Clinical and imaging advances in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary vascular disease characterized by skin and mucosal telangiectasia, leading to different degrees of bleeding syndrome and arteriovenous malformations (AVMs) in lung, liver, and nervous system. The most common clinical manifestation is recurrent nasal bleeding, while AVMs may lead to serious complications, including pulmonary hypertension, high output heart failure, liver failure, portal hypertension, brain abscess, and stroke. The clinical manifestations of HHT vary widely, with symptoms worsening with age. It is important to use the Curacao criteria and to perform genetic analysis of genes such as ENG, ACVRL1, and SMAD4. Due to the potential vascular hazards and complications of the disease, and the individual variability, effective management relies on recognizing clinical manifestations and early signs of the disease, as well as long-term clinical and imaging follow-up. Multimodal imaging, including transthoracic echocardiography, CT, and MRI, is crucial for detecting visceral involvement of the disease, which can serve as an important way to early screen HHT vascular lesions. Angiography is an important tool for both the diagnosis and interventional treatment of HHT, especially for lung and central nervous system. Recently, progresses have been made in the molecular pathway of drug action on angiogenesis, and a better understanding of the pathophysiology of angiogenesis has been achieved. Imaging also helps to understand the clinical response, hemostatic efficacy and safety of new therapies, and is expected to reduce the occurrence of serious complications. It is very important for the diagnosis and treatment of HHT visceral arteriovenous malformations. This article reviews the clinical manifestations of HHT combined with echocardiography, CT, MRI, angiography, and other imaging techniques in diagnosis and management, along with the latest research progress.