The Ehlers-Danlos specter revisited

Dolores F. Cikrit, Jennifer R. Glover, Michael Dalsing, Donald Silver

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Ehlers-Danlos type IV is a major concern to vascular surgeons because it is often associated with spontaneous hemorrhage from arteries containing decreased type 111 collagen. Five members of a family with Ehlers-Danlos type IV and a review of another family of five with Ehlers-Danlos type IV are reported. Evaluation of the recent family included clinical evaluation as well as assay of collagen production. The age range of the three involved females and two males was 7 to 52 years. The father of the affected family had a spontaneous colon perforation at age 39. His son, at age 27, had a spontaneous rupture of the iliac artery. Revascularization was accomplished with difficulty. His daughter had a large cerebral bleed. Two granddaughters, ages 7, have not had any bleeding or aneurysmal events. The amount of type III collagen was only 10% of normal in the patient with the iliac artery rupture. The three females all exhibited similarly low levels of type 111 collagen. The father's type 111 collagen level was not sufficiently low to confirm Ehlers-Danlos type IV, although he had a spontaneous colon perforation. In the other Ehlers-Danlos type IV family of five, the three surviving members had type III collagen levels as low as 5% of normal. Two family members died after spontaneous iliac rupture at ages 24 and 33. Both families exhibited an autosomal dominant inheritance pattern. Ehlers-Danlos type IV remains a challenging problem for vascular surgeons. It is transmitted as an autosomal dominant inheritance with a high degree of penetrance. Spontaneous arterial and intestinal perforations should alert the clinician to the possibility of Ehlers-Danlos type IV. Patients should be evaluated noninvasively. Arterial repairs may not be successful in these patients because the vessels are extremely friable. Assays of collagen production are advisable in establishing the diagnosis.

Original languageEnglish
Pages (from-to)213-217
Number of pages5
JournalVascular and Endovascular Surgery
Volume36
Issue number3
StatePublished - May 2002

Fingerprint

Collagen
Spontaneous Rupture
Collagen Type III
Iliac Artery
Nuclear Family
Fathers
Blood Vessels
Colon
Hemorrhage
Intestinal Perforation
Inheritance Patterns
Penetrance
Rupture
Arteries
Spontaneous Perforation
Surgeons

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Cikrit, D. F., Glover, J. R., Dalsing, M., & Silver, D. (2002). The Ehlers-Danlos specter revisited. Vascular and Endovascular Surgery, 36(3), 213-217.

The Ehlers-Danlos specter revisited. / Cikrit, Dolores F.; Glover, Jennifer R.; Dalsing, Michael; Silver, Donald.

In: Vascular and Endovascular Surgery, Vol. 36, No. 3, 05.2002, p. 213-217.

Research output: Contribution to journalArticle

Cikrit, DF, Glover, JR, Dalsing, M & Silver, D 2002, 'The Ehlers-Danlos specter revisited', Vascular and Endovascular Surgery, vol. 36, no. 3, pp. 213-217.
Cikrit DF, Glover JR, Dalsing M, Silver D. The Ehlers-Danlos specter revisited. Vascular and Endovascular Surgery. 2002 May;36(3):213-217.
Cikrit, Dolores F. ; Glover, Jennifer R. ; Dalsing, Michael ; Silver, Donald. / The Ehlers-Danlos specter revisited. In: Vascular and Endovascular Surgery. 2002 ; Vol. 36, No. 3. pp. 213-217.
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