TABLE 1.

Characterization of patients with VWD

Patient	Family	Age	Sex	Blood group	VWD type	VWF:Aga [0.60‐1.40]	VWF:Aba [0.60‐1.40]	VWF:CBa [0.60‐1.40]	FVIII:Ca [0.60‐1.40]	VWFpp	Platelet countb [150‐400]	BS	Mutation	DNA
1	…	33	M	O	3	0.00	0.00	0.00	0.00	0.00	302	34	Δexon 4‐5 +p.L2306R fs*4 compound het	Del exon4‐5 +c.6917delT, exon 40
2	2 + 3 + 4	14	F	B	3	0.05	0.04	…	0.04	0.00	328	20	p.C1190R hom	c.3568T>C, exon 27
3	2 + 3 + 4	18	M	A	2A	0.29	0.12	…	0.52	0.39	294	4	p.C1190R het	c.3568T>C, exon 27
4	2 + 3 + 4	43	F	O	2A	0.24	0.05	0.10	0.42	0.45	261	3	p.C1190R het	c.3568T>C, exon 27
5	…	57	F	O	2A	0.84	0.25	0.23	0.57	0.89	316	10	p.C1190Y het	c.3569G>A, exon 27

Clinical and laboratory data is shown for all five patients with VWD included in this study.

Reference values are shown in brackets.

Abbreviations: BS, bleeding score as determined by the ISTH Bleeding Assessment Tool⁵³; FVIII:C, factor VIII activity (IU/mL); het, heterozygous, hom, homozygous; VWF:Ab, von Willebrand factor activity (IU/mL); VWF:Ag, von Willebrand factor antigen (IU/mL); VWF:CB, von Willebrand factor collagen binding (IU/mL); VWFpp, von Willebrand factor propeptide levels (IU/mL).

^a Historically lowest levels.

^b Average over last four most‐recent measurements (*10⁹/L).