Hereditary haemorrhagic telangiectasia
Extensions
- Look into mouth with pen torch inspecting tongue and palate
- Examine chest for bruits
- Cardiovascular examination for high output cardiac failure
Questions
- Anybody else in the family had similar problem?
- GI bleeding
- Epistaxis
- Headaches, stroke (cerebral AV malformation)
Notes
- Complications: Epistaxis, GI haemorrhage, iron deficiency anaemia, haempoptysis, subarachnoid, high output cardiac failure (due to hepatic artery-vein shunt)
- Genes: endoglin-β, activin receptor-like kinaes 1 (ALK-1). Both expressed on vascular endothelial cells and implicated in signalling to members of TGF-beta family.