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Table 3 Age-related phenotypes of ENG and ACVRL1-HHT patients

From: Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

  ENG        ACVRL1       
Age (years) 0–5 6–11 12–19 20–39 40–59 60- Total (%) 0–5 6–11 12–19 20–39 40–59 60- Total (%)
No of patients 14 16 10 43 52 27 162 3 3 6 21 39 25 97
Curaçao criteria (N = 259)
 Definite 6 11 8 38 51 27 141 (87.0) 1 1 4 15 39 25 85 (87.6)
 Probable 3 4 2 5 1 0 15 (9.3) 1 1 2 4 0 0 8 (8.2)
 Unlikely 5 1 0 0 0 0 6 (3.7) 1 1 0 2 0 0 4 (4.1)
Clinical presentation
 Epistaxis (N = 259) 9 14 10 43 52 28 156 (96.3) 1 2 6 19 39 25 92 (94.8)
 Telangiectasia (N = 259) 1 5 8 30 45 27 116 (71.6) 0 0 3 11 39 25 78 (80.4)
 AVMs of organs (N = 252) 7 13 10 35 47 25 137(84.6) 0 1 2 14 36 24 77 (79.3)
  Pulmonary (N = 251) 4 11 10 32 37 18 112 (69.1) 0 1 0 5 6 2 14 (14.4)
  Brain (N = 245) 5 9 5 14 12 10 55 (34.0) 0 0 1 1 3 0 5 (5.2)
  Hepatic (N = 199) 0 1 2 9 20 19 51 (31.5) 0 1 2 12 34 22 71 (73.2)
  Spinal (N = 102) 0 2 0 0 1 1 4 (2.5) 0 0 0 0 1 0 1 (1.0)
 GI tract (N = 97) 0 0 0 1 11 12 24 (14.8) 0 0 0 0 14 12 26 (26.8)
  Esophageal 0 0 0 0 0 1 1 (0.6) 0 0 0 0 1 0 1 (1.0)
  Gastric 0 0 0 0 10 11 21 (13.0) 0 0 0 0 14 12 26 (26.8)
  Duodenal 0 0 0 1 2 2 5 (3.1) 0 0 0 0 3 2 5 (5.2)
  Colonic 0 0 0 0 2 5 7 (4.3) 0 0 0 0 3 1 4 (4.1)