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. 2000 Mar 9;342(10):673-80.
doi: 10.1056/NEJM200003093421001.

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

M Pepin  1 , U Schwarze, A Superti-Furga, P H Byers
Affiliations
Free article

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

M Pepin et al. N Engl J Med. .
Free article

Erratum in

  • N Engl J Med 2001 Feb 1;344(5):392

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.

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Comment in

  • Ehlers-Danlos syndrome.
    Pyeritz RE. Pyeritz RE. N Engl J Med. 2000 Mar 9;342(10):730-2. doi: 10.1056/NEJM200003093421009. N Engl J Med. 2000. PMID: 10706904 No abstract available.
  • Ehlers-Danlos syndrome type IV.
    Barabas AP. Barabas AP. N Engl J Med. 2000 Aug 3;343(5):366; author reply 368. doi: 10.1056/NEJM200008033430513. N Engl J Med. 2000. PMID: 10928897 No abstract available.
  • Ehlers-Danlos syndrome type IV.
    Pinto YM, Pals G, Zijlstra JG, Tulleken JE. Pinto YM, et al. N Engl J Med. 2000 Aug 3;343(5):366-8. N Engl J Med. 2000. PMID: 10928898 No abstract available.

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