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Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

Guntram Borck1, Peter Beighton, Christian Wilhelm

  • 1Institute of Human Genetics, University of Cologne, Cologne, Germany. guntram.borck@uk-koeln.de

American Journal of Medical Genetics. Part A
|July 17, 2010
PubMed

Insights

Ruptures of large arteries are typically linked to vascular Ehlers-Danlos syndrome (EDS IV). However, a patient with classic EDS (EDS I) due to a COL5A1 mutation experienced arterial rupture, suggesting this complication may occur in classic EDS.

Area of Science:

  • Genetics
  • Vascular Biology
  • Connective Tissue Disorders

Background:

  • Vascular Ehlers-Danlos syndrome (EDS IV) is characterized by a high risk of arterial rupture, primarily associated with COL3A1 mutations.
  • Classic Ehlers-Danlos syndrome (EDS I) typically presents with skin hyperextensibility and joint hypermobility, with arterial complications considered rare.

Observation:

  • A 42-year-old male with EDS-typical skin lesions, easy bruising, and recurrent inguinal hernias experienced a spontaneous rupture of the left common iliac artery.
  • Genetic analysis revealed no COL3A1 mutation, but identified a de novo heterozygous nonsense mutation (c.3184C>T; p.R1062X) in COL5A1, consistent with classic EDS (EDS I).

Findings:

  • This case represents the first reported instance of a COL5A1 mutation-positive classic EDS patient experiencing a large artery rupture.
  • The findings challenge the established understanding of arterial rupture as exclusive to vascular EDS.

Implications:

  • Arterial rupture may be an underrecognized complication of classic Ehlers-Danlos syndrome.
  • This discovery necessitates a reevaluation of diagnostic criteria and genetic testing strategies for EDS patients presenting with arterial events.
  • Enhanced genetic counseling and risk assessment are crucial for individuals with classic EDS.

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