Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

The clinical diagnosis of Ehlers–Danlos syndrome type IV, the vascular type, is made on the basis of four clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines. 1 The diagnosis is confirmed by the demonstration...

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Bibliographic Details
Published in:	The New England journal of medicine Vol. 342; no. 10; pp. 673 - 680
Main Authors:	Pepin, Melanie, Schwarze, Ulrike, Superti-Furga, Andrea, Byers, Peter H
Format:	Journal Article
Language:	English
Published:	Boston, MA Massachusetts Medical Society 09-03-2000
Subjects:	Adolescent Adult Age Aged Biological and medical sciences Cause of Death Child Child, Preschool Ehlers-Danlos Syndrome - complications Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - mortality Family medical history Female Genotype Humans Infant Intestinal Perforation - etiology Male Medical research Medical sciences Middle Aged Mutation Patients Phenotype Pregnancy Pregnancy Complications - etiology Pregnancy Complications - mortality Pregnancy Outcome Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Survival Analysis Vascular Diseases - etiology Human Skin disease Procollagen Elastic tissue disease Diseases of the osteoarticular system Cardiovascular disease Genetic disease Vascular disease Gene Ehlers Danlos syndrome Systemic disease Family environment Genetics Mutation Bibliographic review
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Summary:	The clinical diagnosis of Ehlers–Danlos syndrome type IV, the vascular type, is made on the basis of four clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines. 1 The diagnosis is confirmed by the demonstration that cultured fibroblasts synthesize abnormal type III procollagen molecules or by the identification of a mutation in the gene for type III procollagen ( COL3A1 ). Hypermobility of large joints and hyperextensibility of the skin, characteristic of the more common forms of Ehlers–Danlos syndrome, are unusual in the vascular type. 2 , 3 Ehlers–Danlos syndrome type IV, an . . .
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJM200003093421001