VWD and clotting disorders

Question 1

Investigations for coagulation defect?

Answer 1

FBC - may have low platelets (in VWD type 2a due to abnormal affinity to and sequestration of VWF)
Clotting - low APTT in VWD
VWF antigen
Factor VIII
Ristocetin co-factor (measure platelet activation)

Question 2

Treatment for VWD and HMB?

Answer 2

Medical:

• COCP (as effective as DDAVP, increases fibrinogen, prothrombin, factor VII, factor VIII and/or vWF)
• TXA
• DDAVPP (Desmopressin) - causes release of VWF from endothelial cells and platelets increasing circulating levels
• Factor VIII and/or VWF replacement
• Mirena

Surgical:

• Ablation
• Hysterectomy

Question 3

Epidemiology and inheritance

Answer 3

Prevalence = 1% (though only 0.1% symptomatic)

Most cases autosomal dominant, though rarer subtypes can be autosomal recessive