Table 1—

Summary of 61 children with genetically or clinically confirmed hereditary haemorrhagic telangiectasia(HHT) who were asymptomatic for visceral arteriovenous malformations at their first assessment

Female sex30 (49)
Positive family history61 (100)
Positive genetic testing46 (75) (24 ALK1; 20 ENG; 2 SMAD4)
Positive family genetics#1 (2) (ENG)
Telangiectasia42 (69)
Epistaxis46 (75)
Diagnostic criteria
 Three37 (61)
 Two14 (23)
 One10 (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.