Table 3.
Genotype-phenotype correlation in ENG and ACVRL1 patients
| 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 |
AV Arteriovenous (from hepatic artery to hepatic vein), PV Portovenous shunt (from portal vein to hepatic vein), AP Arterioportal (from hepatic artery to portal vein). NRH Nodular regenerative hyperplasia, FNH Focal nodular hyperplasia, SD Standard deviation, R-L Right-left shunt