Arterial complications in classical Ehlers-Danlos syndrome: a case series.
J Med Genet
; 57(11): 769-776, 2020 11.
Article
de En
| MEDLINE
| ID: mdl-32467296
ABSTRACT
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 COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of vascular EDS although individual cases of arterial events in cEDS have been reported.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 COL5A1) who had experienced arterial complications were identified. Arterial complications mostly involved medium-sized vessels and also two abdominal aortic aneurysms. No unique clinical features were identified in this group of patients.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.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladies du tissu conjonctif
/
Collagène de type V
/
Syndrome d'Ehlers-Danlos
Type d'étude:
Prognostic_studies
Limites:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
J Med Genet
Année:
2020
Type de document:
Article
Pays d'affiliation:
Royaume-Uni