Arterial complications in classical Ehlers-Danlos syndrome: a case series.
clinical genetics
dermatology
other cardiovascular medicine
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
07
11
2019
revised:
14
02
2020
accepted:
17
02
2020
pubmed:
30
5
2020
medline:
9
7
2021
entrez:
30
5
2020
Statut:
ppublish
Résumé
The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in A cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed. Seven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in There is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient's history and their family's history of vascular events.
Sections du résumé
BACKGROUND
The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in
METHODS
A cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed.
RESULTS
Seven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in
CONCLUSION
There is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient's history and their family's history of vascular events.
Identifiants
pubmed: 32467296
pii: jmedgenet-2019-106689
doi: 10.1136/jmedgenet-2019-106689
doi:
Substances chimiques
COL5A1 protein, human
0
Collagen Type V
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
769-776Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.