PT  - JOURNAL ARTICLE
AU  - Chloe Angwin
AU  - Angela F Brady
AU  - F Michael Pope
AU  - Anthony Vandersteen
AU  - Duncan Baker
AU  - Harveer Cheema
AU  - Glenda Sobey
AU  - Diana Johnson
AU  - Kate von Klemperer
AU  - Hanadi Kazkaz
AU  - Fleur van Dijk
AU  - Neeti Ghali
TI  - Arterial complications in classical Ehlers-Danlos syndrome: a case series
AID  - 10.1136/jmedgenet-2019-106689
DP  - 2020 Nov 01
TA  - Journal of Medical Genetics
PG  - 769--776
VI  - 57
IP  - 11
4099  - http://jmg.bmj.com/content/57/11/769.short
4100  - http://jmg.bmj.com/content/57/11/769.full
SO  - J Med Genet2020 Nov 01; 57
AB  - 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.