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Monitoring Disease Activity, Damage and Quality of Life

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Textbook of Autoinflammation

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Abstract

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).

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Abbreviations

ADDI:

Autoinflammatory Disease Damage Index

AIDAI:

Autoinflammatory Disease Activity Index

CAPS:

Cryopyrin-associated periodic syndrome

CHQ:

Child Health Questionnaire

CNO:

Chronic nonbacterial osteomyelitis

CRP:

C-reactive protein

DADA2:

Deficiency of adenosine deaminase 2

DIRA:

Deficiency of the interleukin-1 receptor antagonist

EULAR:

EUropean League Against Rheumatism

FACIT:

Functional Assessment of Chronic Illness Therapy-Fatigue

FMF:

Familial Mediterranean fever

JAIMAR:

Juvenile Autoinflammatory Disease Multidimensional Assessment Report

MAS:

Macrophage activation syndrome

MASIF:

Medication Adherence Scale in Familial Mediterranean Fever

MKD:

Mevalonate kinase deficiency

MWS:

Muckle-Wells syndrome

MWS-DAS:

Muckle-Wells Syndrome Disease Activity Score

NOMID:

Neonatal onset multisystem inflammatory disease

PAPA:

Pyogenic arthritis, pyoderma gangrenosum and acne

PFAPA:

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis

PGA:

Physician global assessment

QoL:

Quality of life

SAA:

Serum amyloid A

SF36:

Short Form Health Survey 36

SHARE:

Single Hub and Access point for paediatric Rheumatology in Europe

TRAPS:

TNF-receptor associated periodic syndrome

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Authors and Affiliations

  1. Laboratory of Translational Immunology, Department Pediatric Immunology and Rheumatology, University Medical Center Utrecht, Utrecht, The Netherlands

    Nienke ter Haar

  2. National Referral Centre for Auto-inflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA), Department of Pediatric Rheumatology, Hôpital Bicêtre, University of Paris Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France

    Maryam Piram & Isabelle Koné-Paut

Authors
  1. Nienke ter Haar
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  2. Maryam Piram
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  3. Isabelle Koné-Paut
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Corresponding author

Correspondence to Isabelle Koné-Paut .

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Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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ter Haar, N., Piram, M., Koné-Paut, I. (2019). Monitoring Disease Activity, Damage and Quality of Life. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_13

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  • DOI: https://doi.org/10.1007/978-3-319-98605-0_13

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