title: Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.
abstract: Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation). The vascular type accounts for less than 4% of all Ehlers-Danlos cases and usually has a poor prognosis due to life threatening vascular ruptures and difficult, frequently unsuccessful surgical and vascular interventions. In 70% of cases, vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign. We present a case of genetically proven vascular Ehlers-Danlos with fatal recurrent retroperitoneal hemorrhages secondary to a ruptured right common iliac artery dissection in a 30-year-old male. This case highlights the need to suspect collagen vascular disorders when a young adult presents with unexplained retroperitoneal hemorrhage, even without family history of such diseases.
authors: Department of Radiology, University of Louisville Hospital, Louisville, KY, USA.
authors: Aly
authors: A
authors: Abayazeed
authors: School of Medicine, University of Louisville Hospital, Louisville, KY, USA.
authors: Emily
authors: E
authors: Hayman
authors: Department of Pathology, University of Louisville Hospital, Louisville, KY, USA.
authors: Mana
authors: M
authors: Moghadamfalahi
authors: Department of Radiology, University of Louisville Hospital, Louisville, KY, USA.
authors: Darren
authors: D
authors: Cain
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D007083:Iliac Artery / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D021621:Imaging, Three-Dimensional; D008297:Male; D011379:Prognosis; D012008:Recurrence; D012187:Retroperitoneal Space; D012422:Rupture, Spontaneous / Q000150:complications / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed
keywords: Arterial dissection; Arterial rupture; Axial CT; Back pain; Collagen vascular disease; Common iliac artery dissection; Ectasia; Ehlers-Danlos Syndrome; Elastin; Hypovolemic shock; Iliac artery; Perforation; Retroperitoneal hematoma; Retroperitoneal hemorrhage; Vascular fragility; Vascular imaging; Vascular type Ehlers-Danlos Syndrome