Phenotypic characteristics of patients with collagen-binding mutations
| . | p.S1731T . | p.W1745C . | p.S1783A . | p.H1786D . |
|---|---|---|---|---|
| No. of patients | 6 | 2 | 2 | 1 |
| Bleeding score* | 0-2† | 4-8 | 5-10 | 8 |
| VWF:Ag, IU/dL | 0.30-0.75 | 0.29-0.52 | 0.68-0.88 | 0.41 |
| VWF:RCo, IU/dL | 0.30-0.64 | 0.27-39 | 0.57-0.66 | 0.44 |
| CB:Ag ratio | 0.4-0.9 | 0.1-0.3 | 0.2-0.4 | 0.5 |
| Multimers | Normal | Normal | Normal | Normal |
| References | 16 | 17 | 17 | 15 |
| . | p.S1731T . | p.W1745C . | p.S1783A . | p.H1786D . |
|---|---|---|---|---|
| No. of patients | 6 | 2 | 2 | 1 |
| Bleeding score* | 0-2† | 4-8 | 5-10 | 8 |
| VWF:Ag, IU/dL | 0.30-0.75 | 0.29-0.52 | 0.68-0.88 | 0.41 |
| VWF:RCo, IU/dL | 0.30-0.64 | 0.27-39 | 0.57-0.66 | 0.44 |
| CB:Ag ratio | 0.4-0.9 | 0.1-0.3 | 0.2-0.4 | 0.5 |
| Multimers | Normal | Normal | Normal | Normal |
| References | 16 | 17 | 17 | 15 |
All of the subjects included were heterozygous for the collagen-binding mutation, except 1 of the p.W1745C subjects who was compound heterozygous for a second missense mutation associated with type 1 VWD (p.R760H).
The condensed MCMDM-1 and original MCMDM-1 questionnaires were used.18,19 A score of ≥4 is abnormal.
A bleeding score was only available for 4 of 6 of these subjects.