Monitoring Disease Activity, Damage and Quality of Life



Systemic inflammation in autoinflammatory diseases can affect nearly all organ systems and hampers patients in their daily life. Ongoing inflammation can lead to irreversible organ damage, such as amyloidosis. Structural assessment of disease activity, damage, quality of life and adherence to therapy is therefore important in the follow-up of these patients. To guide physicians in the monitoring of patients and to unify outcome measures in therapeutic studies, scoring forms for disease activity (AutoInflammatory Disease Activity Index, AIDAI), disease damage (Autoinflammatory Disease Damage Index, ADDI) and patient reported outcomes (Juvenile Autoinflammatory Disease Multidimensional Assessment Report, JAIMAR) have been developed. In addition, an international group of experts developed recommendations for the management of autoinflammatory diseases. The aim of this chapter is to provide an overview of the important aspects of monitoring disease activity, to describe potential organ damage and to elaborate on the validated scoring systems, focusing on the four main monogenic diseases; familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD) and TNF-receptor associated periodic syndrome (TRAPS).


Autoinflammatory diseases Monitoring Treatment Disease activity Quality of life Damage 



Autoinflammatory Disease Damage Index


Autoinflammatory Disease Activity Index


Cryopyrin-associated periodic syndrome


Child Health Questionnaire


Chronic nonbacterial osteomyelitis


C-reactive protein


Deficiency of adenosine deaminase 2


Deficiency of the interleukin-1 receptor antagonist


EUropean League Against Rheumatism


Functional Assessment of Chronic Illness Therapy-Fatigue


Familial Mediterranean fever


Juvenile Autoinflammatory Disease Multidimensional Assessment Report


Macrophage activation syndrome


Medication Adherence Scale in Familial Mediterranean Fever


Mevalonate kinase deficiency


Muckle-Wells syndrome


Muckle-Wells Syndrome Disease Activity Score


Neonatal onset multisystem inflammatory disease


Pyogenic arthritis, pyoderma gangrenosum and acne


Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis


Physician global assessment


Quality of life


Serum amyloid A


Short Form Health Survey 36


Single Hub and Access point for paediatric Rheumatology in Europe


TNF-receptor associated periodic syndrome


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Laboratory of Translational Immunology, Department Pediatric Immunology and RheumatologyUniversity Medical Center UtrechtUtrechtThe Netherlands
  2. 2.National Referral Centre for Auto-inflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA), Department of Pediatric RheumatologyHôpital Bicêtre, University of Paris Sud, Assistance Publique-Hôpitaux de ParisLe Kremlin-BicêtreFrance

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