Table 2 Phenotype comparison of ENG versus ACVRL1 mutation carriers

From: Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia

Phenotype

ENG (HHT1)

ACVRL1 (HHT2)

OR (95% CI)

P

n

28

34

  

Epistaxis, n (%)

27 of 28 (96.4%)

31 of 34 (91.2%)

2.61 (0.26–26.62)

0.4

Telangiectasia, n (%)

17 of 20 (85.0%)

21 of 24 (84.0%)

1.08 (0.21–5.50)

0.9

pAVMs, n (%)

18 of 25 (72.0%)

6 of 33 (18.2%)

14.3 (3.98–50.98)

<0.001

cAVMs, n (%)

4 of 23 (17.4%)

4 of 33 (12.1%)

1.52 (0.34–6.85)

0.6

  1. cAVM, cerebral arteriovenous malformation; CI, confidence interval; OR, odds ratio; pAVM, pulmonary arteriovenous malformation.
  2. 72.0% of ENG mutation carriers, compared with 18.2% of ACVRL1 mutation carriers, had at least one pulmonary AVM (P < 0.001). P values were calculated using Fisher’s exact test.
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