PAPER 1 – CLINICAL BIOCHEMISTRY

VON WILLEBRANDS DISEASE

SUBMITTED BY :
Shruti bhutra
M.Sc in biochemistry 3rd semester
SoS IN Life Science
Pt. Ravishankar shukla university
CONTENT
INTRODUCTION
VON WILLEBRAND FACTOR
TYPES OF VWD
SYMPTOMS
DIAGNOSIS
TREATMENT
 WHAT IS VWD
Von Willebrand disease (VWD) is a genetic disorder caused by missing
or defective Von Willebrand factor (VWF).
VWD is the most common bleeding disorder.
It is carried on chromosome 12 and occurs equally in men and
women.
VON WILLEBRAND FACTOR
Von Willebrand factor (VWF): glycoprotein that plays an important
role in stopping the escape of blood from vessels (hemostasis)
following vascular injury
Von Willebrand factor (vWF) has two major roles:
It facilitates platelet adhesion to damaged endothelium.
 It acts as the carrier protein for FVIII, protecting it from
inactivation and clearance.
VON WILLEBRAND FACTOR
Thyroid hormone and estrogen promote vWF synthesis.
Deficiency of thyroid hormone reduces vWF in both normal subjects
and patients with vWD.
• Patients with mild vWD who take birth control pills or estrogen
replacement therapy may increase their slightly low vWF levels into
normal range.
Types of vwd
There are three main types of VWD A fourth type acquired VWD is not
hereditary.
Type 1 VWD is found in 60%-80% of patients.
People with type 1 VWD have a quantitative deficiency of VWF. Levels of
VWF in the blood range from 20%-50% of normal. The symptoms are usually
mild.
Type 2 VWD is found in 15-30% of patients.
People with type 2 VWD have a qualitative deficiency in their VWF.
Type 2 is broken down into four subtypes: type 2A, type 2B, type 2M and
type 2N, depending on the presence and behavior of multimers, molecular
chains of VWF. Symptoms are mild to moderate.
Types of vwd
Type 3 VWD is found in 5%-10% of patients.
People with type 3 VWD have a quantitative deficiency of VWF.
Symptoms are typically severe, and include spontaneous bleeding episodes,
often into their joints and muscles.

▸ 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
Heredity of von Willebrand disease
Von Willebrand disease is caused by a defect on chromosome 12.
The defect could be on the chromosome 12 from the mother or
from father.

The gene for von Willebrand factor is on one of the autosomes,

chromosome 12. Since it is not on the sex chromosome, it occurs
equally in men and women.
symptoms
- Common symptoms of VWD are:
easy bruising
bleeding from nose and gums
prolonged bleeding from skin wound
bleeding from the gums when baby teeth fall out or after tooth
extractions
 heavy or prolonged bleeding during menstruation, called
menorrhagia.
diagnosis
Because many people with von Willebrand disease have mild signs and
symptoms, the condition can be difficult to diagnose.
To find out if a person has von Willebrand disease (VWD), the doctor will ask
questions about personal and family histories of bleeding.
The test may include:
Platelet count is normal
PT and TT are normal
Prolonged PTT and bleeding time
Diagnostic test
• Specific tests are required to diagnose which bleeding disorder is
there. Often these tests need to be repeated several times before
an accurate diagnosis can be made. This is because the levels of
clotting factors in the blood vary over time as a result of changes
the body might be reacting to-such as stress, pregnancy, and
infections-that can affect the test results.
 Diagnostic test
BLOOD TEST TO DIAGNOSE VWD INCLUDES
FACTOR VIII : C This measures the amount of factor viii clotting
activity.
VWF ANTIGEN This measures amount of von Willebrand factor

RISTOCETIN COFACTOR ACTIVITY This measures how well the VWF works

VWF MULTIMERS Examine structures of VWF

PLATELET FUNCTION TEST Measures how well the platelet works

TREATMENT
Treatment for von Willebrand disease (VWD) is based on the type of VWD and
how severe it is. The mainstay of treatment is DDAVP (desmopressin acetate)
It stimulates the release of VWF from cells

Medicines are used to:

- Increase the amount of von Willebrand factor and factor VIII released into
the bloodstream
- Replace von Willebrand factor
- Prevent the breakdown of blood clots
- Control heavy menstrual bleeding in women
TREATMENT
Cryoprecipitate
Source of fibrinogen, factor VIII and VWF

* DDAVP (deamino-8-arginive vasopressin)

Increase plasma VWF levels by stimulating secretion from endothelium
Duration of response is variable
Dosage 0.3 µg/kg q 12hr IV

Factor VIII concentrate

Virally inactivated product
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