Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons

Mareesa Islam, Christopher Chang, M. Eric Gershwin

Research output: Contribution to journalReview articlepeer-review

Abstract

Ehlers-Danlos Syndrome (EDS) is a family of multisystemic hereditary connective tissue disorders now comprised of 13 recognized subtypes, classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochlasia, dermosparaxis, kyphoscoliotic, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal, as designated by the most recent 2017 International classification system. Clinical presentation of this disease can range from mild manifestations including skin hyperextensibility and joint hypermobility, to more severe complications such as vascular and organ rupture. While there may be accompanying inflammation in some of the subtypes of EDS, the pathogenic mechanisms have not been clearly defined. Thorough evaluation incorporates clinical examination, family history, laboratory testing, and imaging. In recent years, studies have identified multiple gene variants involved in the pathogenesis of specific EDS subtypes as well as elaborate clinical diagnostic criteria and classification models used to differentiate overlapping conditions. The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant polycystic kidney disease, osteogenesis Imperfecta Type 1, fibromyalgia, depression, and chronic fatigue syndrome. Surgical treatment is reserved for complications, or emergencies involving vascular or orthopedic injury because of the risk of poor wound healing. Management techniques each have their own consequences and benefits, which will also be discussed in this review article. Patients affected by this spectrum of disorders are impacted both phenotypically and psychosocially, diminishing their quality of life.

Original languageEnglish (US)
Article number100077
JournalJournal of Translational Autoimmunity
Volume4
DOIs
StatePublished - Jan 2021

Keywords

  • Aneurysms
  • Collagen
  • Easy bruising
  • Fragility
  • Hyperextensibility
  • Hypermobility
  • Immunodysregulation
  • Organ rupture

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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