The vascular Ehlers-Danlos syndrome.
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.
Germain
Dominique P
DP
Clinical Genetics Unit, Hôpital Européen Georges Pompidou, 20 rue Leblanc, Paris 75015, France. dominique.germain@egp.aphp.fr