Baseline characteristics of the 2 groups
| . | HHT N = 100 . | VWD N = 100 . |
|---|---|---|
| Age in y, mean (range) | 49 (14-87) | 49 (14-87) |
| Gender identity, n (%) | ||
| Female | 97 (97) | 100 (100) |
| Female/nonbinary | 3 (3) | 0 (0) |
| Race, n (%) | ||
| White | 88 (88) | 90 (90) |
| Black | 2 (2) | 3 (3) |
| Asian | 5 (5) | 3 (3) |
| Not available | 5 (5) | 4 (4) |
| Hispanic ethnicity, n (%) | 0 (0) | 5 (5) |
| Disease subtype | HHT-1 31 (31) | Type 1 83∗ |
| HHT-2 34 (34) | Type 2A 2 | |
| Other/no gene testing† 35 (35) | Type 2B 8 | |
| Type 2, NOS 7 | ||
| Body mass index in kg/m2, mean (IQR) | 27.0 (22.1-29.9) | 27.0 (22.9-30.1) |
| . | HHT N = 100 . | VWD N = 100 . |
|---|---|---|
| Age in y, mean (range) | 49 (14-87) | 49 (14-87) |
| Gender identity, n (%) | ||
| Female | 97 (97) | 100 (100) |
| Female/nonbinary | 3 (3) | 0 (0) |
| Race, n (%) | ||
| White | 88 (88) | 90 (90) |
| Black | 2 (2) | 3 (3) |
| Asian | 5 (5) | 3 (3) |
| Not available | 5 (5) | 4 (4) |
| Hispanic ethnicity, n (%) | 0 (0) | 5 (5) |
| Disease subtype | HHT-1 31 (31) | Type 1 83∗ |
| HHT-2 34 (34) | Type 2A 2 | |
| Other/no gene testing† 35 (35) | Type 2B 8 | |
| Type 2, NOS 7 | ||
| Body mass index in kg/m2, mean (IQR) | 27.0 (22.1-29.9) | 27.0 (22.9-30.1) |
NOS, not otherwise specified.
Forty patients with a confirmed diagnosis of VWD did not have a confirmed subtype as specified in the chart. For classification purposes, patients with a VWD:RCo/VWF:Ag ratio <0.6 were grouped with the type 2, NOS subgroup, and those with a VWD:RCo/VWF:Ag ratio >0.6 or an unknown VWD:RCo/VWF:Ag ratio were grouped with the type 1 subgroup.
HHT is diagnosed principally using the Curacao criteria, a set of 4 clinical criteria. All patients included had definite HHT per the Curacao criteria and/or a genetic mutation in a gene known to cause HHT. Genetic testing is not required for HHT diagnosis and may not be performed due to cost concerns.