Pregnancy in type 2B VWD: a case series

Area of Science:

• Hematology
• Obstetrics
• Genetics

Background:

• Type 2B von Willebrand disease (VWD) is a rare inherited bleeding disorder caused by qualitative von Willebrand factor (VWF) defects.
• Limited data exists on quantifying bleeding risk and managing hemostasis in pregnant patients with type 2B VWD.

Observation:

• This case series reports on four pregnancies in three women with type 2B VWD, focusing on VWF parameters and management.
• An unexpected rise in VWF:Ag with significant thrombocytopenia was observed at 37 weeks gestation in two sisters with the R1306W mutation.
• No thrombocytopenia occurred in a patient with the R1308C mutation.

Findings:

• Patients with R1306W mutations required platelet transfusions and VWF-FVIII plasma concentrates peri- and postpartum.
• The patient with the R1308C mutation was managed with VWF-FVIII plasma concentrates alone.
• All pregnancies resulted in live, healthy infants with no adverse bleeding events during delivery.

Implications:

• This is the first case series detailing laboratory progression, management, and outcomes of type 2B VWD pregnancies.
• Increased VWF variant production presents challenges, necessitating continuous monitoring of VWF parameters and platelet counts throughout pregnancy.
• Effective hemostatic support strategies can lead to successful pregnancy outcomes in type 2B VWD patients.