A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies.

ABSTRACT: Vascular anomalies represent a diverse group of disorders classified broadly as malformations or tumors and include the second most common hereditary bleeding disorder worldwide, hereditary hemorrhagic telangiectasia (HHT). Patients with HHT and other vascular anomalies suffer morbid consequences of these diseases, including bleeding, thrombosis, anemia, localized intravascular coagulation, tissue overgrowth, infections, and other complications. The International Society for the Study of Vascular Anomalies (ISSVA) has developed a standard classification of these disorders, creating a uniform approach to their diagnosis, and the treatments for vascular anomalies are rapidly evolving. Recent discoveries have elucidated the molecular basis of a number of common and uncommon vascular anomalies

SUBMITTER: Al-Samkari H 

PROVIDER: S-EPMC10044495 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature