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

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 t...

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Autores principales: Monaco, Ashley, Choi, Diane, Uzun, Serife, Maitland, Anne, Riley, Bernadette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9022617/
https://www.ncbi.nlm.nih.gov/pubmed/35449490
http://dx.doi.org/10.1007/s12026-022-09280-1
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author Monaco, Ashley
Choi, Diane
Uzun, Serife
Maitland, Anne
Riley, Bernadette
author_facet Monaco, Ashley
Choi, Diane
Uzun, Serife
Maitland, Anne
Riley, Bernadette
author_sort Monaco, Ashley
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12026-022-09280-1.
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spelling pubmed-90226172022-04-21 Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature Monaco, Ashley Choi, Diane Uzun, Serife Maitland, Anne Riley, Bernadette Immunol Res Review 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12026-022-09280-1. Springer US 2022-04-21 2022 /pmc/articles/PMC9022617/ /pubmed/35449490 http://dx.doi.org/10.1007/s12026-022-09280-1 Text en © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Review
Monaco, Ashley
Choi, Diane
Uzun, Serife
Maitland, Anne
Riley, Bernadette
Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title_full Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title_fullStr Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title_full_unstemmed Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title_short Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
title_sort association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9022617/
https://www.ncbi.nlm.nih.gov/pubmed/35449490
http://dx.doi.org/10.1007/s12026-022-09280-1
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