Introduction of von Willebrand disease Types of VWD Symptoms of VWD Diagnosis of VWD Treatment of VWD

1. Presented by:Presented by:
Lawchak Amjad Zanyar AhmadLawchak Amjad Zanyar Ahmad
November 16, 2017
Von WillebrandVon Willebrand
DiseaseDisease
Supervised by:
Dr. Salar Dr. Adnan 1

2. Topic
• Introduction of von Willebrand diseaseIntroduction of von Willebrand disease
• Types of VWDTypes of VWD
• Symptoms of VWDSymptoms of VWD
• Diagnosis of VWDDiagnosis of VWD
• Treatment of VWDTreatment of VWD
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3. What is VWD?What is VWD?
• Von Willebrand disease (VWD) is a genetic disorderVon Willebrand disease (VWD) is a genetic disorder
caused by missing or defective Von Willebrand factorcaused by missing or defective Von Willebrand factor
(VWF)(VWF)
• VWD is the most common bleeding disorderVWD is the most common bleeding disorder
• It is carried on chromosome 12 and occurs equally inIt is carried on chromosome 12 and occurs equally in
men and womenmen and women
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4. Von Willebrand FactorVon Willebrand Factor
Von Willebrand factor (VWF)Von Willebrand factor (VWF): glycoprotein that plays anglycoprotein that plays an
important role in stopping the escape of blood fromimportant role in stopping the escape of blood from
vessels (hemostasis) following vascular injuryvessels (hemostasis) following vascular injury
Von Willebrand factor (vWF) has two major roles:Von Willebrand factor (vWF) has two major roles:
• It facilitates platelet adhesion to damaged endothelium.It facilitates platelet adhesion to damaged endothelium.
• It acts as the carrier protein for FVIII, protecting it fromIt acts as the carrier protein for FVIII, protecting it from
inactivation and clearance.inactivation and clearance.
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5. Von Willebrand FactorVon Willebrand Factor
• Thyroid hormone and estrogen promote vWFThyroid hormone and estrogen promote vWF
synthesis.synthesis.
• Deficiency of thyroid hormone reduces vWF in bothDeficiency of thyroid hormone reduces vWF in both
normal subjects and patients with vWD.normal subjects and patients with vWD.
• Patients with mild vWD who take birth control pillsPatients with mild vWD who take birth control pills
or estrogen replacement therapy may increase theiror estrogen replacement therapy may increase their
slightly low vWF levels into normal range.slightly low vWF levels into normal range.
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6. Von Willebrand DiseaseVon Willebrand Disease
Normal hemostasisNormal hemostasis VWDVWD
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7. Types of vWDTypes of vWD
There are three main types of VWD A fourth type acquired VWD isThere are three main types of VWD A fourth type acquired VWD is
not hereditary.not hereditary.
 Type 1 VWD is found in 60%-80% of patients.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 patientsType 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.
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8. Types of vWDTypes of vWD
 Type 3 VWD is found in 5%-10% of patients.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 .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
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9. Types of vWDTypes of vWD
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10. Heredity of von WillebrandHeredity of von Willebrand
diseasedisease
• Von Willebrand disease is caused by a defect onVon Willebrand disease is caused by a defect on
chromosome 12 . The defect could be on thechromosome 12 . The defect could be on the
chromosome 12 from the mother or from fatherchromosome 12 from the mother or from father..
• TheThe genegene forfor von Willebrand factorvon Willebrand factor is on one ofis on one of
thethe autosomesautosomes,, chromosomechromosome 12. Since it is not on the12. Since it is not on the
sex chromosome, it occurs equally in men and women.sex chromosome, it occurs equally in men and women.
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11. Heredity of von WillebrandHeredity of von Willebrand
diseasedisease
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12. Symptoms of Von WillebrandSymptoms of Von Willebrand
DiseaseDisease
– 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.
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13. Clinical manifestationClinical manifestation
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14. NOTESNOTES
• Symptoms of VWD can begin at any ageSymptoms of VWD can begin at any age
• The symptoms of VWD vary greatly from personThe symptoms of VWD vary greatly from person
to personto person
• VWD is the most common bleeding disorderVWD is the most common bleeding disorder
• It is carried on chromosome 12It is carried on chromosome 12
• occurs equally in men and womenoccurs equally in men and women
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15. Diagnosis of vWDDiagnosis of vWD
Because many people with von Willebrand disease haveBecause many people with von Willebrand disease have
mild signs and symptoms, the condition can be difficult tomild signs and symptoms, the condition can be difficult to
diagnose.diagnose.
To find out if a person has von Willebrand disease (VWD),To find out if a person has von Willebrand disease (VWD),
the doctor will ask questions about personal and familythe doctor will ask questions about personal and family
histories of bleeding.histories of bleeding.
The test may include:The test may include:
•Platelet count is normalPlatelet count is normal
•PT and TT are normalPT and TT are normal
•Prolonged PTT and bleeding timeProlonged PTT and bleeding time
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16. Diagnostic testDiagnostic test
• Specific tests are required to diagnose which bleedingSpecific tests are required to diagnose which bleeding
disorder is there. Often these tests need to be repeateddisorder is there. Often these tests need to be repeated
several times before an accurate diagnosis can beseveral times before an accurate diagnosis can be
made. This is because the levels of clotting factors in themade. This is because the levels of clotting factors in the
blood vary over time as a result of changes the bodyblood vary over time as a result of changes the body
might be reacting to―such as stress, pregnancy, andmight be reacting to―such as stress, pregnancy, and
infections―that can affect the test results.infections―that can affect the test results.
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17. Diagnostic testDiagnostic test
blood tests to diagnoseblood tests to diagnose vWDvWD include:include:
 Factor VIII: C
 This measures the amount of factor VIII
clotting activity.
 VWF: antigen  This measures the amount of von
Willebrand factor.
 Ristocetin cofactor activity  This measures how well the VWF works.
 VWF multimers  This examines the structure of the VWF.
 Platelet function tests  These measure how well the platelets
work.
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18. TreatmentTreatment
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
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19. Treatment of Von WillebrandTreatment of Von Willebrand
DiseaseDisease
 CryoprecipitateCryoprecipitate
 Source of fibrinogen, factor VIII and VWFSource of fibrinogen, factor VIII and VWF
 DDAVP (deamino-8-arginive vasopressin)DDAVP (deamino-8-arginive vasopressin)
 Increase plasma VWF levels by stimulating secretionIncrease plasma VWF levels by stimulating secretion
from endotheliumfrom endothelium
 Duration of response is variableDuration of response is variable
 Dosage 0.3Dosage 0.3 μμg/kg q 12hr IVg/kg q 12hr IV
 Factor VIII concentrateFactor VIII concentrate
 Virally inactivated productVirally inactivated product
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