Table 5

Analysis of endoglin levels in HHT families in relation to mutations detected

Endoglin levelCases testedPredicted outcomeMutations detected
Endoglin ALK-1
Non-affected siblings105%73–140%36Normal00
Clinically diagnosed HHT patients
Group A48%8–72%92HHT1190
 Group B101%72–137%38Non-HHT103
Newborns from HHT families
Group A47%26–61%15HHT190
 Group B99%83–128%38Normal (if HHT1 family, n = 19)55-150 0
Normal or HHT2 (if non-HHT1 family, n = 19)02
  • 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.