Hamza Hashmi^1,, Muhammad Zubair Afzal²

Ehlers Danlos Syndrome (EDS) type IV is a rare connective tissue disorder that affects skin, visceral and vascular tissue. Diagnosis is often difficult and delayed given absence of hallmark features of a typical EDS. Early recognition of characteristic skin findings may help identify serious and potentially fatal complications. A 19 years old man with a recent spontaneous sigmoid perforation presented with sudden onset of lower abdominal pain. CT abdomen showed left retroperitoneal hematoma. He had worsening abdominal pain, developed hemodynamic instability and suffered a pulseless electrical activity arrest. Labs revealed precipitous drop in hemoglobin and rise in serum lactate level. He was aggressively resuscitated with blood and plasma products. Repeat CT abdomen showed bilateral retroperitoneal hematomas. Abdominal angiogram revealed 23 mm aneurysmal dilatation in infrarenal aorta. An IR guided intra aortic balloon was inflated to secure hemostasis but before an aortic stent graft could be advanced the friable vessel wall started disintegrating. The patient died within 12 hours of admission. Autopsy revealed typical facies with protruding eyes, thin nose and lips and sunken cheeks; a translucent skin with prominent veins and a transmural dissection of abdominal aorta. Genetic testing revealed classical COL 3A1 missense mutation. Vascular EDS is a diagnostic and therapeutic challenge for both primary care and subspecialty physicians. Diagnosis should be suspected in any young patient with distinctive skin findings and/or spontaneous visceral or arterial rupture. Although no treatment is available knowledge of diagnosis is helpful in management of visceral and vascular complications, pregnancy and genetic counseling.

Vascular EhlerDanlos Syndrome, pseudoaneurysm, vascular dissection, perforation, acrogeric face