Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections

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Richard James Booth Ellis1, Maqsud Salehin, Rui Zhou

  • 1Department of Care of the Elderly and Stroke Medicine, Leighton Hospital, Crewe, Cheshire, UK. rjbellis@doctors.net.uk

BMJ Case Reports
|December 14, 2012
PubMed

Insights

Vascular Ehlers-Danlos syndrome, a collagen disorder, can cause arterial dissections. A genetic mutation in COL3A1 was identified in a patient with recurrent carotid dissections and transient neurological symptoms.

Area of Science:

  • Genetics
  • Vascular Medicine
  • Connective Tissue Diseases

Background:

  • Vascular Ehlers-Danlos syndrome (vEDS) is an inherited connective tissue disorder caused by defects in type III collagen.
  • It predisposes individuals to arterial and organ rupture, including carotid artery dissection.
  • Recurrent dissections pose significant management challenges.

Observation:

  • A 17-year-old female presented with transient neurological signs and pulsatile tinnitus.
  • These symptoms were attributed to carotid artery dissection on one side.
  • This occurred one year after a stroke caused by dissection on the contralateral side.

Findings:

  • Genetic analysis revealed a heterozygous missense mutation (c.970G>A) in the COL3A1 gene.
  • This specific mutation has been previously linked to vascular Ehlers-Danlos syndrome.
  • The findings confirm a genetic basis for the patient's recurrent vascular events.

Implications:

  • This case highlights the importance of genetic testing for COL3A1 in young patients with unexplained arterial dissections.
  • Early diagnosis of vascular Ehlers-Danlos syndrome allows for proactive management and genetic counseling.
  • Understanding genotype-phenotype correlations aids in predicting disease severity and guiding treatment strategies.

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