Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature

Ashley Monaco, Diane Choi, Serife Uzun, Anne Maitland, Bernadette Riley

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations

Abstract

Ehlers–Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with rheumatologic and inflammatory conditions. Evidence is still needed to determine the pathophysiology of hEDS; however, the association among these conditions and their prevalence in hEDS/HSD may be explained through consideration of persistent chronic inflammation contributing to a disruption of the connective tissue. Aberrant mast cell activation has been shown to play a role in disruption of connective tissue integrity through activity of its mediators including histamine and tryptase which affects multiple organ systems resulting in mast cell activation disorders (MCAD). The overlap of findings associated with MCAD and the immune-mediated and rheumatologic conditions in patients with hEDS/HSD may provide an explanation for the relationship among these conditions and the presence of chronic inflammatory processes in these patients. It is clear that a multidisciplinary approach is required for the treatment of patients with EDS. However, it is also important for clinicians to consider the summarized symptoms and MCAD-associated characteristics in patients with multiple complaints as possible manifestations of connective tissue disorders, in order to potentially aid in establishing an early diagnosis of EDS.

Original languageEnglish
Pages (from-to)419-431
Number of pages13
JournalImmunologic Research
Volume70
Issue number4
DOIs
StatePublished - Aug 2022
Externally publishedYes

Keywords

  • Allergy
  • Ehlers–danlos syndrome
  • Histamine
  • Immunology
  • Joint hypermobility
  • Mast cell
  • Mast cell activation disorder
  • Musculoskeletal disease
  • Primary immunodeficiency disease
  • Rheumatic disease
  • Tryptase

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