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von Willebrand Disease (VWD)

Rosita Juwita Sembiring

Frequency of Hereditary Bleeding Disorders


Symptomatic Male von Willebrand Hemophilia A 1/100 1/10,000 1/50,000 Factor XI 1-10/ 1,000,000* Female 1/100 1/100,000,000 1/500,000,000 1/100,000

Female Carrier
N/A 1/100,000 1/500,000 N/A

Hemophilia B

*In some populations 1/10,000 or less (1/500 for Ashkenazi Jews)

Evaluation of the Bleeding Patient

Patients history Family history Physical findings Laboratory evaluation

Evaluation of the Bleeding Patient

Type and extent of bleeding (eg, mucous membrane bleeding, petechiae, hemarthrosis, severity, etc.)

Past history of bleeding, surgery, dental extractions


Family history of bleeding disorder, autoimmune disease Underlying diseases (eg, liver disease, renal failure, malabsorption syndrome, sepsis, SLE)

Symptoms of von Willebrand Disease (VWD)


Nose bleeds (epistaxis) Gum bleeds (gingival bleeding) Excessive bruising Gastrointestinal bleeding Bleeding following tooth extraction Post-operative bleeding Heavy periods (menorrhagia) Postpartum hemorrhage Heavy bleeding following cuts

Characteristics of Classic (Type 1) von Willebrand Disease


Prolonged BT FVIII, R: Co, and VWF: Ag are proportionately decreased

Diagnostic Tests for Suspected von Willebrand Disease


FVIII

Ristocetin cofactor assay (R:Co) *


von Willebrand factor antigen (VWF:Ag)

Bleeding time (BT)

*The ristocetin cofactor assay measures VWF activity

Historical Diagnosis of von Willebrand Disease

Prolonged bleeding time with normal platelet count

Autosomal dominant mode of inheritance

Type 1 VWD
most common type of VWD - 70-80% reduced VWF:Ag and VWF:RCo in parallel often, PTT and BT are normal VWF multimers are normal, but reduced concentration inheritance is usually autosomal dominant, occ. recessive very common genetic defect - up to 1-2% of population decreased VWF protein, sometimes reduced mRNA

Treatment:
DDAVP is treatment of choice ! VWF concentrate reserved for those unresponsive to DDAVP or if intensive treatment is required
VWF:Ag VWF:RCo FVIII 32 u/dl 31 u/dl 63 u/dl

Types of von Willebrand Disease

Type I: quantitative - normal multimers but decreased amounts Type 2: qualitative abnormality in VWF

2A: absence of (the hemostatically most effective) large multimers of VWF 2B: the large multimers of VWF are abnormal, having a heightened affinity for platelets

Type 3: severe form of VWD- extremely low levels of VWF and FVIII

What is Hemophilia?

Hemophilia is an inherited bleeding disorder in which there is a deficiency or lack of factor VIII (hemophilia A) or factor IX (hemophilia B)

Types of Bleeding Disorders


Hemophilia A (factor VIII deficiency) Hemophilia B (factor IX deficiency)

Incidence

Hemophilia A: 1:5000 male births

Hemophilia B: 1:30,000 male births

Coagulation Cascade X II
TF VIIa VIII/vWF Xa Va IIa VIIIa V Va Platelet TF-Bearing Cell TF IXa IXa VIIa

IX X

II
Xa Va Va

VIIIa

IIa IIa

VIIa
IX

Activated Platelet IXa VIIIa Xa X

II

Hoffman et al. Blood Coagul Fibrinolysis 1998;9(suppl 1):S61.

Inheritance

Hemophilia A and B are X-linked recessive disorders Hemophilia is typically expressed in males and carried by females Severity level is consistent between family members 30 % of cases of hemophilia are new mutations Affects all races and ethnic groups equally Moderate & mild deficiencies under-diagnosed

Genetics

Affected males

All daughters are carriers No sons are affected

Female carrier

50% risk for carrier daughter 50% risk for affected son

Type and Severity


Normal factor VIII or IX level 50-150% Mild hemophilia

factor VIII or IX level 5-50%

Moderate hemophilia

factor VIII or IX level 1-5%

Severe hemophilia

factor VIII or IX level <1%

First Bleed/Diagnosis

Mild

Often has bleeds at an earlier age but not identified till later in life, 3 to 14 years or older usually before 2 years within first year

Moderate

Severe

Bleeding Pattern Mild


Once a year Joint and muscle bleed unusual except with significant trauma Trauma-induced or contact sports: significant hematomas Internal deep bleeding only with significant trauma Post op bleeding

Carriers

Carriers may have low factor levels Carriers may experience bleeding symptoms seen in mild or moderate deficient states Treat carriers as potential bleeders

Bleeding Pattern Moderate

Bleeds once a month Minor trauma causes joint and muscle bleed may have target joints Post surgical: wound hematoma or oozing

Bleeding Pattern Severe

Bleeds once a week Spontaneous joint and muscle bleed Target joints

Types of Bleeds

Joint bleeding - hemarthrosis Muscle hemorrhage Soft tissue Life threatening-bleeding

Other common bleeding

Joint or Muscle Bleeding

Symptoms Tingling or bubbling sensation Stiffness Warmth Pain Unusual limb position

Treatment of Hemophilia

Replacement of missing clotting protein Intravenous infusion On demand Prophylaxis Primary/Secondary

Factor VIII Concentrate


Intravenous infusion

IV push Ranges from 20-50+ units/kg. body weight

Dose varies depending on type of bleeding

Half-life 8-12 hours Each unit infused raises serum factor VIII level by 2 %

Adjunctive Therapy

RICE Rest /Replacement Ice/Immobilization Compression Elevation Antifibrinolytic Agents Amicar (aminocaproic acid) Used for mucocutaneous bleeding
Dosing:

50 mg./kg. q. 6 hours po

Advanced Joint Bleed

Advanced joint and muscle bleed

Hemophilia Treatment Center Team Members


Patient / Family Hematologist

Orthopedist Primary Care

Pediatric
Adult

Genetics
Home Care Company Dental

Nurse

Social Worker
Physical Therapist

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