VASCULAR MANIFESTATIONS AND OR CARDIAC SI GNS IN TYPE-IV EHLERS-DANLOS SYNDROME - A SERIES OF 9 CASES/

Type IV Ehlers-Danlos syndrome, a rare disease caused by abnormal synt hesis of type III collagen, often leads to vascular fragility. We repo rt 9 cases (6 men and 3 women, mean age 35 years). For 7 of the patien ts, the inaugural signs were arterial complications including haemoper itoneum in 2 patients with multiple aneurysmal dystrophy of the abdomi nal 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 punct ure. Other vascular manifestations were acrosyndrome (n = 4), varicose veins (9 = 3), and prolapsus of the mitral valve (n = 2). In addition , 8 of the 9 patients presented extravascular signs. There was a histo ry of familial disease in 5 cases. Pregnancy was completed to term in three patients: a cesarean section was required in one case and intra- uterin growth retardation was seen in 2. Morbidity was important with hemiparesia, blindness and paraparesia sequellae. One patient died fro m haemorrhage. This series of patients with type IV Ehlers-Danlos synd rome illustrates the severity of this disease whose prevalence is ofte n underestimated. The disease is transmitted by autosomal dominant inh eritance, underscoring the importance of familial testing for early di agnosis. Clinicians should be aware of the vascular manifestations and avoid invasive punctures or operations except in exceptional indicati ons.