International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor–Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome

Özen, Seza; Kuemmerle‐Deschner, Jasmin; Cimaz, Rolando; Livneh, Avi; Quartier, Pierre; Koné‐Paut, Isabelle; Zeft, Andrew; Spalding, Steve; Gül, Ahmet; Hentgen, Véronique; Savic, Sinisa; Foeldvari, Ivan; Frenkel, Joost; Cantarini, Luca; Patel, Dhaval; Weiss, Jeffrey A.; Marinsek, Nina; Degun, Ravi; Lomax, Kathleen G.; Lachmann, HJ

doi:10.1002/acr.23120

Cited by 76 publications

(68 citation statements)

References 20 publications

(20 reference statements)

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“…As a group, the systemic autoinflammatory diseases deserve considerable disease awareness as, almost uniquely they combine severe disease, often with early onset, and a risk of irreversible long term complications with, for the most often seen syndromes, excellent responses to highly specific and well tolerated, albeit often expensive, treatments. Unfortunately there are still considerable diagnostic delays and many patients will have seen five or more hospital specialities before a diagnosis is made (3).…”

Section: A Recognising Autoinflammatory Diseasesmentioning

confidence: 99%

Periodic fever syndromes

Lachmann

2017

Best Practice & Research Clinical Rheumatology

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Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Understanding the molecular pathogenesis of these disorders provides unique insights into the regulation of innate immunity. Diagnosis relies on clinical acumen and is supported by genetic testing. With the exception of FMF, which is prevalent in populations originating from the Mediterranean, these syndromes are rare and easily overlooked in the investigation of recurrent fevers. Disease severity varies from mild to life threatening, and one of the most feared complications is AA amyloidosis. Effective therapies are available for many of the syndromes, including colchicine, IL-1 blockade and anti-TNF therapies, and there is an increasing interest in blocking interferon pathways.

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Section: A Recognising Autoinflammatory Diseasesmentioning

confidence: 99%

Periodic fever syndromes

Lachmann

2017

Best Practice & Research Clinical Rheumatology

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“…Neben den gegen IL-1 gerichteten Biologika wurden FMF-Patienten auch mit Substanzen behandelt, die TNF(Tumornekrosefaktor)-α und IL-6 blockieren (Anzahl der Patienten therapiert mit TNF-α-Blockern 4 [68], 3 [71], Anzahl der Patienten therapiert mit Tocilizumab: 8 [77]). IL-1 blockierende Substanzen wurden in den meisten Fällen bei Vorliegen einer unzureichenden Colchicin-Wirkung mit persistierenden Attacken und ggf.…”

Section: Therapieempfehlungunclassified

Evidenzbasierte Therapieempfehlungen für das familiäre Mittelmeerfieber

Kallinich

Blank²,

Braun

et al. 2019

Z Rheumatol

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“…До настоящего времени диагностика АВЗ представляет большие сложности. Задержка в постановке диагноза составляет от нескольких лет до десятилетий [9,24,25]. Ситуация значительно улучшилась с момента открытия генетических мутаций, однако остается по-прежнему сложной.…”

Section: диагностика и дифференциальная диагностика моногенных ау товunclassified

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Салугина¹,

Федоров²,

Agafonova³

2019

Naučno-praktičeskaâ revmatologiâ

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The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

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International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor–Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome

Abstract: Objectives: Periodic fever syndromes (PFS) are characterised by recurrent attacks of fever and localised inflammation. This study examined the diagnostic pathway and treatments at tertiary centres for FMF, TRAPS and MKD/HIDS.

Cited by 76 publications

References 20 publications

Periodic fever syndromes

Periodic fever syndromes

Evidenzbasierte Therapieempfehlungen für das familiäre Mittelmeerfieber

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

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