Mast cell disorders in Ehlers–Danlos syndrome

@article{Seneviratne2017MastCD,
  title={Mast cell disorders in Ehlers–Danlos syndrome},
  author={Suranjith L Seneviratne and Anne Maitland and Lawrence B. Afrin},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2017},
  volume={175},
  pages={226 - 236}
}
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse… 

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

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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.

Mast Cell Biology at Molecular Level: a Comprehensive Review

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Recent findings and reports are reviewed that help to understand the MC biology, pathology, and physiology of diseases with MC involvement.

Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome

  • L. Afrin
  • Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2021
TLDR
It is suggested that research efforts to identify the genetic roots of hEDS should also consider those of MCAS, as MCAS can drive extraordinary arrays of pathologies, most commonly of inflammatory, allergic, and dystrophic natures.

In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”

  • J. Vengoechea
  • Medicine
    American journal of medical genetics. Part A
  • 2018
TLDR
The authors purport to link mast cell disorders with EDS, but the evidence they provide for a link to EDS is quite thin, and there is a surprising lack of well-designed observational studies attempting to measure any sort of biomarker to provide more evidence.

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Gastroenterologists who become aware of mast cell activation syndrome can dramatically improve the quality of life for their patients who previously have been labeled with a functional gastrointestinal disorder.

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A closer look is taken at the role of mast cells in the pathophysiology of psoriasis, which is usually connected with a fast immune response, not only in allergies but also a protective response to microbial antigens.

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In this review, the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS are summarized with a focus on the hypermobile type.

Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain. The neurological manifestations in EDS are often

Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder

TLDR
A cohort analysis of patients seen in a community‐based Allergy/Immunology clinic from 2015 to 2019 searched for diagnostic codes for Ig Def disorders, hypermobility syndrome, hypermobile/Ehlers‐Danlos syndrome, and MCADs and found the presence of MCAD and Ig Def should be explored in patients with hEDS/HSD.
...

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