[Vascular and/or cardiac manifestations of type IV Ehlers-Danlos syndrome. 9 cases]

Type IV Ehlers-Danlos syndrome, a rare disease caused by abnormal synthesis of type III collagen, often leads to vascular fragility. We report 9 cases (6 men and 3 women, mean age 35 years). For 7 of the patients, the inaugural signs were arterial complications including haemoperitoneum in 2 patients with multiple aneurysmal dystrophy of the abdominal arteries, one case of ruptured subclavian artery, two dissections of the renal artery, one case with rupture of a cerebral aneurysm, one rupture of the mesenteric artery and a haematoma after arterial puncture. Other vascular manifestations were acrosyndrome (n = 4), varicose veins (n = 3), and prolapsus of the mitral valve (n = 2). In addition, 8 of the 9 patients presented extravascular signs. There was a history of familial disease in 5 cases. Pregnancy was completed to term in three patients: a cesarean section was required in one case and intra-uterine growth retardation was seen in 2. Morbidity was important with hemiparesia, blindness and paraparesis sequellae. One patient died from haemorrhage. This series of patients with type IV Ehlers-Danlos syndrome illustrates the severity of this disease whose prevalence is often underestimated. The disease is transmitted by autosomal dominant inheritance, underscoring the importance of familial testing for early diagnosis. Clinicians should be aware of the vascular manifestations and avoid invasive punctures or operations except in exceptional indications.