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.
- clinical genetics
- other cardiovascular medicine
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Contributors CA initiated writing of manuscript. AFB saw patients and reviewed manuscript. FMP saw patients and reviewed manuscript. AV saw patients and reviewed manuscript. DB performed genetic testing and reviewed variants and molecular methods. HC performed genetic testing and reviewed variants. GS saw one patient and reviewed manuscript. KvK saw patients and reviewed manuscript. HK saw patients and reviewed manuscript. NG saw patients, wrote manuscript and modified manuscript. DJ saw patient with GS. FvD led the service where patients were seen, saw patients, overseeing review of manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.