National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, UK.
IWK Health Centre, Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.
J Med Genet. 2020 Nov;57(11):769-776. doi: 10.1136/jmedgenet-2019-106689. Epub 2020 May 28.
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 or . 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.
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 ) 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.
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.
埃勒斯-当洛斯综合征（EDS）是一组结缔组织疾病，有几种公认的类型。患有 EDS 类型的患者结缔组织异常，导致不同程度的关节过度活动、皮肤和血管脆弱以及组织普遍脆弱。经典 EDS（cEDS）通常是由于 或 中的显性致病变异引起的。cEDS 的主要特征是皮肤过度伸展、萎缩性瘢痕和关节过度活动。尽管已经报道了 cEDS 中的动脉事件的个别病例，但动脉并发症更典型地是血管 EDS 的特征。
对来自英国的 154 名临床诊断为 cEDS 的患者队列进行了分析。
确定了 7 名（4.5%）患有动脉并发症的 cEDS 诊断患者（4 名致病性、1 名可能致病性和 2 名意义不明的变异体在 中）。动脉并发症主要涉及中等大小的血管，也有两个腹主动脉瘤。在这组患者中没有发现独特的临床特征。
尽管尚未明确，但 cEDS 患者发生动脉并发症的风险可能增加。当遇到有动脉并发症和 cEDS 特征的患者时，临床医生需要意识到这种可能性。对有 cEDS 和血管并发症的家族进行长期管理，应根据患者的病史和家族的血管事件史进行个体化定制。
