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Autoinflammatory Diseases with Periodic Fevers.

Erdal Sag1, Yelda Bilginer2, Seza Ozen3

  • 1Institute of Child Health, Pediatric Autoinflammatory Disease Programme, Hacettepe University, Ankara, Turkey.

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|June 21, 2017
PubMed
Summary
This summary is machine-generated.

Autoinflammatory syndromes like FMF, CAPS, TRAPS, and HIDS/MVKD are increasingly recognized. This review summarizes the latest diagnostic and treatment recommendations for these rare inflammatory diseases.

Keywords:
Autoinflammatory syndromesPeriodic fever diseases

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Area of Science:

  • Rheumatology
  • Immunology
  • Genetics

Background:

  • Autoinflammatory syndromes are a group of rare genetic disorders characterized by recurrent episodes of systemic inflammation.
  • These conditions are increasingly recognized and pose diagnostic challenges in various clinical settings.
  • Key syndromes include Familial Mediterranean Fever (FMF), Cryopyrin-Associated Periodic Syndromes (CAPS), Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS), and Hyperimmunoglobulinemia D with Periodic Fever Syndrome/Mevalonate Kinase Deficiency (HIDS/MVKD).

Purpose of the Study:

  • To increase awareness of emerging autoinflammatory syndromes.
  • To provide an updated review of the latest recommendations for diagnosing, managing, and treating patients with these conditions.
  • To consolidate current knowledge and guide clinical practice for these complex diseases.

Main Methods:

  • This review synthesizes recent collaborative work and expert recommendations.
  • It summarizes diagnostic criteria and therapeutic strategies for FMF, CAPS, TRAPS, and HIDS/MVKD.
  • The focus is on evidence-based guidelines for patient care.

Main Results:

  • Familial Mediterranean Fever (FMF) is the most prevalent, with ongoing research into its pathogenesis.
  • Cryopyrin-Associated Periodic Syndromes (CAPS) can be effectively treated with anti-interleukin-1 therapy.
  • Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS) often experiences diagnostic delays, necessitating greater physician awareness.
  • Hyperimmunoglobulinemia D with Periodic Fever Syndrome/Mevalonate Kinase Deficiency (HIDS/MVKD) presents a wide spectrum of manifestations, requiring further biomarker research.

Conclusions:

  • Early recognition and accurate diagnosis of autoinflammatory syndromes are crucial.
  • Adherence to updated management and treatment guidelines can significantly improve patient outcomes.
  • Continued research is essential to further elucidate the pathogenesis and optimize the care of patients with these rare diseases.