Guidelines for the management and treatment of periodic fever syndromes

Terreri, Maria Teresa; Bernardo, Wanderley Marques; Len, Cláudio Arnaldo; Silva, Clóvis A.; Magalhães, Cristina Medeiros Ribeiro de; Sacchetti, Silvana; Ferriani, Virgínia Paes Leme; Piotto, Daniela Gerent Petry; Cavalcanti, André; Moraes, Ana Júlia Pantoja de; Sztajnbok, Flávio; Oliveira, Sheila Knupp Feitosa de; Campos, Lúcia Maria Arruda; Bandeira, Márcia; Santos, Flávia Patrícia Sena Teixeira; Magalhães, Cláudia Saad

doi:10.1016/j.rbre.2015.08.020

Cited by 6 publications

(4 citation statements)

References 39 publications

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“…Brazilian evidence-based guidelines for treatment were published in 2016. [26][27][28] Patients with periodic fever syndromes clearly benefit from anti-interleukin (IL) 1 treatment. 26 Colchicine remains the mainstay for FMF treatment and represents the second line therapy for PFAPA.…”

Section: Discussionmentioning

confidence: 99%

“…[26][27][28] Patients with periodic fever syndromes clearly benefit from anti-interleukin (IL) 1 treatment. 26 Colchicine remains the mainstay for FMF treatment and represents the second line therapy for PFAPA. 27,28 Adequate therapeutic resources are scarce for the rare monogenic conditions, which can be subject to rational therapy with tumor necrosis factor (TNF) and IL-1 antagonists.…”

Section: Discussionmentioning

confidence: 99%

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Autoinflammatory diseases: a Latin American multicenter study according to age and sex

Piotto,

Kozu,

Aikawa

et al. 2024

Rev. paul. pediatr.

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Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0–15.6 years) and median age at diagnosis 6.9 years (0–21.9 years); 111 (73%) were children (0–9 years old), and 41 (27%) were adolescents and young adults (AYA) (10–21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Autoinflammatory diseases: a Latin American multicenter study according to age and sex

Piotto,

Kozu,

Aikawa

et al. 2024

Rev. paul. pediatr.

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“…It is estimated that AA amyloidosis would affect 25-33% of patients if left untreated (Aganna et al, 2002). Neurological impairment is not usually associated with MWS, although headache and papilloedema have been reported (Terreri et al, 2015).…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Recognising and understanding cryopyrin-associated periodic syndrome in adults

2019

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Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases characterised by recurrent flares of mild to severe systemic inflammation and fever. CAPS is the umbrella term for a spectrum of individual conditions, namely familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. The flare symptoms include fever, fatigue, rashes, headaches, arthralgia and myalgia that can last for a few hours or for several days. These symptoms are debilitating, contributing to poor quality of life for patients if left untreated. Serious life-changing complications such as hearing loss, blindness and AA amyloidosis resulting in kidney failure can occur. Until recently, treatment of the disease was symptomatic using non-steroidal anti-inflammatory and immunosuppressant drugs with limited success. In contrast, biological treatments targeting interleukin 1 (IL-1) have proved remarkably effective, often associated with complete and sustained disease remission, vastly improved quality of life and avoidance of serious long-term complications.

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“…AA-амилоидоз является осложнением поздней стадии заболевания [9]. Прогрессирующее течение АА-амилоидоза приводит к развитию хронической болезни почек, что является основной причиной гибели пациентов, у 20 % больных он развивается к 20 годам жизни [5,[9][10][11].…”

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Auto-Inflammatory Syndromes in Doctor's Practice on the Example of a Family Case of Mukcle-Wells Syndrome

Zatolokina,

Loskutova,

Belousova

et al. 2023

SMV

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Introduction. In parallel with the development of modern molecular genetic diagnostics, the frequency of diagnosing rare (orphan) syndromes in patients is increasing. Previously described clinical cases with a combination of certain syndromes, at the present stage are transformed into a genetically confirmed clinical diagnosis with the possibility of using targeted pathogenetically determined therapy. Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to the group of Сryopyrin-Associated Periodic Syndrome (CAPS) which has an unfavorable outcome if left untreated. Aim. To demonstrate a family clinical case of a rare autoinflammatory disease. Materials and methods. History of the disease for 4 generations of the same family, clinical and laboratory manifestations in a 7-year-old patient, genetic testing to identify Muckle-Wells syndrome. Results. A clinical, genetic examination of two children and a mother from the same family was carried out, an autoinflammatory disease belonging to the group of cryopyrin-associated periodic syndromes was documented, biological therapy was prescribed. Conclusion. Increasing awareness of orphan diseases at the present stage contributes to earlier diagnosis, molecular genetic testing, taking into account family history and early administration of pathogenetic therapy with the ability to prevent the development of life-threatening complications.

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Guidelines for the management and treatment of periodic fever syndromes

Cited by 6 publications

References 39 publications

Autoinflammatory diseases: a Latin American multicenter study according to age and sex

Autoinflammatory diseases: a Latin American multicenter study according to age and sex

Recognising and understanding cryopyrin-associated periodic syndrome in adults

Auto-Inflammatory Syndromes in Doctor's Practice on the Example of a Family Case of Mukcle-Wells Syndrome

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