AI Article Synopsis
- Type IV Ehlers-Danlos syndrome is a rare connective tissue disorder caused by a mutation in the COL3A1 gene, affecting type III collagen, which leads to vascular fragility and increased risk of artery ruptures.
- Diagnosis requires genetic testing, and patient care involves a multidisciplinary approach with a focus on effective blood pressure management.
- The article highlights a case of a 41-year-old woman who experienced multiple severe cardiovascular issues due to the syndrome, underscoring the importance of early diagnosis to prevent life-threatening complications.
Article Abstract
Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. Clinical presentation is related to vascular fragility and risk of rupture of the arterial wall. Definite diagnosis is given by genetic study and the approach to these patients requires a multidisciplinary team and effective blood pressure control. There is currently only one medication with potential benefit in prevention of cardiovascular events: celiprolol. This article describes the case of a 41-year-old female patient, diagnosed with vascular Ehlers-Danlos syndrome after multiple major cardiovascular events: aortic, coronary and carotid dissections and venous and arterial thrombosis. These required multiple surgical interventions and long-term admission in intensive care units leading to complete functional recovery. This case report seeks to stress the need for an early diagnosis to prevent the severe cardiovascular complications of this rare syndrome.
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| http://dx.doi.org/10.1016/j.repc.2019.05.017 | DOI Listing |
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