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Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder causing abnormal blood vessel growth, leading to telangiectasias and arteriovenous malformations (AVMs).
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HHT is inherited in an autosomal dominant manner, affecting approximately 1 in 5000 people globally, with a 50% chance of transmission from an affected parent.
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Common symptoms of HHT include recurrent nosebleeds, anemia, and the presence of telangiectasias, which can lead to serious complications from AVMs.
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Diagnosis of HHT relies on clinical features known as the Curaçao criteria, requiring three specific symptoms or genetic testing for confirmation.
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Early diagnosis and screening for AVMs are crucial in managing HHT to prevent severe complications, especially in children who may be asymptomatic.
