Table 1.

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

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.