Our July 2022 Quick Question asked, "What VWD subtype is identified using the reduced concentration RIPA test?" We received 30 votes. Here are our answers:
- VWD Type 1: 10% [3]
- VWD Type 1C: 0
- VWD Subtype 2A: 3%
- VWD Subtype 2B: 87%
- VWD Subtype 2M: 0
- VWD Subtype 2N: 0
- VWD Type 3: 0
Few of us were misled by this question. The ristocetin-induced platelet aggregation [RIPA
] test that uses patient platelets and reduced ristocetin concentration is the traditional test we use to identify VWD
Subtype 2B, where the abnormality is caused by a gain-of-function mutation that raises the VWF
avidity for its platelet receptor site.
VWD
Type 1 is a quantitative VWF
deficiency that is identified using the VWF
:Ag test or one of the VWF
activity assays, such as the time-honored VWF
:RCo, the VWF
:CB, VWF
:GPIbR, or the VWF
:GPIbM.
Subtype 1C hasn't appeared in Fritsma Factor before. It is a quantitative VWF
deficiency in which the VWF
secretion rate is near-normal, but its plasma half-life is reduced to 1–3 hours. Subtype 1C is identified using molecular tests.
VWD
Subtype 2M is caused by a qualitative VWF
disorder in which VWF
possesses reduced avidity for its platelet receptor site, and Subtype 2N [Normandy] is a mutation in the factor VIII binding site that reduces factor VIII adhesion, causing hemophilia-like symtoms in both males and females.