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Volume 342:673-680 March 9, 2000 Number 10 Next

	Full Text PDF Editorial by Pyeritz, R. E. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited Related Article PubMed Citation

ABSTRACT

Background Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented.

Methods We reviewed the clinical and family histories of and medical and surgical complications in 220 index patients with biochemically confirmed Ehlers–Danlos syndrome type IV and 199 of their affected relatives. We identified the underlying COL3A1 mutation in 135 index patients.

Results Complications were rare in childhood; 25 percent of the index patients had a first complication by the age of 20 years, and more than 80 percent had had at least one complication by the age of 40. The calculated median survival of the entire cohort was 48 years. Most deaths resulted from arterial rupture. Bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely led to death. Complications of pregnancy led to death in 12 of the 81 women who became pregnant. The types of complications were not associated with specific mutations in COL3A1.

Conclusions Although most affected patients survive the first and second major complications, Ehlers–Danlos syndrome type IV results in premature death. The diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture.

Source Information

From the Departments of Pathology (M.P., U.S., P.H.B.) and Medicine (P.H.B.), University of Washington, Seattle; and the Division of Metabolic and Molecular Diseases, Department of Pediatrics, University of Zurich, Zurich, Switzerland (A.S.-F.).

Address reprint requests to Dr. Byers at the Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195-7470, or at pbyers{at}u.washington.edu.

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Ehlers–Danlos Syndrome Type IV
Barabas A. P., Pinto Y. M., Pals G., Zijlstra J. G., Tulleken J. E., Byers P. H., Schwarze U., Pepin M., Pyeritz R. E.
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N Engl J Med 2000; 343:366-368, Aug 3, 2000. Correspondence

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