PDF(Pubmed)
Abstract：
Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal perinatal complications such as uterine rupture. Although hypermobile Ehlers-Danlos syndrome is less likely to cause fatal complications, symptoms such as arthralgia, hip dislocation, and depression may be seen throughout pregnancy. We report here a case of twin pregnancy in which Ehlers-Danlos syndrome was first suspected at 19 weeks of gestation. Vascular Ehlers-Danlos syndrome could not be ruled out based on family medical history, making it difficult to determine the perinatal management strategy. Prompt genetic testing did however rule out the vascular type and the patient was diagnosed with hypermobile Ehlers-Danlos syndrome from the clinical symptoms, enabling us to manage the pregnancy safely until 34 weeks of gestation.
摘要：
Ehlers-Danlos综合征是一种罕见的遗传性疾病，根据疾病类型而表现出多种病理。其中,血管Ehlers-Danlos综合征需要极其谨慎的治疗,因为已有许多关于子宫破裂等致命围产期并发症的报道.尽管超机动Ehlers-Danlos综合征不太可能导致致命的并发症，关节痛等症状，髋关节脱位,在整个怀孕期间可能会看到抑郁症。我们在此报告一例双胎妊娠，其中Ehlers-Danlos综合征在妊娠19周时首次被怀疑。根据家族病史不能排除血管性Ehlers-Danlos综合征，这使得很难确定围产期管理策略。然而，迅速的基因检测确实排除了血管类型，患者从临床症状中被诊断出患有高流动性Ehlers-Danlos综合征，使我们能够安全地管理怀孕，直到怀孕34周。
