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The SAPHO syndrome and genetics - discoveries in need of replication

Frank A Wollheim1

  • 1Department of Rheumatology, University of Lund, S-22185, Sweden. frank.wollheim@med.lu.se.

Current Rheumatology Reviews
|September 9, 2014
PubMed

Insights

SAPHO syndrome and CMRO are chronic conditions with unknown causes. Research suggests autoinflammatory triggers, possibly environmental, rather than autoimmune factors, but more studies are needed.

Area of Science:

  • Rheumatology
  • Immunology
  • Genetics

Background:

  • SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) and Chronic Recurrent Multifocal Osteomyelitis (CMRO) are rare chronic inflammatory diseases.
  • The exact etiology of SAPHO and CMRO remains unknown, with ongoing debate regarding potential triggers and underlying mechanisms.

Purpose of the Study:

  • To review current understanding of SAPHO and CMRO pathogenesis.
  • To explore potential environmental, microbial, genetic, and immunological factors implicated in these conditions.
  • To highlight areas requiring further research.

Main Methods:

  • Literature review of existing studies on SAPHO and CMRO.
  • Analysis of evidence supporting different pathogenetic models (autoinflammatory vs. autoimmune).
  • Examination of findings from animal models and human patient studies.

Main Results:

  • No evidence supports a septic etiology for SAPHO/CMRO.
  • Monogenic animal models (cmo, Lupo) have not been replicated in human disease.
  • Unconfirmed studies suggest impaired p53 formation, increased IL-10, and reduced ROS responses in SAPHO patients.
  • Evidence leans towards an autoinflammatory rather than autoimmune pathogenesis.
  • Potential susceptibility genes on chromosomes 1 and 18 require confirmation.

Conclusions:

  • The pathogenesis of SAPHO and CMRO likely involves autoinflammatory processes, potentially triggered by environmental factors.
  • Further large-scale studies are essential to validate preliminary findings and elucidate the genetic and immunological underpinnings.
  • Clarifying the etiology is crucial for developing targeted therapeutic strategies.

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