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Clinical and epidemiological research
Extended report
Development of the autoinflammatory disease damage index (ADDI)
  1. Nienke M ter Haar1,2,
  2. Kim V Annink3,
  3. Sulaiman M Al-Mayouf4,
  4. Gayane Amaryan5,
  5. Jordi Anton6,
  6. Karyl S Barron7,
  7. Susanne M Benseler8,
  8. Paul A Brogan9,
  9. Luca Cantarini10,
  10. Marco Cattalini11,
  11. Alexis-Virgil Cochino12,
  12. Fabrizio De Benedetti13,
  13. Fatma Dedeoglu14,
  14. Adriana A De Jesus15,
  15. Ornella Della Casa Alberighi16,
  16. Erkan Demirkaya17,
  17. Pavla Dolezalova18,
  18. Karen L Durrant19,
  19. Giovanna Fabio20,
  20. Romina Gallizzi21,
  21. Raphaela Goldbach-Mansky15,
  22. Eric Hachulla22,
  23. Veronique Hentgen23,
  24. Troels Herlin24,
  25. Michaël Hofer25,26,
  26. Hal M Hoffman27,
  27. Antonella Insalaco28,
  28. Annette F Jansson29,
  29. Tilmann Kallinich30,
  30. Isabelle Koné-Paut31,
  31. Anna Kozlova32,
  32. Jasmin B Kuemmerle-Deschner33,
  33. Helen J Lachmann34,
  34. Ronald M Laxer35,
  35. Alberto Martini36,
  36. Susan Nielsen37,
  37. Irina Nikishina38,
  38. Amanda K Ombrello39,
  39. Seza Ozen40,
  40. Efimia Papadopoulou-Alataki41,
  41. Pierre Quartier42,
  42. Donato Rigante43,
  43. Ricardo Russo44,
  44. Anna Simon45,
  45. Maria Trachana46,
  46. Yosef Uziel47,
  47. Angelo Ravelli48,
  48. Marco Gattorno49,
  49. Joost Frenkel3
  1. 1Laboratory for Translational Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands
  2. 2Department of Paediatric Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands
  3. 3Department of Paediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands
  4. 4Department of Paediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
  5. 5National Paediatric Centre for Familial Mediterranean Fever and Gastroenterology Service, Arabkir Medical Centre-Institute of Child & Adolescent Health, Yerevan, Armenia
  6. 6Paediatric Rheumatology Unit, Hospital Sant Joan de Déu, Barcelona, Spain
  7. 7Division of Intramural Research and National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA
  8. 8Department of Paediatrics and Department of Rheumatology, Alberta Children's Hospital, Calgary, Canada
  9. 9Department of Infection, Inflammation and Rheumatology, University College London Institute of Child Health, London, UK
  10. 10Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena, Siena, Italy
  11. 11Paediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy
  12. 12Paediatrics Department, National Institute for Mother and Child Health Alessandrescu-Rusescu, Bucharest, Romania
  13. 13Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy
  14. 14Division of Immunology, Rheumatology Program, Boston Children's Hospital, Harvard Medical School, Boston, USA
  15. 15Translational Autoinflammatory Disease Section, NIAID, National Institutes of Health, Bethesda, USA
  16. 16UOSD Farmacologia Clinica e Clinical Trial—Scientific Direction, G. Gaslini Institute, Genova, Italy
  17. 17Department of Paediatric Rheumatology, Gulhane Military Medical Faculty, Ankara, Turkey
  18. 18Department of Paediatrics and Adolescent Medicine, Charles University, General University Hospital, Prague, Czech Republic
  19. 19Autoinflammatory Alliance, San Fransisco, USA
  20. 20Department of Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy
  21. 21Department of Paediatrics, Rheumatology, AOU G Martino, Messina, Italy
  22. 22Département de Médecine Interne et Immunologie Clinique, Université de Lille, Lille, France
  23. 23Reference centre for autoinflammatory diseases (CEREMAI), Versailles Hospital, Le Chesnay, France
  24. 24Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark
  25. 25Department of Paediatric Rheumatology, University of Lausanne, Lausanne, Switzerland
  26. 26Department of Paediatric Rheumatology, University Hospital of Geneva, Geneva, Switzerland
  27. 27Department of Paediatrics, University of California, San Diego, USA
  28. 28Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
  29. 29Department of Rheumatology&Immunology, Dr. von Hauner Childrens Hospital, Ludwig-Maximilians-University, Munich, Germany
  30. 30Paediatric Pneumology and Immunology and Interdisciplinary Centre for Social Paediatrics, Charité University Medicine Berlin, Berlin, Germany
  31. 31Department of Paediatric Rheumatology and CEREMAI, Bicêtre Hospital, APHP, University of Paris Sud, Paris, France
  32. 32Department of Immunology, Federal Research and Clinical Centre for Paediatric Haematology, Oncology and Immunology, Moscow, Russia
  33. 33Division of Paediatric Rheumatology, Department of Paediatrics, University Hospital Tuebingen, Tuebingen, Germany
  34. 34Division of Medicine, University College London, London, UK
  35. 35Department of Paediatrics and Medicine, University of Toronto and the Hospital for Sick Children, Toronto, Canada
  36. 36Direzione Scientifica, G Gaslini Institute, Genova, Italy
  37. 37Paediatric Rheumatology unit 4272, Rigshospitalet, Copenhagen, Denmark
  38. 38Department of Paediatric Rheumatic diseases, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russia
  39. 39Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA
  40. 40Department of Paediatric Rheumatology, Hacettepe University, Ankara, Turkey
  41. 41Fourth Department of Paediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece
  42. 42Department of Paediatric Immunology-Hematology and Rheumatology Unit and IMAGINE Institute, Institution Necker-Enfants Malades Hospital and Paris-Descartes University, Paris, France
  43. 43Institute of Paediatrics, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy
  44. 44Servicio de Inmunología y Reumatología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
  45. 45Internal Medicine, Radboud Expertise Centre for Immunodeficiency and Autoinflammation, Radboud University Medical Centre, Nijmegen, The Netherlands
  46. 46Paediatric Immunology and Rheumatology Referral Centre, first Paediatric clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
  47. 47Department of Paediatrics, Meir Medical Centre, Kfar Saba, Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel
  48. 48Institution Università degli Studi di Genova and G. Gaslini Institute, Genova, Italy
  49. 49UOC Pediatria 2, G. Gaslini Institute, Genova, Italy
  1. Correspondence to Dr Nienke M ter Haar, Laboratory for Translational Immunology & Department of Paediatric Immunology, University Medical Centre, Lundlaan 6, Utrecht 3584EA, The Netherlands; n.m.terhaar-2{at}umcutrecht.nl

Abstract

Objectives 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.

  • Fever Syndromes
  • Familial Mediterranean Fever
  • Outcomes research
  • Patient perspective

https://doi.org/10.1136/annrheumdis-2016-210092

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    Footnotes

    • Handling editor Tore K Kvien

    • NMtH and KVA are joint first authors and MG and JF are joint last authors.

    • Dr Ornella Della Casa Alberighi is deceased in the course of this project.

    • Twitter Follow Ricardo Russo at @el_reumatologo

    • Contributors NMtH and KVA are joint first authors. MG and JF are joint last authors. NMtH, KVA and JF designed the study and wrote the manuscript. ODCA was the principal investigator of RADICEA. KLD contacted patients for patient recruitment. The consensus meeting was prepared with and led by AR. KLD, JF and all other authors contributed to the online surveys and/or the consensus meeting, and attributed to and approved the manuscript.

    • Funding The project was supported by ERANET-PRIOMEDCHILD RaDiCEA Project No. 40-41800-98-007. The Eurofever Registry was funded by the Executive Agency for Health and Consumers (EAHC, Project No. 2007332). The work was supported by an unrestricted grant by Novartis Pharma AG.

    • Competing interests Novartis Pharma AG financially supported the final consensus meeting. They did not have any influence on the selection of participants or on the content of the ADDI/consensus meeting or the reporting of the findings. FdB: Novartis, Novimmune, Hoffmann-La Roche, SOBI, AbbVie. LC: speaker's fee for Novartis and SOBI. MC: consultancy fees for Novartis, SOBI and Abbvie. KLD: consultancy work for SOBI and Novartis, donations, honorariums and unrestricted grants have been received by the Autoinflammatory Alliance from SOBI, Novartis, and Regeneron. RG: consultant for Abbvie. RGM: study support from SOBI, Novartis, Regeneron. VH: honorariums and educational grants from Novartis, honorariums from SOBI. MH: consultant for Novartis. HMH: consultant for Novartis and SOBI, and speaker for Novartis. TK: research grant by Novartis, speaker's bureau by Roche, BMS, Novartis and SOBI. JKD: consultant/speaker for Novartis and SOBI and has received grant support from SOBI and Novartis. RML: ad board and consultant for Abbvie and Novartis. PQ: investigator, consultant and speaker's bureau for Novartis and SOBI. MG: consultant for and unrestricted grants to Eurofever and speaker's fee from SOBI and Novartis. YU: Y. Uziel Grant/Research Support from Novartis, Consultant for Novartis, Speaker Bureau of Abbvie, Neopharm, Novartis, Roche. JF: consultant for Novartis.

    • Ethics approval The Medical Ethical Committee of the University Medical Centre Utrecht.

    • Provenance and peer review Not commissioned; externally peer reviewed.