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Autoinflammatory Diseases with Periodic Fevers

Current Rheumatology Reports volume 19, Article number: 41 (2017) Cite this article

Abstract

Purpose of Review

One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients.

Recent Findings

Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation. Recently much collaborative work has been done to understand the characteristics of these patients and to develop recommendations to guide the physicians in the care of these patients. These recent recommendations will be summarized for all four diseases.

Summary

FMF is the most common periodic fever disease. We need to further understand the pathogenesis and the role of single mutations in the disease. Recently, the management and treatment of the disease have been nicely reviewed. CAPS is another interesting disease associated with severe complications. Anti-interleukin-1 (anti-IL-1) treatment provides cure for these patients. TRAPS is characterized by the longest delay in diagnosis; thus, both pediatricians and internists should be aware of the characteristic features and the follow-up of these patients. HIDS/MVKD is another autoinflammatory diseases characterized with fever attacks. The spectrum of disease manifestation is rather large in this disease, and we need further research on biomarkers for the optimal management of these patients.

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Fig. 1

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Author information

Authors and Affiliations

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

    Erdal Sag

  2. Department of Pediatric Rheumatology, Hacettepe University Ihsan Dogramaci Children’s Hospital, 06230, Sihhiye, Ankara, Turkey

    Yelda Bilginer & Seza Ozen

Authors
  1. Erdal Sag
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  2. Yelda Bilginer
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  3. Seza Ozen
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Correspondence to Seza Ozen.

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Conflict of Interest

Dr. Ozen reports personal fees NOVARTIS, SOBI, and R-PHARM, outside the submitted work.

Erdal Sag and Yelda Bilginer declare that they have no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Pediatric Rheumatology

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Sag, E., Bilginer, Y. & Ozen, S. Autoinflammatory Diseases with Periodic Fevers. Curr Rheumatol Rep 19, 41 (2017). https://doi.org/10.1007/s11926-017-0670-8

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Keywords

  • Autoinflammatory syndromes
  • Periodic fever diseases