Table 1

Clinical features of family members

IndividualAge1-150(years)EpistaxisTelangiectasiaPAVM screenHHT status
OnsetCurrent severitySao2supineSao2 erect
II.269ChildhoodOccasionalBuccal9897Affected
II.3769797Unaffected
III.149ChildhoodNil since childhoodLips, facial9696Affected
III.248ChildhoodNil since cauterisation9897Obligate affected
III.448Childhood2 monthlyFacial100100Affected
III.642ChildhoodFrequent, several cauterisationsLips, buccal9898Affected
IV.228PreschoolAlmost dailyBuccal, tongue, fingers9695Affected
IV.32726 yearsMonthlyLips, hands9894Affected
IV.419ChildhoodOccasionalLips, facial9998Affected
IV.517ChildhoodWeeklyBuccal9998Affected
IV.69Aged fourSeveral per yearTongue9898Affected
IV.718ChildhoodOccasionalBuccal9898Affected
IV.8169898Unaffected
V.19PreschoolSeveral each yearFacial, fingers9897Affected
  • Sao 2 = oxygen saturation on air after 10 minutes in posture indicated.

  • 1-150 Age (years) at time of review.

  • Pedigree numbers correspond to fig 1. See text for additional clinical information on IV.2 and IV.3.