Table 6.
Characteristics | HHT (n=56) |
---|---|
Family history of HHT | |
No | 6 (12) |
Yes | 45 (88) |
Epistaxis | |
No | 8 (19) |
Yes | 34 (81) |
Telangiectasia | |
No | 6 (14) |
Yes | 36 (85) |
Pulmonary AVM | |
No | 24 (57) |
Yes | 18 (43) |
GI Bleed | |
No | 35 (83) |
Yes | 7 (17) |
Clinical Criteria for Diagnosis of HHT | |
At least 3 | 36 (82) |
Two | 7 (16) |
One | 1 (2) |
HHT genetic testing results | |
ACVRL1 mutation | 5 (9) |
ACVRL1 VUS | 0 (0) |
Endoglin mutation | 25 (44) |
Ebdoglin VUS | 1 (2) |
SMAD4 mutation | 0 (0) |
SMAD4 VUS | 0 (0) |
No mutation detected | 4 (7) |
Not done or not available | 21 (38) |