Female sex | 30 (49) |
Positive family history | 61 (100) |
Positive genetic testing | 46 (75) (24 ALK1; 20 ENG; 2 SMAD4) |
Positive family genetics# | 1 (2) (ENG) |
Telangiectasia | 42 (69) |
Epistaxis | 46 (75) |
Diagnostic criteria | |
Three | 37 (61) |
Two | 14 (23)¶ |
One | 10 (16)¶ |
Data are presented as n (%). ALK1: activin receptor-like kinase1 gene; ENG: endoglin gene; SMAD4: SMAD family member 4 gene. #: children untested; ¶: positive family history of HHT and positive test result for the familial disease-causing mutation.