Germain Dominique P
Clinical Genetics Unit, Hôpital Européen Georges Pompidou, 20 rue Leblanc, Paris 75015, France.
Curr Treat Options Cardiovasc Med. 2006 Apr;8(2):121-7. doi: 10.1007/s11936-006-0004-z.
Vascular Ehlers-Danlos syndrome (EDS) is a life-threatening inherited disorder of connective tissue causing severe arterial and gastrointestinal fragility and rupture, as well as complications of surgical and radiologic interventions. The diagnosis should be considered in patients under the age of 45 years who present with arterial tearing or dissection, colonic perforation, or visceral rupture. As for many orphan diseases, delayed diagnosis can lead to inaccurate care. Therefore, vascular EDS is particularly important to surgeons, radiologists, and obstetricians because knowledge of the diagnosis may help in the management of visceral complications. There are currently no specific treatments for this genetic condition, and medical intervention is limited to symptomatic treatment, precautionary measures, genetic counseling, and prenatal diagnosis. A clinical trial is ongoing to study the effectiveness of beta blockers with vasodilating properties in vascular EDS. Complications require hospitalization, observation in an intensive care unit, and sometimes emergency surgical intervention. CT, echography, and MRI are the most useful imaging modalities. Arteriography is contraindicated. Whenever possible, a wait-and-see attitude with close surveillance is preferable to unwarranted surgery. Surgical treatment carries a high mortality, whereas the mortality rate associated with endovascular treatment is unknown. To improve the likelihood of good surgical outcome, the surgeon must be informed of the patient's condition. The intent of surgery is to control hemorrhage if an artery, with or without aneurysm, has ruptured and to reconstruct the arterial vasculature. For vascular repair, simple procedures should be preferred, because more complex techniques can result in further injury and hemorrhage. Postoperative surveillance must be prolonged with close medical follow-up and serial CT scans. Pregnant women with vascular EDS should be considered high-risk cases and be provided special care.
血管型埃勒斯-当洛综合征（EDS）是一种危及生命的遗传性结缔组织疾病，可导致严重的动脉和胃肠道脆弱性及破裂，以及手术和放射介入的并发症。对于出现动脉撕裂或夹层、结肠穿孔或内脏破裂的45岁以下患者，应考虑进行诊断。与许多罕见病一样，诊断延迟可能导致治疗不准确。因此，血管型EDS对外科医生、放射科医生和产科医生尤为重要，因为了解该诊断可能有助于处理内脏并发症。目前尚无针对这种基因疾病的特效治疗方法，医疗干预仅限于对症治疗、预防措施、遗传咨询和产前诊断。一项临床试验正在进行，以研究具有血管舒张特性的β受体阻滞剂在血管型EDS中的疗效。并发症需要住院治疗，在重症监护病房观察，有时还需要进行紧急手术干预。CT、超声和MRI是最有用的成像方式。动脉造影术是禁忌的。只要有可能，采取密切监测的观望态度优于不必要的手术。手术治疗死亡率高，而血管内治疗的死亡率尚不清楚。为提高手术良好预后的可能性，外科医生必须了解患者的病情。手术的目的是在动脉（无论有无动脉瘤）破裂时控制出血，并重建动脉血管系统。对于血管修复，应首选简单的手术方法，因为更复杂的技术可能导致进一步的损伤和出血。术后必须延长监测时间，进行密切的医学随访和系列CT扫描。患有血管型EDS的孕妇应被视为高危病例，并给予特殊护理。
