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

Hypermobile Ehlers–Danlos syndrome (hEDS) is the most common type of EDS, yet has remained steadfastly inscrutable vis‐à‐vis efforts to identify its cellular, molecular, and pathophysiologic roots. Once thought to principally affect just connective tissues, hEDS is now appreciated to be a multisyste...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2021-12, Vol.187 (4), p.466-472
Main Author: Afrin, Lawrence B.
Format: Article
Language:English
Subjects:
Cell activation
Connective tissue diseases
Connective tissues
Disorders
Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - genetics
Genetics
Heterogeneity
Humans
hypermobility
Inflammation
mast cell activation disease
Mast Cell Activation Syndrome
Mastocytosis
medical hypothesis
Signs and symptoms
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Summary:Hypermobile Ehlers–Danlos syndrome (hEDS) is the most common type of EDS, yet has remained steadfastly inscrutable vis‐à‐vis efforts to identify its cellular, molecular, and pathophysiologic roots. Once thought to principally affect just connective tissues, hEDS is now appreciated to be a multisystem disease of great heterogeneity with many symptoms and findings difficult to attribute solely to disordered connective tissue development. In the last decade, there has been growth in the appreciation of the existence of a wide range of disorders of chronic inappropriate mast cell (MC) activation (a large heterogeneous pool of MC activation syndromes [MCAS]) distinguishable from other MC disorders such as rare neoplastic mastocytosis. Via chronic aberrant release of the MC's vast repertoire of potent mediators, MCAS can drive extraordinary arrays of pathologies, most commonly of inflammatory, allergic, and dystrophic natures. Although hEDS is seen in only a minority of MCAS cases, limited studies have identified an association between hEDS and MCAS, fueling speculation that certain variants of MCAS may drive hEDS. No laboratory studies probing cellular or molecular linkages between hEDS and MCAS have been conducted yet, and research efforts to identify the genetic roots of hEDS should also consider those of MCAS.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31944