Female sex | 10 (48) |
Positive family history | 17 (81) |
Positive genetic testing | 12 (57) (5 ALK1; 6 ENG; 1 SMAD4) |
Positive family genetics# | 4 (19) (3 ALK1; 1 ENG) |
Telangiectasia | 8 (38) |
Epistaxis | 14 (67) |
AVMs | |
Pulmonary | 9 (43) |
Cerebral | 5 (24) |
Pulmonary and cerebral | 2 (10) |
Spinal | 2 (10) |
Hepatic | 3 (14) |
Diagnostic criteria | |
Four | 4 (19) |
Three | 10 (48) |
Two | 7 (33)¶ |
Data are presented as n (%). ALK1: activin receptor-like kinase1 gene; ENG: endoglin gene; SMAD4: SMAD family member 4 gene. #: children untested; ¶: six children had a positive family history of hereditary haemorrhagic telangiectasia and one child had a positive test result for a disease-causing gene mutation.