Table 2.
Visceral AVMs and comorbidities of the included patients. ACVRL1, activin receptor-like kinase 1 (HHT type 2); AVM, arteriovenous malformation; COPD, chronic obstructive pulmonary disease; CVM, cerebrovascular malformations; ENG, endoglin (HHT type 1); HHT, Hereditary Hemorrhagic Telangiectasia; HVM, hepatic vascular malformation; SD, standard deviation; SMAD4, SMAD family member 4 (juvenile polyposis/HHT overlap syndrome). * For these AVMs, screening is only performed on indication.
| HHT Group (n = 717) | Control Group (n = 471) | |
|---|---|---|
| PAVM (%) | 255 (36) | 32 (7) |
| ENG (n = 319) | 176 | - |
| ACVRL1 (n = 325) | 47 | - |
| SMAD4 (n = 29) | 12 | - |
| Mutation unknown (n = 44) | 20 | - |
| PAVM embolotherapy | 175 | 28 |
| CVM (%) | ||
| Yes | 28 (4) | 4 (2) |
| No | 404 (56) | 0 |
| Unknown/not screened | 285 (40) | 467 (99) |
| CVM treatment | ||
| No treatment | 14 | 1 |
| Surgery | 5 | 1 |
| Radiotherapy | 3 | 1 |
| Embolotherapy | 2 | 1 |
| Combination | 4 | 0 |
| HVM (%) * | 75 (11) | 3 (<1) |
| Gastrointestinal telangiectases (%) * | 72 (10) | 6 (1) |
| Other AVMs (%) * | 14 (2) | 4 (1) |
| Spinal | 4 | 0 |
| Pancreatic | 3 | 0 |
| Renal | 2 | 1 |
| Urinary bladder | 2 | 1 |
| Splenic | 1 | 0 |
| Muscular | 1 | 2 |
| Ocular | 1 | 0 |
| Anemia (%) | 212 (30) | 28 (6) |
| Comorbidities (%) | ||
| Malignancy | 36 (5) | 21 (5) |
| Atrial fibrillation | 36 (5) | 13 (3) |
| COPD and bronchiectasis | 28 (4) | 16 (3) |
| Acute coronary disease | 26 (4) | 10 (2) |
| Venous thromboembolism | 25 (4) | 8 (2) |
| Autoimmune disease | 21 (3) | 23 (5) |
| Pulmonary hypertension | 19 (3) | 2 (< 1) |
| Diabetes mellitus type 2 | 16 (2) | 19 (4) |
| Peripheral vascular disease | 15 (2) | 7 (2) |
| Disease complications (%) | ||
| Cerebrovascular accident | 49 (7) | 22 (5) |
| High-output heart failure | 14 (2) | 0 (0) |
| Brain abscess | 11 (2) | 3 (1) |