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J Rheumatol. 2019 Apr;46(4):429-436. doi: 10.3899/jrheum.180056. Epub 2018 Nov 1.

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.

Author information

1
Istituto Giannina Gaslini, Clinica Pediatrica e Reumatologia, PRINTO, Genoa, Italy; silviafederici@gmail.com
2
Ospedale Regionale di Bellinzona e Valli, Dipartimento di Pediatria, Bellinzona, and Geneva University Hospitals, Geneva, Switzerland
3
Hadassah-Hebrew University Hospital, Rheumatology Unit, Jerusalem, Israel
4
University of Siena, Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, Siena, Italy
5
Wilhelmina Kinderziekenhuis, Universitair Medisch Centrum Utrecht, Afdeling Kinderreumatologie, Utrecht, the Netherlands
6
Rady Children's Specialists of San Diego, San Diego, California, USA
7
İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, Pediatrik Romatoloji, Istanbul, Turkey
8
Department of Pediatric Rheumatology, National Referral Centre of Auto-Inflammatory Diseases CEREMAI, CHU de Biĉetre, AP-HP, University of Paris Sud, le Kremlin Biĉetre, France
9
Division of Rheumatology, Department of Pediatrics and Autoinflammation Reference Center Tübingen, University Hospital Tübingen, Tübingen, Germany
10
Royal Free Campus, National Amyloidosis Centre, London, UK
11
Istituto Giannina Gaslini, Direzione Scientifica, Genoa, Italy
12
Fondazione IRCCS Policlinico San Matteo, Centro per lo Studio e la Cura delle Amiloidosi Sistemiche, Pavia, Italy
13
Hacettepe University, Department of Pediatric Rheumatology, Ankara, Turkey
14
Radboud UMC, Pediatric Rheumatology, Nijmegen, the Netherlands
15
Unité Romande d’Immuno-rhumatologie Pédiatrique, CHUV, University of Lausanne, Lausanne, and Geneva University Hospitals, Geneva, Switzerland
#
Contributed equally

Abstract

OBJECTIVE:

Provisional evidence-based classification criteria for hereditary periodic fever (HPF) have been recently developed. However, no consensus on how to combine clinical criteria, laboratory tests, and results of molecular analysis has been reached. The objective of this study is to understand which variables physicians consider important for the classification of patients with HPF.

METHODS:

Two Delphi surveys were sent to health professionals in the field of autoinflammation. In the first open survey, 124 researchers could list all the variables they consider useful for the diagnosis of each monogenic periodic fever. The variables could be of any type and each researcher could complete the survey for 1 or more diseases. In the second survey, 162 researchers were asked to select, from a list of items coming from the first survey, the 10 top variables and to rank them by assigning a score from 10 to 1.

RESULTS:

The response rates to the Delphi surveys were 85% for the first session and 87% for the second. The variables selected for each disease (corresponding to the third quartile, considering the total score obtained by the variables after the second Delphi survey) were 21 for mevalonate kinase deficiency, 22 for cryopyrinopathies, 18 for familial Mediterranean fever, and 20 for tumor necrosis factor receptor-associated periodic fever syndrome. A positive genetic test reached the top rank in all the HPF.

CONCLUSION:

Our process led to the identification of those features considered the most important as candidate variables to be included in a new set of evidence-based classification criteria for HPF.

KEYWORDS:

CLASSIFICATION CRITERIA; CRYOPYRINOPATHIES; FAMILIAL MEDITERRANEAN FEVER; MEVALONATE KINASE DEFICIENCY; TNF RECEPTOR–ASSOCIATED PERIODIC FEVER SYNDROMES

PMID:
30385706
DOI:
10.3899/jrheum.180056

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