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Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications
Jocelyn Carter1, Andrew Z Fenves1
1Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Insights
Vascular-type Ehlers-Danlos syndrome (EDS), a rare connective tissue disorder, presents diagnostic and treatment challenges. This report details two cases of this severe inherited condition.
Area of Science:
- Genetics
- Medicine
- Pathology
Background:
- Vascular-type Ehlers-Danlos syndrome (EDS) is a rare, life-threatening inherited connective tissue disorder.
- It stems from mutations in the gene encoding type III procollagen.
- This subtype of EDS has the highest mortality rate among all EDS types.
Abstract:
Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. It has the highest mortality rate among the six types of EDS. Patients with this syndrome often have typical medical histories and a characteristic physical examination. We present two patients with this rare disorder and highlight the diagnostic and treatment challenges.
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