Table 1 Clinical characteristics of 66 patients with hereditary haemorrhagic telangiectasia.
From: Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia
All patients n = 66 (100) | Men n = 29 (44) | Women n = 37 (56) | |||
|---|---|---|---|---|---|
Age | Years | 52 ± 14 (min: 18, max: 82) | 56 ± 14 | 48 ± 14 | |
Missing | 0 | 0 | 0 | ||
Genetic testing | Yes | 23 (35) | 7 (24) | 16 (43) | |
No | 43 (65) | 22 (76) | 21 (57) | ||
Missing | 0 | 0 | 0 | ||
Mutated gene | HHT 1 | 7 (11) | 0 | 7 (19) | |
HHT 2 | 4 (6) | 2 (7) | 2 (5) | ||
Others | 2 (3) | 1 (3) | 1 (3) | ||
No mutation detected | 1 (2) | 0 | 1 (3) | ||
Missing | 9 (39) | 4 (57) | 5 (31) | ||
Positive FH | Yes | 60 (91) | 26 (90) | 34 (92) | |
No | 5 (8) | 3 (10) | 2 (5) | ||
Not known | 1 (2) | 0 | 1(3) | ||
Yes | 64 (97) | 29 (100) | 35 (95) | ||
TAE | No | 2 (3) | 0 | 2 (5) | |
Missing | 0 | 0 | 0 | ||
Visceral lesions | GI | Yes | 22 (33) | 12 (41) | 10 (27) |
No | 27 (41) | 11 (38) | 16 (43) | ||
Not known | 17 (26) | 6 (21) | 11 (30) | ||
PAVM | Yes | 33 (55) | 12 (41) | 21 (57) | |
No | 29 (44) | 15 (52) | 14 (38) | ||
Not known | 4 (6) | 2 (7) | 2 (5) | ||
HVM | Yes | 17 (26) | 6 (21) | 11 (30) | |
No | 34 (52) | 16 (55) | 18 (49) | ||
Not known | 15 (23) | 7 (24) | 8 (22) | ||
CVM | Yes | 8 (12) | 5 (17) | 3 (8) | |
No | 40 (61) | 16 (55) | 24 (65) | ||
Not known | 18 (27) | 8 (28) | 10 (27) | ||
Epistaxis | Yes | 64 (97) | 28 (97) | 36 (97) | |
No | 2 (3) | 1 (3) | 1 (3) | ||
Missing | 0 | 0 | 0 | ||
ESS | Score | 5.5 ± 2.3 (min: 0, max: 9.26) | 5.4 ± 2.3 | 5.5 ± 2.4 | |
Missing | 0 | 0 | 0 | ||
Haemoglobin | g/dl | 12.5 ± 2.7 | 13.4 ± 2.7 | 11.8 ± 2.5 | |
Missing | 0 | 0 | 0 | ||
