Clinical characteristics of the testing cohort
| Sample | Age (years) | Family history | Visceral lesions | Telangiectasia | Epistaxis | Other | HHT status | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HHT status was- as defined by the Curaçao criteria.21 *SMAD4 mutation positive patients. N/A, not available; GI, gastrointestinal. | ||||||||||||||
| UP001 | 18 | Yes | Yes | N/A | N/A | Possible | ||||||||
| UP002 | 61 | Yes | Yes | N/A | Yes | GI bleeding | Definite | |||||||
| UP003 | 73 | Yes | Yes | Yes | N/A | Definite | ||||||||
| UP004 | 77 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP005 | 21 | N/A | Yes | N/A | Yes | Possible | ||||||||
| UP006 | 37 | N/A | N/A | Yes, (rectal) | Yes | Possible | ||||||||
| UP007 | 73 | Yes | Yes | N/A | Yes | GI bleeding | Definite | |||||||
| UP008 | 54 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP009 | 23 | N/A | Yes | Yes | Yes | Definite | ||||||||
| UP010 | 38 | N/A | Yes (lung) | Yes | N/A | Stroke | Possible | |||||||
| UP011 | 78 | N/A | Yes | N/A | Yes | GI bleeding | Possible | |||||||
| UP012 | 74 | Yes | N/A | Yes | Yes | Definite | ||||||||
| UP013 | 52 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP014 | 69 | N/A | Yes | Yes | Yes | Definite | ||||||||
| UP015* | 37 | No | Yes (lung, GI) | Yes | Yes | GI bleeding, colonic polyps | Definite | |||||||
| UP016 | 36 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP017 | 69 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP018 | 32 | Yes | Yes | Yes | N/A | Definite | ||||||||
| UP019 | 87 | Yes | Yes | Yes | Yes | Definite | ||||||||
| UP020 | 56 | N/A | Yes (stomach) | Yes | Yes | Definite | ||||||||
| D1827 | 47 | Yes | Yes (liver) | Yes (inc. GI) | Yes | Confirmed HHT | Definite | |||||||
| DKCL331 | 44 | Yes | Yes (lung) | Yes | Yes | Confirmed HHT | Definite | |||||||
| D0883 | 63 | Yes | No | Yes | Yes | Confirmed HHT | Definite | |||||||
| D1488 | 44 | Yes | Yes (lung) | Yes | Yes | Confirmed HHT | Definite | |||||||
| D3748 | 51 | Yes | No | Yes | Yes | Confirmed HHT | Definite | |||||||
| 5001 | 56 | Yes | Yes (hip) | Yes | Yes | Confirmed HHT, GI bleeding, gastric polyps | Definite | |||||||
| 5031 | 37 | No | Yes (lung, multiple) | No | Yes | Confirmed HHT, migraines | Possible | |||||||
| 5051 | 46 | Yes | No | Yes (chest) | Yes | Confirmed HHT | Definite | |||||||
| 5068* | 39 | No | Yes (lung) | Yes | Yes | Confirmed HHT, liver shunts | Definite | |||||||
| Yes (in children) | ||||||||||||||
| 3892* | 47 | No | Yes (liver) | Yes (lips, tongue) | Yes | Confirmed HHT, anaemia Colon cancer | Definite | |||||||