Mast cell disorders in Ehlers–Danlos syndrome

  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},
  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

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

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
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
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.

Mast Cell Activation Syndrome: A Primer for the Gastroenterologist

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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Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

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

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.



Mast Cells and Irritable Bowel Syndrome: From the Bench to the Bedside

This review focuses on recent advances in the role of mast cells in IBS, with particular emphasis on bridging experimental data with clinical therapeutics for IBS patients.

Mast cells in inflammatory arthritis

This finding highlights the results of more than 20 years of research indicating that mast cells are frequent participants in non-allergic immune responses as well as in allergy.

Basic Science for the Clinician 53: Mast Cells

  • L. Sigal
  • Medicine, Biology
    Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
  • 2011
Better insights into mast cell functions and mast cell-derived effector molecules should command their attention as the authors move forward in better understanding disease immunopathogenesis and directed intelligent therapeutics development.

A concise, practical guide to diagnostic assessment for mast cell activation disease

It is reasonable to suspect MCAD when symptoms and signs of MC activation are present and no other diagnosis better accounting for the full range of findings is present, and testing is fraught with potential pitfalls which can easily yield false negatives.

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This review summarizes the knowledge of mast cells in innate and acquired immunity, allergic inflammation and tissue homeostasis, as well as some of the regulatory mechanisms that control mast cell development, phenotypic determination, and function, particularly in the context of mucosal surfaces.

Mast cells in autoimmune disease

In patients with metastatic urothelial cancer, a TGF-β -response signature in cancer-associated fibroblasts is associated with non-responsiveness to PD-L1 blockade in excluded tumors only, whereas tumor-mutational burden correlates with responsiveness in inflamed tumors only.

Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal

Criteria for diagnosing MCA and related disorders are defined by robust and generally applicable criteria and should assist in the identification and diagnosis of patients with MCAS, and in avoiding misdiagnoses or overinterpretation of clinical symptoms in daily practice.

Mast cell activation syndrome: a newly recognized disorder with systemic clinical manifestations.

Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms.