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Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

Laura Caliogna1, Viviana Guerrieri1, Salvatore Annunziata1

  • 1Orthopedic and Traumatology Clinic, IRCCS Policlinico San Matteo Foundation, 27100 Pavia, Italy.

International Journal of Molecular Sciences
|September 28, 2021
PubMed

Insights

Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders. This review focuses on classic and hypermobile EDS, seeking biomarkers for diagnosis and patient follow-up, as the genetic cause of hEDS remains unknown.

Area of Science:

  • Genetics
  • Rheumatology
  • Dermatology

Background:

  • Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders affecting multiple organs due to abnormal collagen synthesis.
  • EDS has a long history, with early descriptions dating back to Hippocrates.
  • Recent advancements include identifying gene variants, establishing new diagnostic criteria, and developing classification models for overlapping conditions.

Purpose of the Study:

  • To review classic and hypermobile Ehlers-Danlos syndromes (EDS).
  • To identify potential biomarkers for diagnosing and monitoring EDS patients.
  • To address the unknown genetic basis of hypermobile EDS (hEDS).

Main Methods:

  • Literature review of genetic and molecular studies on EDS.
  • Focus on classic EDS and hypermobile EDS (hEDS).
  • Exploration of potential diagnostic and follow-up biomarkers.

Main Results:

  • Multiple gene variants for specific EDS subtypes have been identified.
  • New clinical diagnostic criteria and classification models are emerging.
  • The genetic etiology of hypermobile EDS (hEDS) remains elusive.

Conclusions:

  • Distinguishing between EDS subtypes and similar disorders is crucial for patient care.
  • Biomarker identification is essential for accurate diagnosis and management of EDS.
  • Ongoing research aims to elucidate the genetic basis of EDS, particularly hEDS.

Keywords:
Ehlers-Danlos syndromebiomarkersdiagnosisfollow up

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