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Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature

Free full text article: 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.






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Keyword search:

1. Vascular type Ehlers-Danlos Syndrome

2. Ehlers-Danlos Syndrome

3. Arterial dissection

4. Common iliac artery dissection

5. Arterial rupture

6. Collagen vascular disease

7. Ectasia

8. Retroperitoneal hemorrhage

9. Axial CT

10. Retroperitoneal hematoma

11. Vascular imaging

12. Elastin

13. Iliac artery

14. Vascular fragility

15. Hypovolemic shock

16. Back pain

17. Perforation


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