• Vascular Type EDS Description

• Vascular Type EDS Links

• Medical Journal Abstracts on Vascular Type EDS

Vascular Type EDS Description

Thin translucent skin reveals the subcutaneous venous pattern, and is particularly apparent over the chest and abdomen. Facial appearance is characteristic in some affected individuals. A decrease in subcutaneous tissue, particularly in the face and extremities is evident. Minor trauma can lead to extensive bruising. Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Life expectancy is shortened with a majority of individuals.

Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus is frequently seen at birth. Other manifestations that may be found include: acrogeria; early onset varicose veins; arteriovenous, carotid-cavernous fistula; pneumothorax/pneumohemothorax; gingival recession; complications during and after surgery.

Vascular Type EDS is caused by structural defects in the proa` 1 (III) chain of collagen type III encodes by COL3A1. Inheritance: Autosomal dominant.

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Vascular Type EDS Links

• Ehlers-Danlos Syndrome, Vascular Type (Genetics Home Reference)

• Ehlers-Danlos Syndrome Type IV. (OMIM)

• University of Washington Connective Tissue Biopsy Program. (University of Washington Department of Pathology, Seattle, WA.)

• Vascular EDS.  (Pepin, Byers, GeneReviews)

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Medical Journal Abstracts on Vascular Type EDS

• A brachial aneurysm in childhood caused by Ehlers-Danlos syndrome.

• Spontaneous retrobulbar hemorrhage in type IV Ehlers-Danlos syndrome. 

• Ehlers-danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.

• Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood.

• Spontaneous common iliac arteries rupture in Ehlers-Danlos syndrome type IV: report of two cases and review of the literature.

• Ehlers-Danlos syndrome type IV and multiple aortic aneurysms--a case report.

• Survival of an aortic trauma patient with Ehlers-Danlos syndrome type IV: a case report.  This article was published in the Fall-Winter 2003 issue of EDS Today.

• Anesthetic management of a parturient with Ehlers-Danlos type IV.

• Managing Carotid-Cavernous Fistulas in Ehlers-Danlos Syndrome Type IV.

• Increased Carotid Wall Stress in Vascular Ehlers-Danlos Syndrome.

• Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha 2beta 1 integrin and recruit alpha vbeta 3 instead of alpha 5beta 1 integrin.

• Management of spontaneous colonic perforation in ehlers-danlos syndrome type IV.

• Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl.

• Successful coil embolization for spontaneous arterial rupture in association with Ehlers-Danlos syndrome type IV: report of a case.

• Successful stent placement for cervical artery dissection associated with the Ehlers-Danlos syndrome. Case report and review of the literature.

• Dermatological diseases influenced by pregnancy.

• Uncommon arteriopathies: what the vascular surgeon needs to know.

• Surgical management of Ehlers-Danlos syndrome: first report of a pedigree in China.

• Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.

• Use of porcine small intestinal submucosa in Ehlers-Danlos syndrome Type IV. This article was published in the Spring-Summer 2004 issue of EDS Today.

• Radiology quiz case 2: Ehlers-Danlos syndrome (EDS) type IV, vascular form.

• New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

• Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

• Polycystic kidney disease associated with cervical arteriovenous shunt and bilateral jugular vein occlusion.

• Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia.

• Ehlers-Danlos syndrome: case and pedigree report and review.

• Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings.

• Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.

• Pulmonary valvuloplasty in a case of vascular Ehlers-Danlos syndrome.

• Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV.

• Type IV Ehlers-Danlos syndrome: a surgical emergency.

• Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.

• Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature.

• Managing carotid-cavernous fistulas in Ehlers-Danlos syndrome type IV.

• The Ehlers-Danlos specter revisited.

• Anesthetic management of a parturient with Ehlers Danlos syndrome type IV.

• Spontaneous retrobulbar hemorrhage in type IV Ehlers-Danlos syndrome.

• Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.

• Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood.

• Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

• A brachial aneurysm in childhood caused by Ehlers-Danlos syndrome.

• Surgical complications of Ehlers-Danlos syndrome type IV: case report and review of the literature.

• Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.

• Spontaneous common iliac arteries rupture in Ehlers-Danlos syndrome type IV: report of two cases and review of the literature.

• Ehlers-Danlos syndrome type IV and multiple aortic aneurysms--a case report.

• Epidemiology of intracranial aneurysm and subarachnoid hemorrhage.

• Vascular Ehlers-Danlos syndrome undiagnosed during life.

• Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case.

• Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

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