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Hereditary hemorrhagic telangiectasia
1Division of Pediatric Neurology and Critical Care Medicine, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
Handbook of Clinical Neurology
|November 14, 2015
Summary
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder causing abnormal blood vessel formation. This condition leads to serious complications affecting the brain, lungs, and gastrointestinal tract.
Area of Science:
- Genetics and Vascular Biology
Background:
- Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder.
- It is characterized by the development of multiple arteriovenous malformations (AVMs) in various tissues and organs.
Purpose of the Study:
- To describe the clinical characteristics and potential complications of Hereditary hemorrhagic telangiectasia (HHT).
Main Methods:
- This abstract summarizes existing knowledge on HHT, focusing on its presentation and sequelae.
Main Results:
- HHT typically presents with recurrent nosebleeds and visible telangiectasias.
- Vascular malformations in the lungs, brain, and gastrointestinal tract are common and lead to significant morbidity.
Conclusions:
- HHT can cause severe health issues including stroke, hemorrhage, pulmonary hypertension, and heart failure.
- Early recognition and management of AVMs in HHT are crucial for patient outcomes.
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