Hereditary Hemorrhagic Telangiectasia: A Comprehensive Review of Genetic Features, Clinical Challenges, and Therapeutic Innovations

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder marked by abnormal blood vessel formation, resulting in telangiectasias (dilated vessels) and arteriovenous malformations (AVMs). These abnormalities affect various organs, including the skin, lungs, liver, and brain. HHT is inherited in an autosomal dominant pattern, primarily caused by mutations in the ENG and ACVRL1 genes. Clinical manifestations include recurrent nosebleeds, mucocutaneous telangiectasias, and internal AVMs, which can lead to complications like stroke, heart failure, and gastrointestinal bleeding. Diagnosis is based on the Curacao Criteria, with genetic testing confirming mutations. Treatment focuses on managing symptoms, including controlling bleeding, addressing anemia, and monitoring AVMs through imaging. Regular screening and genetic counseling are essential for early intervention and preventing severe complications.