Endoglin level | Cases tested | Predicted outcome | Mutations detected | ||||||
---|---|---|---|---|---|---|---|---|---|
Mean | Range | ||||||||
Endoglin | ALK-1 | ||||||||
Non-affected siblings | 105% | 73–140% | 36 | Normal | 0 | 0 | |||
Clinically diagnosed HHT patients | |||||||||
Group A | 48% | 8–72% | 92 | HHT1 | 19 | 0 | |||
Group B | 101% | 72–137% | 38 | Non-HHT1 | 0 | 3 | |||
Newborns from HHT families | |||||||||
Group A | 47% | 26–61% | 15 | HHT1 | 9 | 0 | |||
Group B | 99% | 83–128% | 38 | Normal (if HHT1 family, n = 19) | 55-150 | 0 | |||
Normal or HHT2 (if non-HHT1 family, n = 19) | 0 | 2 |
↵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.