PDF(Pubmed)
Abstract：
UNASSIGNED: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease.
UNASSIGNED: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.
UNASSIGNED: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03).
UNASSIGNED: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.
UNASSIGNED: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.
UNASSIGNED: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03).
UNASSIGNED: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.
摘要：
■血管Ehlers-Danlos综合征（vEDS）是一种罕见的结缔组织疾病，有很高的动脉风险，肠,子宫破裂,由COL3A1中的杂合致病变异引起。这项队列研究的目的是提供对vEDS自然史的进一步见解，并描述荷兰多中心队列中的基因型-表型相关性，以优化患者护理并提高对该疾病的认识。
■包括整个荷兰的vEDS个人。通过分子和临床数据的回顾性分析，结合一次性体检。
■共有142个人（50%为女性）参加了这项研究，包括46名患者（32%）。基因诊断时的总体中位年龄为41.0岁。超过一半的指标患者（54.3％）和亲属（53.1％）的身体外观高度提示vEDS。在这些个体中,重大事件并不频繁(P=0.90)，但发生在年龄较小(P=0.01)。与女性相比，男性发生重大事件的频率更高，年龄更小（分别为P<0.001和P=0.004）。男性主动脉瘤（P=0.003）和气胸（P=0.029）更常见。在胶原蛋白螺旋结构域的第一季度具有COL3A1变体的个体中，主动脉夹层更为频繁（P=0.03）。
■男性,COL3A1变体的类型和位置，和身体外观高度提示vEDS是主要事件发生和/或早期发病的危险因素。这项针对荷兰vEDS患者的国家多中心队列研究为改进诊断指南提供了宝贵的基础。后续行动,以及对vEDS患者的治疗。
■包括整个荷兰的vEDS个人。通过分子和临床数据的回顾性分析，结合一次性体检。
■共有142个人（50%为女性）参加了这项研究，包括46名患者（32%）。基因诊断时的总体中位年龄为41.0岁。超过一半的指标患者（54.3％）和亲属（53.1％）的身体外观高度提示vEDS。在这些个体中,重大事件并不频繁(P=0.90)，但发生在年龄较小(P=0.01)。与女性相比，男性发生重大事件的频率更高，年龄更小（分别为P<0.001和P=0.004）。男性主动脉瘤（P=0.003）和气胸（P=0.029）更常见。在胶原蛋白螺旋结构域的第一季度具有COL3A1变体的个体中，主动脉夹层更为频繁（P=0.03）。
■男性,COL3A1变体的类型和位置，和身体外观高度提示vEDS是主要事件发生和/或早期发病的危险因素。这项针对荷兰vEDS患者的国家多中心队列研究为改进诊断指南提供了宝贵的基础。后续行动,以及对vEDS患者的治疗。
