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) |