VON

WILLEBRAND’S
DISEASE

SARIT LEVINSKY
m1656
 ◦ Is the most common hereditary blood-
clotting disorder in humans. An acquired
form can sometimes result from other
medical conditions. It arises from a
What is it? deficiency in the quality or quantity of
von Willebrand factor (vWF), a
multimeric protein that is required for
platelet adhesion.
 ◦ Von Willebrand disease was discovered by
Eric Von Willebrand in 1926
◦ Secreted from weibel palade bodies of
endothelial cells and alfa granules of platelets
◦ Normal plasma level - 10 mg/L

A little bit of ◦ Half life of 6-15 hours

◦ Von Willebrand factor is located on
info… chromosome 12p
◦ Prevalence 1-100
◦ Most people don’t present any symptoms
◦ May be severe of apparent in people with
blood type O
ROLE OF
VWF
 Platelet type

◦ Platelet-type vWD (also known as pseudo-vWD) is an autosomal dominant genetic

defect of the platelets. The vWF is qualitatively normal and genetic testing of the von
Willebrand gene and vWF protein reveals no mutational alteration. The defect lies in
the qualitatively altered GP-Ib receptor on the platelet membrane which increases its
affinity to bind to the vWF. Large platelet aggregates and high molecular weight vWF
multimers are removed from the circulation resulting in thrombocytopenia and
diminished or absent large vWF multimers.
 Acquired type

◦ Acquired vWD can occur in patients with autoantibodies. In this case, the function of vWF is
not inhibited, but the vWF-antibody complex is rapidly cleared from the circulation.
◦ A form of vWD occurs in patients with aortic valve stenosis, leading to gastrointestinal
bleeding (Heyde's syndrome). This form of acquired vWD may be more prevalent than is
presently thought.
 LOOK FOR FAMILY BT IS INCREASED PLATELET COUNT
HISTORY AND PT ARE
NORMAL

diagnosis

ACTIVATED RISTOCETIN
PARTIAL COFACTOR ASSAY
PROTHROMBIN
TIME IS
PROLONGED
 Risocethin cofactor assay

Risocethin, an
At the lab the blood antibiotic that causes
Collection of blood
cells are separated vwf and platelets stick
sample from a vein
from the plasma together is added to
the plasma

In the presence of Blood that's deficient

risocethin, blood with in vWF or has
adequate vWF clots defective vWF won't
.normally .clot
 Bleeding episode – DDAVP

Treatment Menorrhagia – OCPs

Humate p, alphante
prophylaxis
AVOID ASPIRIN HUMAN-DERIVED
MEDIUM PURITY
FACTOR VIII
CONCENTRATES
 ◦ AD
◦ Source – weible palade bodies of endothelial cells
and alfa granules of platelets
◦ Deficiency in vwf and decreased level of factor 8
◦ Most common form is type 1

summary ◦ Most severe form is type 3

◦ Often presents in childhood with recurrent or
prolonged mucosal bleeding
◦ Bleeding occurs after dental extraction or surgical
procedures
◦ Often a family history is present