Hereditary Haemogenous Telangiectasia

-autosomal dominant -3 features from the ff needed for definitive clinical diagnosis: 1.    Nosebleeds 2.    Cutaneous telangiectasia- especially perioral 3.    Internal lesions- arteriovenous malformations: o   Pulmonary- most common o   Hepatic o   Cerebral o   Spinal 4.    Family history -screening test: o   bubble contrast echocardiograms (usually done in teens- inject shaken syringe of saline in venous system; bubbles present on left side of heart on echocardiography). +ve test means pulmonary AVM present, but doesn’t give idea of severity (i.e. how big AVM is) o   lying and standing O2 sats- poor test. Done in children before teen age. -CT angiogram is confirmatory test. Done if bubble contrast echo +ve -Rx: embolization: done by interventional radiologist. Catheter with a balloon is passed through femoral venous? circulation to access AVM. Balloon is blown into AVM to block it off.

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