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Arterial complications in classical Ehlers-Danlos syndrome: a case series
Chloe Angwin1, Angela F Brady1, F Michael Pope1
1National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, UK.
Insights
Classical Ehlers-Danlos syndrome (cEDS) patients may face an increased risk of arterial complications, particularly involving medium-sized vessels. Awareness and tailored management are crucial for these individuals.
Area of Science:
- Genetics
- Vascular Medicine
- Connective Tissue Disorders
Background:
- Ehlers-Danlos syndromes (EDS) encompass diverse connective tissue disorders.
- Classical EDS (cEDS) is typically linked to COL5A1/COL5A2 variants, presenting with skin hyperextensibility, scarring, and joint hypermobility.
- While vascular EDS is known for arterial issues, rare cases occur in cEDS.
Observation:
- A UK cohort of 154 clinically diagnosed cEDS patients was studied.
- Seven patients (4.5%) with cEDS experienced arterial complications, primarily affecting medium-sized vessels.
- Two cases involved abdominal aortic aneurysms, with no unique clinical indicators identified in this subgroup.
Findings:
- Genetic analysis revealed pathogenic or likely pathogenic variants in COL5A1 in affected patients.
- The study identified a potential association between cEDS and arterial complications.
- No distinct clinical features differentiated cEDS patients with arterial events from those without.
Implications:
- Clinicians should consider the possibility of arterial complications in cEDS patients.
- Vigilance is recommended for patients presenting with arterial issues and cEDS features.
- Individualized long-term management plans are essential for cEDS families with a history of vascular events.
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.
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