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Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type
1Burke Rehabilitation Hospital, Weill Cornell Medical College, 785 Mamaroneck Avenue, White Plains, NY 10605, USA. cdohle@burke.org
Insights
Ehlers-Danlos Syndrome Type IV is a serious genetic disorder affecting collagen. This case highlights its potential for severe complications like artery dissection and organ rupture, even without prior connective tissue disease symptoms.
Area of Science:
- Genetics and Molecular Biology
- Vascular Medicine
- Rheumatology
Background:
- Ehlers-Danlos Syndrome (EDS) comprises inheritable connective tissue disorders caused by abnormal collagen production.
- EDS leads to symptoms including skin fragility, joint hypermobility, and easy bruising.
- Ehlers-Danlos Syndrome Type IV (EDS IV) is associated with severe neurovascular complications, organ rupture, and a poor prognosis.
Observation:
- A 50-year-old woman presented with a severe, fulminant manifestation of EDS IV.
- Her presentation included bilateral carotid and vertebral artery dissection, multiple strokes, and liver rupture.
- Notably, the patient lacked a prior history or apparent clinical signs of connective tissue disease.
Findings:
- Genetic testing confirmed the diagnosis of Ehlers-Danlos Syndrome Type IV.
- Family history revealed a pattern of aortic dissection and aneurysm rupture among relatives.
- This case underscores EDS IV as a critical differential diagnosis in adults presenting with vascular events, irrespective of connective tissue disease history.
Implications:
- Early recognition and genetic confirmation of EDS IV are crucial for guiding patient management.
- Accurate diagnosis influences treatment decisions, including the choice between antiplatelet and anticoagulant therapies.
- Identifying affected individuals allows for cascade genetic testing in families and facilitates reproductive counseling.
Abstract:
Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50 year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications.
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