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Clinical Approach to the Diagnosis of Autoinflammatory Diseases

  • Philip J. HashkesEmail author
  • Karyl S. Barron
  • Ronald M. Laxer
Chapter

Abstract

In this chapter, we present the clinical approach to patients with a suspected autoinflammatory syndrome. We describe a systematic approach to the history, physical examination, system involvement and laboratory testing and offer an algorithm on investigative pathways for these patients. We discuss the various diagnostic criteria currently used for specific autoinflammatory diseases. Finally, we propose an approach, including empiric treatment and management, to the many patients with suspected autoinflammatory syndromes who remain undiagnosed, despite a comprehensive work-up, including genetic testing.

Keywords

Autoinflammatory syndrome Diagnosis Management Diagnostic criteria 

Abbreviations

AGS

Aicardi-Goutières syndrome

AIDAI

Autoinflammatory diseases activity index

AP1S3

Adaptor related protein complex 1 sigma 3 subunit

APLAID

Autoinflammation and PLAID

CAPS

Cryopyrin-associated periodic syndromes

CARD

Caspase activation and recruitment domain

CNO

Chronic non-bacterial osteomyelitis

DADA2

Deficiency of adenosine deaminase 2

DIRA

Deficiency of the IL-1 receptor antagonist

DITRA

Deficiency of the IL-36 receptor antagonist (generalized pustular psoriasis)

FCAS

Familial cold autoinflammatory syndrome

FMF

Familial Mediterranean fever

IBD

Inflammatory bowel disease

IL

Interleukin

MAS

Macrophage activation syndrome

MKD

Mevalonate kinase deficiency

MWS

Muckle-Wells syndrome

NLRC

Nucleotide-binding oligomerization (NOD), leucine rich repeats and CARD domain containing

NLRP

Nucleotide-binding domain, leucine-rich repeat, and pyrin domain containing

NOMID

Neonatal-onset multisystem inflammatory disease

PAAND

Pyrin-associated autoinflammation with neutrophilic dermatosis

PAPA

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

PFAPA

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis

PFIT

Periodic fever, immunodeficiency and thrombocytopenia

PLAID

PLCγ2-associated antibody deficiency and immune dysregulation

PSTPIP1

Proline-serine-threonine phosphatase-interacting protein 1

SAPHO

Synovitis, acne, pustulosis, hyperostosis and osteitis

SAVI

STING-associated vasculopathy with onset in infancy

SIFD

Sideroblastic anemia, immunodeficiency, fevers, and developmental delay

sJIA

Systemic juvenile idiopathic arthritis

TNF

Tumor necrosis factor

TRAPS

Tumor necrosis factor receptor-associated periodic syndrome

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Philip J. Hashkes
    • 1
    Email author
  • Karyl S. Barron
    • 2
  • Ronald M. Laxer
    • 3
  1. 1.Pediatric Rheumatology UnitShaare Zedek Medical Center and Hebrew UniversityJerusalemIsrael
  2. 2.National Institute of Allergy and Infectious Diseases, National Institutes of HealthBethesdaUSA
  3. 3.Department Paediatrics, Division of RheumatologyThe Hospital for Sick Children and University of TorontoTorontoCanada

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