Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

5-150 Mutation present in affected parent and absent from newborn.

Endoglin levels were measured on peripheral blood activated monocytes in patients and siblings and umbilical vein endothelial cells in neonates by metabolic labelling and immunoprecipitation. Levels are expressed relative to controls (spouses or age matched unrelated blood or umbilical cord samples) and, in the HHT family members, fell into two distinct groups as illustrated.