Cited by 113Connective tissue disorders researchDermatological and Skeletal DisordersCerebrovascular and genetic disorders

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Vascular aspects of the Ehlers-Danlos Syndromes

Malfait, Fransiska·2018·Matrix Biology

DOI 10.1016/j.matbio.2018.04.013

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Abstract

The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e.g. Tenascin-X, collagen type XII), enzymes involved in glycosaminoglycan biosynthesis (β4GalT7 and β3GalT6), dermatan 4-O-sulfotransferase-1 (D4ST1), dermatan sulfate epimerase (DSE)), (putative) transcription factors (ZNF469, PRDM5), components of the complement pathway (C1r, C1s) and an intracellular Zinc transporter (ZIP13). Easy bruising is, to a variable degree, present in all subtypes of EDS. A variable bleeding tendency, manifesting e.g. as gum bleeding, menometrorraghia, postnatal or peri-operative hemorrhage is observed in many EDS-patients of varying EDS subtypes. Life-threatening arterial aneurysms, dissections and ruptures of medium-sized and large arteries are a hallmark of the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. They may however also occur in other EDS subtypes, especially in classical EDS, caused by defects in type V collagen or, rarely, type I collagen, and in kyphoscoliotic EDS, caused by defects in LH1 or FKBP22. These manifestations of vascular fragility and bleeding are usually attributed to fragility of the blood vessel walls and the perivascular connective tissues, but the molecular pathomechanisms underlying these complications are poorly studied. This review summarizes current knowledge on manifestations of vascular fragility in the different EDS subtypes.

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Authors: Malfait, F.
Affiliations: Ghent University Hospital (BE)
Corresponding author: Malfait, Fransiska
ORCID: Malfait, Fransiska
Venue: Matrix Biology
Publisher: Elsevier BV
Published: 2018-10
Volume: 71-72
Pages: 380-395
ISSN: 0945-053X (ISSN-L)
DOI: 10.1016/j.matbio.2018.04.013
OpenAlex: W2800944293
Cited by: 113
References: 128
Citations by year: 2026: 8 · 2025: 11 · 2024: 15 · 2023: 12 · 2022: 10 · 2021: 14 · 2020: 22 · 2019: 19 · 2018: 2
FWCI: 2.00
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Matrix Biology (publishedVersion)
PubMed (publishedVersion)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Funders: Vlaamse regering
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Medicine › Clinical Neurology › Cerebrovascular and genetic disorders
Keywords: Ehlers-Danlos syndrome, vascular fragility, arterial aneurysm, arterial dissection, arterial rupture, bleeding tendency, easy bruising, type III collagen, type V collagen, connective tissue diseases, glycosaminoglycan synthesis
MeSH terms: Collagen, Ehlers-Danlos Syndrome, Extracellular Matrix, Humans, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Mutation, Vascular Diseases, Genetic Predisposition to Disease, Tacrolimus Binding Proteins

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Vascular aspects of the Ehlers-Danlos Syndromes

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