Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Demirkaya, Erkan; Sağlam, Celal; Türker, Türker; Koné‐Paut, Isabelle; Woo, P; Doglio, Matteo; Amaryan, Gayane; Frenkel, Joost; Uziel, Yosef; Insalaco, Antonella; Cantarini, Luca; Hofer, Michaël; Boiu, S; Düzova, Ali; Modesto, Consuelo; Bryant, Annette; Rigante, Donato; Papadopoulou‐Alataki, Efimia; Guillaume-Czitrom, S.; Kuemmerle-Deschner, Jasmine; Neven, Bénédicte; Lachmann, HJ; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco; Özen, Seza

doi:10.3899/jrheum.141249

Cited by 55 publications

(40 citation statements)

References 22 publications

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“…Chest attacks are characterized by acute one-sided febrile pleuritis with abrupt onset (15-54% of patients) [11,10] accompanied with painful breathing and diminished breathing sounds. A small pleural effusion or mild pleural thickening may be seen on chest radiograms [11].…”

Section: Chest Attacksmentioning

confidence: 99%

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Familial Mediterranean fever

Padeh¹,

Berkun

2016

Current Opinion in Rheumatology

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Section: Chest Attacksmentioning

confidence: 99%

“…Various diagnostic criteria have been suggested, with a wide range of differences in specificity and sensitivity in different populations [10]. Short-lived febrile episodes accompanied by inflammation of one of the serous membranes and with a response to colchicine treatment are required for the diagnosis.…”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Familial Mediterranean fever

Padeh¹,

Berkun

2016

Current Opinion in Rheumatology

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“…However, these Yalcinkaya-Ozen criteria show a higher sensitivity, but a lower specificity than the Tel-Hashomer criteria. Ethnic origin and residence of the patients are not relevant on their sensitivity and specificity (Table 2) [19].…”

Section: Diagnostic Criteriamentioning

confidence: 99%

FMF is not always “fever”: from clinical presentation to “treat to target”

Maggio

Corsello

2020

Ital J Pediatr

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Familial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease. Symptoms frequently start before 20 years of age and are characterized by a more severe phenotype in patients who begin earlier. Attacks consist of fever, serositis, arthritis and high levels of inflammatory reactants: C-reactive protein, erythrocyte sedimentation rate, serum amyloid A associated with leucocytosis and neutrophilia. The symptom-free intervals are of different length. The attacks of Familial Mediterranean Fever can have a trigger, as infections, stress, menses, exposure to cold, fatrich food, drugs. The diagnosis needs a clinical definition of the disease and a genetic confirmation. An accurate differential diagnosis is mandatory to exclude infective agents, autoimmune diseases, etc. In many patients there is no genetic confirmation of the disease; furthermore, some subjects with the relieve of MEFV mutations, show a phenotype not in line with the diagnosis of Familial Mediterranean Fever. For these reasons, diagnostic criteria were developed, as Tel Hashomer Hospital criteria, the "Turkish FMF Paediatric criteria", the "clinical classification criteria for autoinflammatory periodic fevers" formulated by PRINTO. The goals of the treatment are: prevention of attacks recurrence, normalization of inflammatory markers, control of subclinical inflammation in attacks-free intervals and prevention of medium and long-term complications, as amyloidosis. Colchicine is the first step in the treatment; biological drugs are effective in non-responder patients. The goal of this paper is to give a wide and broad review to general paediatricians on Familial Mediterranean Fever, with the relative diagnostic, clinical and therapeutic aspects.

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“…In this select population, the Yalçinkaya-Ozen criteria yielded higher sensitivity, but lower specificity compared with the other diagnostic criteria. 20 The response to colchicine is included as a major criterion in the Tel-Hashomer and a minor criterion in the Livneh criteria. 18 The therapeutic effectiveness of the microtubule polymerisation inhibitor colchicine in this population has been reported for decades, 21 with several more recent publications documenting in vitro evidence of effect on pyrin inflammasome formation.…”

Section: Periodic Fevermentioning

confidence: 99%

Monogenic autoinflammatory disorders: beyond the periodic fever

Moghaddas

2020

Internal Medicine Journal

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The past two decades have seen an exponential increase in the number of monogenic autoinflammatory disorders described, coinciding with improved genetic sequencing techniques. This group of disorders has evolved to be heterogeneous and certainly more complex than the original four ‘periodic fever syndromes’ caused by innate immune over‐activation. This review aims to provide an update on the classic periodic fever syndromes as well as introducing the broadening spectrum of clinical features seen in more recently described conditions.

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Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Cited by 55 publications

References 22 publications

Familial Mediterranean fever

Familial Mediterranean fever

FMF is not always “fever”: from clinical presentation to “treat to target”

Monogenic autoinflammatory disorders: beyond the periodic fever

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