndromes ◽

Therapeutic Uses ◽

Fever Syndromes ◽

Mediterranean Fever

Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations. The most common symptoms involve recurrent fevers, musculoskeletal symptoms, and serositis; however, AIDs can also lead to life-threatening complications, such as macrophage activation syndrome (MAS) and systemic AA amyloidosis. Typical monogenic periodic fever syndromes include cryopyrin-associated periodic fever syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyper IgD syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). However, a number of other clinical entities, such as systemic juvenile idiopathic arthritis (sJIA), adult-onset Still’s disease (AOSD), Kawasaki disease (KD) and idiopathic recurrent pericarditis (IRP), display similar phenotypical and immunological features to AIDs. All these diseases are pathophysiologicaly characterized by dysregulation of the innate immune system and the central pathogenic role is attributed to the IL-1 cytokine family (IL-1α, IL-1β, IL-1Ra, IL-18, IL-36Ra, IL-36α, IL-37, IL-36β, IL-36g, IL-38, and IL-33). Therefore, reasonable therapeutic approaches aim to inhibit these cytokines and their pathways. To date, several anti-IL-1 therapies have evolved. Each drug differs in structure, mechanism of action, efficacy for the treatment of selected diseases, and side effects. Most of the available data regarding the efficacy and safety of IL-1 inhibitors are related to anakinra, canakinumab, and rilonacept. Other promising therapeutics, such as gevokizumab, tadekinig alfa, and tranilast are currently undergoing clinical trials. In this review, we provide sophisticated and up-to-date insight into the therapeutic uses of different IL-1 inhibitors in monogenic periodic fever syndromes.

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Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences

Rheumatology International ◽

10.1007/s00296-018-4105-2 ◽

2018 ◽

Vol 39 (1) ◽

pp. 29-36 ◽

Cited By ~ 14

Author(s):

Amra Adrovic ◽

Sezgin Sahin ◽

Kenan Barut ◽

Ozgur Kasapcopur

Keyword(s):

Familial Mediterranean Fever ◽

Periodic Fever ◽

Aphthous Stomatitis ◽

Mediterranean Fever ◽

Pfapa Syndrome

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Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease

Cardiology in the Young ◽

10.1017/s1047951120001444 ◽

2020 ◽

Vol 30 (7) ◽

pp. 1009-1011

Author(s):

Sena Turk ◽

Derya Aydin ◽

Eser Dogan ◽

Erturk Levent ◽

Necil Kutukculer

Keyword(s):

Kawasaki Disease ◽

Periodic Fever ◽

Periodic Fever Syndromes ◽

System Disease ◽

Rheumatologic Diseases ◽

Coronary Artery Involvement ◽

Fever Syndromes ◽

Mediterranean Fever ◽

Systemic Onset ◽

Children Under 5

AbstractKawasaki disease, known as mucocutaneous lymph node syndrome, is a multi-system disease of unknown aetiology that occurs in young children under 5 years of age. The recurrence rate of Kawasaki disease is as rare as 1–3%. Especially in cases with coronary artery involvement, recurrent Kawasaki disease should be investigated in terms of underlying rheumatologic diseases such as periodic fever syndromes, microscopic polyangiitis, polyarteritis nodosa, and systemic-onset juvenile arthritis. In this study, we report homozygote mutations in mevalonate kinase and familial Mediterranean fever genes in a recurrent Kawasaki disease with coronary dilatation.

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PFAPA Syndrome and Hereditary Periodic Fever Syndromes

Çocuk Enfeksiyon Dergisi/Journal of Pediatric Infection ◽

10.5152/ced.2012.05 ◽

2012 ◽

Vol 6 (1) ◽

pp. 24-29

Author(s):

Aysel Vehapoğlu Türkmen ◽

Selçuk Uzuner ◽

Necati Taşkın

Keyword(s):

Periodic Fever ◽

Periodic Fever Syndromes ◽

Hereditary Periodic Fever Syndromes ◽

Hereditary Periodic Fever ◽

Fever Syndromes ◽

Pfapa Syndrome

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The rs13075270 and rs13092160 polymorphisms of CCR1 and CCR3 genes on oral aphthous-like lesions in PFAPA syndrome

Cellular and Molecular Biology ◽

10.14715/cmb/2021.67.4.37 ◽

2022 ◽

Vol 67 (4) ◽

pp. 328-333

Author(s):

Weiwei Li ◽

Na Li ◽

Guohai Yang ◽

Yanhua Li

Keyword(s):

Periodic Fever ◽

Common Symptom ◽

Control Groups ◽

Periodic Fever Syndromes ◽

Cervical Adenitis ◽

Significant Difference ◽

Pcr Rflp ◽

Fever Syndromes ◽

Pfapa Syndrome ◽

And Control

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.

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Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

AJP Regulatory Integrative and Comparative Physiology ◽

10.1152/ajpregu.00504.2006 ◽

2007 ◽

Vol 292 (1) ◽

pp. R86-R98 ◽

Cited By ~ 92

Author(s):

Anna Simon ◽

Jos W. M. van der Meer

Keyword(s):

Periodic Fever ◽

Innate Immune ◽

Tnf Receptor ◽

Inherited Disorders ◽

Autoinflammatory Syndromes ◽

General Hypothesis ◽

Periodic Fever Syndromes ◽

Fever Syndromes ◽

Mediterranean Fever ◽

Pyogenic Arthritis

Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial periodic fever syndromes has been unraveled, and through research into the pathophysiology, a clearer picture of the innate immune system is emerging. After an introduction on fever, interleukin-1β and inflammasomes, which are involved in the majority of these diseases, this manuscript offers a detailed review of the pathophysiology of the cryopyrin-associated periodic syndromes, familial Mediterranean fever, the syndrome of pyogenic arthritis, pyoderma gangrenosum and acne, Blau syndrome, TNF-receptor-associated periodic syndrome and hyper-IgD and periodic fever syndrome. Despite recent major advances, there are still many questions to be answered regarding the pathogenesis of these disorders.

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