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Monitoring Disease Activity, Damage and Quality of Life

  • Nienke ter Haar
  • Maryam Piram
  • Isabelle Koné-PautEmail author
Chapter

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).

Keywords

Autoinflammatory diseases Monitoring Treatment Disease activity Quality of life Damage 

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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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Nienke ter Haar
    • 1
  • Maryam Piram
    • 2
  • Isabelle Koné-Paut
    • 2
    Email author
  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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