Table 3 Genotype-phenotype correlation in ENG and ACVRL1 patients
From: Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
GENE Mutation | ENG | ACVRL1 | p-value |
|---|---|---|---|
Patients, n | 36 | 77 | |
Sex, n (%) | |||
Male | 13 (36) | 23 (29.9) | 0.507 |
Female | 23 (64) | 54 (70.1) | |
Age at diagnosis (years), mean ± SD | 36.9 ± 17.9 | 45.7 ± 16.8 | 0.036 |
Ethnicity, n (%) | |||
Caucasian | 36 (100) | 67 (87) | 0.218 |
Hispanic | 0 (0) | 5 (6.5) | |
Others/unknown | 0 (0) | 5 (6.5) | |
Hypertension, n (%) | 8 (22.2) | 23 (29.9) | 0.133 |
Diabetes Mellitus, n (%) | 1 (2.7) | 9 (11.7) | 0.146 |
Dyslipidaemia, n (%) | 7 (19.4) | 22 (28.5) | 0.561 |
Venous Thromboembolism, n(%) | 4 (11.1) | 4 (5.2) | 0.269 |
Atrial fibrillation, n (%) | 2 (5.5) | 6 (7.8) | 0.588 |
HHT criteria, n (%) | 0.130 | ||
4 HHT criteria | 23 (63.8) | 38 (49.3) | |
3 HHT criteria | 9 (25) | 27 (35.1) | |
2 or less HHT criteria | 4 (11.1) | 12 (15.6) | |
Family history, n (%) | |||
Positive | 34 (94.4) | 73 (94.8) | 0.626 |
Negative | 1 (2.7) | 2 (2.6) | |
Unknown | 1 (2.7) | 2 (2.6) | |
Symptoms at onset, n (%) | 0.461 | ||
Nosebleeds | 32 (88.9) | 65 (84.4) | |
Cerebral abscess | 1(2.7) | 0 (0) | |
Others | 2 (5.5) | 5 (6.5) | |
No clinical data | 1 (2.7) | 9 (11.7) | |
Muco-cutaneous telangiectasia, n (%) | 29 (80.5) | 62 (80.5) | 0.645 |
Cerebral abscess, n (%) | 2 (5.5) | 0 (0) | 0.132 |
ESS basal, mean ± SD | 3.45 ± 2.5 | 3.51 ± 2.3 | 0.94 |
Anemia, n (%) | 10 (27.7) | 38 (49.3) | 0.026 |
Cardiac index (L/min/m2), mean ± SD | 2.62 ± 0.7 | 3.46 ± 0.79 | 0.021 |
Contrast TTE (R-L shunt grade), n (%) | < 0.005 | ||
0 | 2 (5.5) | 28 (36.4) | |
1 | 12 (33.3) | 17 (22.1) | |
2 | 10 (27.7) | 4 (5.2) | |
3 | 4 (11.1) | 3 (3.9) | |
4 | 1 (2.7) | 0 (0) | |
Unknown | 1 (2.7) | 1 (1.3) | |
Pulmonary AVM, n (%) | 20 (55.5) | 11 (14.3) | < 0.005 |
Cerebral AVM, n (%) | 3 (8.3) | 1 (1.3) | < 0.005 |
Hepatic involvement, n (%) | 9 (25) | 33 (42.8) | 0.075 |
AV shunt | 2 (5.5) | 15 (19.4) | 0.128 |
PV shunt | 3 (8.3) | 2 (2.6) | 0.078 |
AP shunt | 1 (2.7) | 9 (11.7) | 0.385 |
FNH | 0 (0) | 2 (2.6) | 1 |
NRH | 0 (0) | 1 (1.3) | 1 |
Telangiectasia | 4 (11.1) | 20 (25.9) | 0.413 |
Liver function test (IU/L), mean ± SD | |||
Aspartate aminotransferase | 11.2 ± 10.4 | 19.7 ± 11.6 | 0.004 |
Alanine transaminase | 11.5 ± 11.3 | 19.4 ± 12.5 | 0.010 |
Gamma-glutamyl transferase | 11.2 ± 12.8 | 43.4 ± 71.3 | 0.004 |
Alkaline phosphatase | 35.4 ± 37.1 | 68.5 ± 69 | 0.026 |
Bilirubin | 5.61 ± 8.7 | 5.19 ± 19.7 | 0.92 |
Pancreatic involvement, n (%) | 0 (0) | 6 (7.8) | 0.302 |
Gastrointestinal involvement, n (%) | |||
Gastroscopy | 8 (22.2) | 9 (11.7) | 0.603 |
Colonoscopy | 3 (8.3) | 3 (3.9) | 0.622 |