Knowra Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia is an inherited vascular disorder in which fragile, abnormal blood vessels cause recurrent bleeding, especially nosebleeds and bleeding from internal organs.
Arteriovenous malformation : An abnormal direct connection between an artery and a vein that bypasses the capillary network. These vascular malformations can form in the lungs, brain, liver, and other organs.
Pulmonary arteriovenous malformation : An abnormal artery-to-vein connection in the lungs that permits blood to bypass pulmonary capillaries. It can allow clots or bacteria to reach the brain and can cause low blood oxygen.
Autosomal dominant inheritance : A pattern of inheritance in which one altered copy of a gene can cause a trait or disorder. Most cases follow this pattern, giving each child of an affected parent a 50% chance of inheriting the variant.
Von Willebrand disease : An inherited bleeding disorder caused by deficient or dysfunctional von Willebrand factor. Both can cause recurrent mucosal bleeding, but HHT stems from abnormal vessels rather than a clotting-protein defect.
Telangiectasia : A small, visibly dilated blood vessel near the skin or mucosal surface. These fragile vessels commonly appear on the lips, tongue, face, and hands.
Cerebral arteriovenous malformation : An abnormal direct connection between arteries and veins in the brain. Screening can identify lesions that may bleed or cause neurological symptoms.
Vascular endothelium : The layer of cells lining blood vessels and regulating exchange, clotting, and vascular tone. The disorder arises from defects in signaling that guides endothelial cells and vessel formation.
Cavernous hemangioma : A benign vascular lesion composed of enlarged, blood-filled spaces. It is a localized vascular lesion, unlike HHT’s inherited tendency to form multiple vascular abnormalities.
Endoglin : A cell-surface protein that helps regulate transforming growth factor beta signaling in vascular endothelial cells. Changes in its gene are a common cause of the disorder and impair vascular signaling.
Hepatic arteriovenous malformation : An abnormal artery-to-vein connection within the liver. Extensive liver involvement can contribute to heart failure or portal hypertension.
Show all 22