Von Willebrand Disease

RAHUL SUTHAR
GRP 2
Von Willebrand factor
 vWF is a large multimeric glycoprotein present in blood plasma
 Deficient and/or Defective in von Willebrand disease
• Including,
• Thrombotic thrombocytopenic purpura,
• Heyde's syndrome, and
• Hemolytic–uremic syndrome

 It is produced constitutively as ultra-large VWF in endothelium (in the

Weibel–Palade bodies), megakaryocytes (α-granules of platelets), and
subendothelial connective tissue
 vWF Functions
 Primary function is binding to other proteins, in particular factor VIII, and it is
important in platelet adhesion to wound sites
 Factor VIII is bound to VWF
In the absence of VWF, factor VIII has a half-life of 1–2 hours
intact VWF-factor VIII has a half-life of 8–12 hours

VWF binds to collagen - forms links between the platelets' glycoprotein and the collagen fibrils
VWF binds to platelet
Recent research also suggests that von Willebrand Factor is involved in the 
formation of blood vessels themselves
Von Willebrand disease
 The most common hereditary blood-clotting disorder in humans
 deficiency in the quality or quantity of von Willebrand factor (VWF)
 Affects chromosome 12, Autosomal Dominant
TYPES
1. Type 1
2. Type 2 (4 subtypes)
3. Type 3
4. Acquired
 TYPES

Acquired VWD
This type of VWD in adults results after a diagnosis
of an autoimmune disease, such as Lupus, or from
heart disease or some types of cancer. It can also
occur after taking certain medications
SYMPTOMS

 Menorrhagia
 DIAGNOSIS
Blood plasma of a patient must be investigated for quantitative and qualitative
deficiencies of VWF
VWF antigen assay and the functionality of VWF with a glycoprotein (GP)Ib binding
assay, ristocetin cofactor activity (RiCof) or ristocetin-induced platelet agglutination
(RIPA) assays.
Factor VIII levels are also performed because factor VIII is bound to VWF
TREATMENT
CASE STUDY
A 2-year old boy was brought to the emergency department by his mother for
oozing blood from his mouth following a fall nearly 6 hours ago. His mother related
that he tended to bleed for prolonged periods from his immunization sites, but
there was no history of bruising or hematomas. The patient was on antibiotics for a
recent ear infection. There was no known family history of a bleeding disorder.

PHYSICAL EXAMINATION:
GENERAL: Alert, in no apparent distress, development appropriate for age
HEENT: Two small lacerations on the inside of lower lip, oozing blood
Remainder of exam within normal limits (notably, no petechia, bruises, joint swelling)
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