Relationship Between Mutations in ENG and ALK1 Genes and the Affected Organs in Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder that causes refractory nasal bleeding, arteriovenous malformations in the lung (pulmonary arteriovenous fistula: PAVF), central nervous system (CNS-AVF), and liver (hepatic AVF). HHT is caused by genetic abnormalities in endoglin (ENG), ACVRL1 (ALK1), and other rare genes (e.g., SMAD4). The relationship between these gene mutations and the affected organs remains unclear.