Table 1

General characteristics and HHT phenotype in SMAD4, along with ACVRL1 and ENG patients

PatientsSMAD4
N=33
ACVRL1
N=666
ENG
N=415
P value
General characteristics
Median age at first consultation—years (minimum−maximum)29 (9–66)47 (0–87)36 (0–87)<0.0001(·)
Sex (F–M)
 Number of females (%)14 (42)393 (59)227 (55)0.09
HHT phenotypeScreenedPresence
N (%)
Screened NPresence
N (%)
Screened NPresence
N (%)
Skin and oral telangiectases3319 (58)656560 (85)412321 (78)<0.001
 Epistaxis3327 (82)666604 (91)415368 (89)0.18
 PAVMs3217 (53)558104 (19)385248 (64)<0.001
 HAVMs187 (39)378251 (66)21147 (22)<0.001
 CAVMs17023317 (7)19048 (25)<0.001
Digestive telangiectases2213 (59)14841 (49)8341 (49)0.77
  • P values: χ² test for qualitative variables and (·) Kruskal-wallis for quantitatives variables.

  • CAVMs, cerebral arteriovenous malformations; HAVMs, hepatic arteriovenous malformations; HHT, hereditary haemorrhagic telangiectasia; PAVMs, pulmonary arteriovenous malformations.