Table 1. VWD subtypes, pathophysiology,... | American Society of Hematology

Table 1.

VWD subtypes, pathophysiology, and inheritance pattern

Defect type	Subtype	Pathophysiology	Inheritance
Quantitative defect	1	Partial quantitative deficiency^a,^b	Autosomal dominant, variable penetrance
	3	Complete quantitative deficiency	Autosomal recessive
Qualitative defect (protein dysfunction)	2A	Decreased VWF-dependent adhesion due to loss of HMWM	Autosomal dominant
	2B	Increased affinity of VWF for platelet GPIb	Autosomal dominant
	2M	Decreased VWF-dependent adhesion to collagen or platelets without loss of HMWM	Autosomal dominant
	2N	Decreased binding of VWF to FVIII	Autosomal recessive

Defect type	Subtype	Pathophysiology	Inheritance
Quantitative defect	1	Partial quantitative deficiency^a,^b	Autosomal dominant, variable penetrance
	3	Complete quantitative deficiency	Autosomal recessive
Qualitative defect (protein dysfunction)	2A	Decreased VWF-dependent adhesion due to loss of HMWM	Autosomal dominant
	2B	Increased affinity of VWF for platelet GPIb	Autosomal dominant
	2M	Decreased VWF-dependent adhesion to collagen or platelets without loss of HMWM	Autosomal dominant
	2N	Decreased binding of VWF to FVIII	Autosomal recessive

Includes subtype 1C characterized by increased clearance.

Compound heterozygosity type 1/2N (biallelic variants, 1 quantitative and 1 affecting FVIII on the other allele) can lead to low VWF antigen and activity (with a conserved ratio) and low FVIII that is out of proportion to the VWF antigen.

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