A young female presented with menorrhagia. On evaluation she was found to have increased apTT and bleeding time of 15 minutes. Her factor VIII levels are 10% of normal. What is the most probable diagnosis

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  • Glanzman thromboasthenia
  • Hemophilia A
  • Hemophilia B
  • Von Willibrand factor deficiency

 

Correct Answer : Von Willibrand factor deficiency
Ref : Harrisons 17th edition page no 724
 
Von Willebrand disease is characterized by prolonged bleeding time and a prolonged PTT. The prothrombin time is normal.
In Hemophilia A (factor VIII deficiency) and B (factor IX deficiency) โ€“ bleeding time is normal, APTT is prolonged
Glanzmann thrombasthenia is a geneticย platelet disorderย in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either deficient or present but dysfunctional.ย Prothrombin time and PTT is normal with prolonged bleeding time
 
 
Von Willebrand disease
It is an Autosomal dominant disease (most common inheritance)

It is the most common inherited bleeding disorder

Menorrhagea is a common manifestation of VWD.

ย VWF serves two roles: (1) as the major adhesion molecule (large VWF multimers) that tethers

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  the platelet to the exposed subendothelium

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  (2) as the binding protein for FVIII, resulting in significant prolongation

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  of the FVIII half-life in circulation.

VWD has been classified into three major types

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  ย Type 1 VWD โ€“decrease in VWF protein, VWF function, and FVIII levels

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  It is the most common type

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  Type 2 VWD โ€“ย  have functional defects in VWF

ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย  Type 3 VWD or severe VWD โ€“ virtually no VWF protein and FVIII levels <10%

Investigations

Bleeding time is increased (normal in Hemophilia)

Clotting time is increased

Prolonged PTT

Normal Prothrombin time

Decreased factor VIII

Decreased Ristocetin cofactor ( normal in Hemophilia)

Treatment

1-deamino-8-d-arginine vasopressin (DDAVP, or desmopressin) โ€“ usual dose is 0.3 g/kg intravenously or 2 squirts (1 in each nostril) for patients >50 kg (1 squirt for those <50 kg).

VWF replacement in severe cases

Epsilon aminocaproic acid or tranexamic acid โ€“ for the prevention or treatment of mucosal bleeding.

Coagulation pathway

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