Table 1.
Clinical characteristics and screening tests according to gastrointestinal involvement in 240 patients with hereditary hemorrhagic telangiectasia (HHT).
| GI Involvement (n = 67) |
No GI Involvement (n = 28) |
p Value | Unsuspected GI Involvement (n = 145) |
p Value * | |
|---|---|---|---|---|---|
| Clinical characteristics | |||||
| Gender (female), n (%) | 35 (52.2) | 18 (64.3) | 0.380 | 84 (57.9) | 0.437 |
| Age years-old, mean (SD) | 59.5 (11.1) | 56.9 (13.3) | 0.332 | 44.3 (16.3) | <0.001 |
| Epistaxis age of presentation, mean (SD) | 16.6 (13.1) | 13.8 (7.4) | 0.207 | 16.1 (11.9) | 0.813 |
| Underlying conditions, n (%) | |||||
| Smoking history | 38 (56.7) | 8 (28.6) | 0.012 | 59 (40.7) | 0.029 |
| Alcoholism | 15 (22.4) | 4 (14.3) | 0.368 | 13 (9) | 0.007 |
| Hypertension | 25 (37.3) | 11 (39.3) | 0.857 | 27 (18.6) | 0.003 |
| Diabetes mellitus | 14 (20.9) | 3 (10.7) | 0.238 | 9 (6.2) | 0.001 |
| Dislipemia | 24 (35.8) | 11 (39.3) | 0.750 | 31 (21.4) | 0.026 |
| Ischemic heart disease | 15 (22.4) | 3 (10.7) | 0.186 | 12 (8.3) | 0.004 |
| Lung disease | 19 (28.4) | 6 (21.4) | 0.484 | 12 (8.3) | <0.001 |
| CNS ischemic disease | 13 (19.4) | 1 (3.6) | 0.059 | 11 (7.6) | 0.012 |
| Heart failure | 7 (10.4) | 0 | 0.101 | 2 (1.4) | 0.005 |
| Cancer | 9 (13.4) | 0 | 0.054 | 8 (5.5) | 0.048 |
| Atrial fibrillation | 9 (13.4) | 2 (7.1) | 0.498 | 4 (2.8) | 0.005 |
| HHT screening, | |||||
| Curaçao criteria ≥ 3, n (%) | 67 (100) | 27 (96.4) | 0.295 | 136 (93.8) | 0.060 |
| Epistaxis, n (%) ESS, mean (SD) ESS ≥ 4, n (%) |
67 (100) 4.2 (2.2) 35 (56.5) |
27 (96.4) 3.5 (1.9) 10 (37) |
0.295 0.137 0.092 |
137 (94.5) 3.4 (2.2) 52 (36.4) |
0.058 0.019 0.009 |
| Family history, n (%) | 61 (91) | 26 (92.9) | 1.000 | 141 (97.2) | 0.076 |
| Muco-cutaneous telangiectasia, n (%) | 67 (100) | 27 (96.4) | 0.295 | 139 (95.9) | 0.180 |
| Visceral involvement (excluding GI involvement), n (%) | 53 (79.1) | 19 (67.9) | 0.318 | 89 (61.3) | 0.012 |
| Genetic test, n (%) | |||||
| Undergone | 40 (59.7) | 20 (71.4) | 0.280 | 106 (73.1) | 0.050 |
| ENG | 21 (52.5) | 4 (20) | 0.001 | 50 (49) | 0.709 |
| ACVRL1 | 17 (42.5) | 14 (70) | 0.044 | 42 (41.2) | 0.886 |
| Negative | 2 (5) | 2 (10) | 0.595 | 9 (8.8) | 0.728 |
| Blood test, | |||||
| Hemoglobin levels (g/dL), mean (SD) | 113.1 (24.7) | 131.4 (22.6) | 0.007 | 133.9 (22.9) | <0.001 |
| Minimal hemoglobin levels (g/dL), mean (SD) | 84.3 (30.8) | 108.3 (32.7) | 0.002 | 118.2 (30.5) | <0.001 |
| Ferritin level < 15 ug/L, n (%) | 56 (83.6) | 15 (55.6) | 0.004 | 76 (55.1) | <0.001 |
| Other tests, | |||||
| Positive contrast TTE, n (%) | 45 (67.1) | 13 (46.4) | 0.252 | 94 (64.8) | 0.640 |
| CI at TTE (l/min/m²), mean (SD) | 3.4 (0.9) | 3.4 (1.2) | 0.988 | 2.9 (0.6) | <0.001 |
| sPAP at TTE (mm Hg), mean (SD) | 37.9 (12.3) | 31.3 (7.1) | 0.024 | 29.8 (6.9) | <0.001 |
| sPAP > 40mmHg, n (%) | 12 (32.4) | 2 (15.4) | 0.303 | 6 (9.5) | 0.004 |
| Pulmonary AVM at CT, n (%) | 25 (37.3) | 3 (10.7) | 0.256 | 39 (26.8) | 0.077 |
| Abdominal CT, n (%) | 62 (92.5) | 22 (78.6) | 0.077 | 103 (71) | <0.001 |
| Hepatic involvement | 40 (59.7) | 17 (60.7) | 0.271 | 53 (36.5) | 0.101 |
| Other visceral involvement | 34 (50.7) | 10 (35.7) | 0.487 | 29 (20) | 0.001 |
| CNS involvement, n (%) | 5 (7.5) | 0 | 0.298 | 5 (3.4) | 0.482 |
GI: Gastrointestinal; ACVRL1: Activin A receptor type II-like 1 gene; ENG: Endoglin gene; SD: Standard deviation; CI: Cardiac index; sPAP: Systolic pulmonary artery pressure; TTE: Transthoracic echocardiography; CNS: Central nervous system. * Comparison between GI involvement and unsuspected GI involvement groups.