Article
Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions.
Genes - 27 Jan 2021
Snodgrass Ryan O, Chico Timothy J A, Arthur Helen M
Abstract excerpt
Hereditary haemorrhagic telangiectasia (HHT) is characterised by arteriovenous malformations (AVMs). These vascular abnormalities form when arteries and veins directly connect, bypassing the local capillary system. Large AVMs may occur in the lungs, liver and brain, increasing the risk of morbidity and mortality. Smaller AVMs, known as telangiectases, are prevalent on the skin and mucosal lining of the nose,...
Topics
- Alleles
- Animals
- Bone Morphogenetic Proteins
- Disease Management
- Endothelial Cells
- Evidence-Based Medicine
- Genetic Predisposition to Disease
- Growth Differentiation Factor 2
- Humans
- Mutation
- Phenotype
