Screening for visceral involvement in 93 HHT2 patients
| No of HHT2 patients screened for | |||||
|---|---|---|---|---|---|
| Family | Total No of HHT2 patients | PAVM | CAVM/spinal AVM | GI telangiectasia | Hepatic shunting |
| PAVM screening was performed using a sensitive screening protocol, described in Materials and methods, except for two patients who had a basic screening only (physical examination and chest radiography) a. CAVM screening was done using cerebral MRI, except for one patient screened with CT b. Spinal MRI was performed in two patients c. GI involvement was based on screening for iron deficiency anaemia except for four patients who underwent endoscopy d and one with a GI telangiectasia detected during unrelated GI surgery e. Screening for hepatic shunts was basic and included physical examination (hepatic bruit) and serum liver function tests; patients screened by mesenteric Doppler f; patients who underwent diagnostic mesenteric angiography g or were screened by MRI h. | |||||
| 20-1 | 4 | 2a | 0 | 3+1e | 0 |
| 20-2 | 10 | 4 | 2 | 5 | 1+3f,g |
| 38 | 7 | 5 | 5 | 5 | 4+1f |
| 41 | 8 | 5 | 5 | 5 | 5 |
| 64 | 2 | 2 | 1 | 1d | 1f,g |
| 75 | 5 | 2 | 2 | 0 | 0 |
| 106 | 11 | 1 | 0 | 2d | 0 |
| 110 | 6 | 3 | 3 | 1 | 1+1f |
| 129-1 | 17 | 6 | 2c | 1d | 0 |
| 129-2 | 5 | 2 | 1+1b | 0 | 2g |
| 129-3 | 4 | 1 | 0 | 0 | 0 |
| 170 | 11 | 5 | 3 | 0 | 1f +2h |
| 181 | 3 | 2 | 2 | 0 | 2f,g |
| Total | 93 | 40 | 27 | 24 | 24 |