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Cerebrovascular disease in Ehlers-Danlos syndrome type IV
W I Schievink1, M Limburg, J W Oorthuys
1Department of Neurology, University of Amsterdam, The Netherlands.
Insights
Ehlers-Danlos syndrome type IV patients with collagen type III deficiency experienced cerebrovascular events like carotid artery dissection and aneurysms. Early recognition is crucial due to procedural risks.
Area of Science:
- Vascular Medicine
- Genetics
- Connective Tissue Diseases
Background:
- Ehlers-Danlos syndrome type IV (EDS IV) is a rare genetic disorder characterized by a deficiency in collagen type III.
- Vascular complications are a major cause of morbidity and mortality in EDS IV patients.
Observation:
- Two patients with EDS IV presented with severe cerebrovascular complications: a 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage and aortic dissections.
- Both patients were confirmed to have collagen type III deficiency through fibroblast analysis.
Findings:
- This report details the first known case of spontaneous carotid artery dissection associated with collagen type III deficiency.
- The findings suggest a significant role for collagen type III deficiency in the pathogenesis of intracranial saccular aneurysms.
- Collagen type III deficiency may also contribute to the development of carotid cavernous fistulas and cervical artery dissections.
Implications:
- Early clinical recognition of EDS IV is critical for managing patients and mitigating risks associated with diagnostic and surgical procedures.
- Understanding the link between collagen type III deficiency and vascular abnormalities can improve diagnostic strategies and patient care.
- This research highlights the importance of genetic testing and collagen analysis in patients presenting with unexplained vascular dissections or aneurysms.
Abstract:
We describe two patients with cerebrovascular complications of Ehlers-Danlos syndrome type IV. A 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage and multiple aortic dissections were both deficient in collagen type III, analyzed in cultured skin fibroblasts. To our knowledge, spontaneous carotid artery dissection associated with collagen type III deficiency has not been reported previously. Early clinical recognition of this syndrome is of great importance in view of the hazards of angiography and surgery. Collagen type III deficiency plays a role in the pathogenesis of intracranial saccular aneurysms and may also be involved in the pathogenesis of carotid cavernous fistulas and dissections of the cervical arteries.