Development of the autoinflammatory disease damage index (ADDI).
OBJECTIVE
Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency.


METHODS
We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds.


RESULTS
More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain.


CONCLUSIONS
An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.
Laboratory for Translational Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.|Department of Paediatric Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Nienke M
NM
Ter Haar
Department of Paediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Kim V
KV
Annink
Department of Paediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Sulaiman M
SM
Al-Mayouf
National Paediatric Centre for Familial Mediterranean Fever and Gastroenterology Service, Arabkir Medical Centre-Institute of Child & Adolescent Health, Yerevan, Armenia.
Gayane
G
Amaryan
Paediatric Rheumatology Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
Jordi
J
Anton
Division of Intramural Research and National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
Karyl S
KS
Barron
Department of Paediatrics and Department of Rheumatology, Alberta Children's Hospital, Calgary, Canada.
Susanne M
SM
Benseler
Department of Infection, Inflammation and Rheumatology, University College London Institute of Child Health, London, UK.
Paul A
PA
Brogan
Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena, Siena, Italy.
Luca
L
Cantarini
Paediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy.
Marco
M
Cattalini
Paediatrics Department, National Institute for Mother and Child Health Alessandrescu-Rusescu, Bucharest, Romania.
Alexis-Virgil
AV
Cochino
Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Fabrizio
F
De Benedetti
Division of Immunology, Rheumatology Program, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Fatma
F
Dedeoglu
Translational Autoinflammatory Disease Section, NIAID, National Institutes of Health, Bethesda, USA.
Adriana A
AA
De Jesus
UOSD Farmacologia Clinica e Clinical Trial-Scientific Direction, G. Gaslini Institute, Genova, Italy.
Ornella
O
Della Casa Alberighi
Department of Paediatric Rheumatology, Gulhane Military Medical Faculty, Ankara, Turkey.
Erkan
E
Demirkaya
Department of Paediatrics and Adolescent Medicine, Charles University, General University Hospital, Prague, Czech Republic.
Pavla
P
Dolezalova
Autoinflammatory Alliance, San Fransisco, USA.
Karen L
KL
Durrant
Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Giovanna
G
Fabio
Department of Paediatrics, Rheumatology, AOU G Martino, Messina, Italy.
Romina
R
Gallizzi
Translational Autoinflammatory Disease Section, NIAID, National Institutes of Health, Bethesda, USA.
Raphaela
R
Goldbach-Mansky
Département de Médecine Interne et Immunologie Clinique, Université de Lille, Lille, France.
Eric
E
Hachulla
Reference centre for autoinflammatory diseases (CEREMAI), Versailles Hospital, Le Chesnay, France.
Veronique
V
Hentgen
Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.
Troels
T
Herlin
Department of Paediatric Rheumatology, University of Lausanne, Lausanne, Switzerland.|Department of Paediatric Rheumatology, University Hospital of Geneva, Geneva, Switzerland.
Michaël
M
Hofer
Department of Paediatrics, University of California, San Diego, USA.
Hal M
HM
Hoffman
Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Antonella
A
Insalaco
Department of Rheumatology&Immunology, Dr. von Hauner Childrens Hospital, Ludwig-Maximilians-University, Munich, Germany.
Annette F
AF
Jansson
Paediatric Pneumology and Immunology and Interdisciplinary Centre for Social Paediatrics, Charité University Medicine Berlin, Berlin, Germany.
Tilmann
T
Kallinich
Department of Paediatric Rheumatology and CEREMAI, Bicêtre Hospital, APHP, University of Paris Sud, Paris, France.
Isabelle
I
Koné-Paut
Department of Immunology, Federal Research and Clinical Centre for Paediatric Haematology, Oncology and Immunology, Moscow, Russia.
Anna
A
Kozlova
Division of Paediatric Rheumatology, Department of Paediatrics, University Hospital Tuebingen, Tuebingen, Germany.
Jasmin B
JB
Kuemmerle-Deschner
Division of Medicine, University College London, London, UK.
Helen J
HJ
Lachmann
Department of Paediatrics and Medicine, University of Toronto and the Hospital for Sick Children, Toronto, Canada.
Ronald M
RM
Laxer
Direzione Scientifica, G Gaslini Institute, Genova, Italy.
Alberto
A
Martini
Paediatric Rheumatology unit 4272, Rigshospitalet, Copenhagen, Denmark.
Susan
S
Nielsen
Department of Paediatric Rheumatic diseases, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russia.
Irina
I
Nikishina
Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
Amanda K
AK
Ombrello
Department of Paediatric Rheumatology, Hacettepe University, Ankara, Turkey.
Seza
S
Ozen
Fourth Department of Paediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Efimia
E
Papadopoulou-Alataki
Department of Paediatric Immunology-Hematology and Rheumatology Unit and IMAGINE Institute, Institution Necker-Enfants Malades Hospital and Paris-Descartes University, Paris, France.
Pierre
P
Quartier
Institute of Paediatrics, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy.
Donato
D
Rigante
Servicio de Inmunología y Reumatología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Ricardo
R
Russo
Internal Medicine, Radboud Expertise Centre for Immunodeficiency and Autoinflammation, Radboud University Medical Centre, Nijmegen, The Netherlands.
Anna
A
Simon
Paediatric Immunology and Rheumatology Referral Centre, first Paediatric clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Maria
M
Trachana
Department of Paediatrics, Meir Medical Centre, Kfar Saba, Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.
Yosef
Y
Uziel
Institution Università degli Studi di Genova and G. Gaslini Institute, Genova, Italy.
Angelo
A
Ravelli
UOC Pediatria 2, G. Gaslini Institute, Genova, Italy.
Marco
M
Gattorno
Department of Paediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Joost
J
Frenkel
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D032921:Consensus; D005334:Fever / Q000150:complications*; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications*; D006801:Humans; D008875:Middle Aged; D012196:Review Literature as Topic; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D055815:Young Adult
Familial Mediterranean Fever; Fever Syndromes; Outcomes research; Patient perspective