Personal history of excessive mucocutaneous bleeding. Family history of excessive bleeding. Laboratory tests of hemostasis consistent with VWD
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- Erica Josephine Marsh
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1 Diagnostic Approach
2 Personal history of excessive mucocutaneous bleeding Family history of excessive bleeding Laboratory tests of hemostasis consistent with VWD
3 Nose Bleeds Skin Bruising Gum Bleeding Menorrhagia Post procedure bleed Post partum bleed In severe type Joint and muscle bleed
4 Good Clinical History Physicians experienced in the management of bleeding disorders. Bleed Score ISTH Bleeding Assessment Tool
5
6 Clinically Validated Assessment standardised Negative Predictive Value Predict Bleeding Wide variation Time consuming Not helpful in mild disease Paediatric patient may not have had enough haemostatic challenge Christopher Ng et al. Blood 2015;125:
7 Inheritance patterns of von Willebrand disease Type 1 VWD Type 2 VWD 2A, 2B, and 2M Type 2N Type 3 VWD Autosomal dominant ~70% penetrance Autosomal dominant Autosomal recessive Autosomal recessive
8 Screening Test Full Blood Count including Platelet count PT, APTT, Fibrinogen APTT may prolonged PFA- 100 May be abnormal Specific Test Quantity of VW Factor /Antigen Quality of VW Factor / Activity Further Tests Multimer analysis Mutation testing Aggregation study Establish Diagnosis Classification of Type Establish DDAVP response
9 Converts High Molecular Weight to Smaller Molecular Weight Multimer ADAMTS 13 Weibel- Palade Bodies Endothelium
10 Weibel- Palade Bodies ADAMTS 13 Endothelium
11 Megakaryocyte Platelet ADAMTS 13 Weibel- Palade Bodies Endothelium
12 COLLAGEN Platelet
13 8 8 8 Factor 8 Binding Platelet ADHESION VW Factor COLLAGEN
14 8 8 8 ADHESION COLLAGEN
15 A B C D Platelet A1 A A3 A2 D 8 D A A COLLAGEN
16 Synthesis Endothelium and Megakaryocytes Multimers High to low molecular weight Two Functions Platelet Binding to Collagen Factor 8 Binding
17 QUANTITATIVE DEFECT QUALITATIVE DEFECT N O R M A L TYPE 1 TYPE 3 TYPE 2
18 Quantitative Defect NORMAL TYPE 1 TYPE 3
19 Quantitative Defect NORMAL TYPE 1 TYPE 3
20 Qualitative Defect ANTIGEN >>> ACTIVITY NORMAL
21 Qualitative Defect Type 2 N Type 2 A, B, M NORMAL
22 QUANTITATIVE VW - Antigen QUALITATIVE VW Activity VW:RCo Factor VIII assay VW Collagen Binding
23 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Normal Abnormal Are Antigen and Activity both reduced by a similar amount Activity / Antigen > 0.6
24 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Normal Abnormal Are Antigen and Activity both reduced by a similar amount Activity / Antigen > % Type I VWD DDAVP Response
25 Age Blood Group O Inflammation Pregnancy Variation in testing
26 Type 1 VWD USA/ NHLBI EUROPEAN ISTH/ SSC Zimmerman program VWD <30% <40% <2SD below normal Low VWF % Not defined Not defined <40% <40%
27 Mutation in VWF gene 70% cases Mutation spread across the gene Pseudogene, some mutations are seen in controls with normal level The mutation may show variable penetrance
28 Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor by Nicholas L. Smith, Ming-Huei Chen, Abbas Dehghan, David P. Strachan, Saonli Basu, Nicole Soranzo, Caroline Hayward, Igor Rudan, Maria Sabater-Lleal, Joshua C. Bis, Moniek P.M. de Maat, Ann Rumley, Xiaoxiao Kong, Qiong Yang, Frances M.K. Williams, Veronique Vitart, Harry Campbell, Anders Mälarstig, Kerri L. Wiggins, Cornelia M. Van Duijn, Wendy L. McArdle, James S. Pankow, Andrew D. Johnson, Angela Silveira, Barbara McKnight, Andre G. Uitterlinden,, Nena Aleksic, James B. Meigs, Annette Peters, Wolfgang Koenig, Mary Cushman, Sekar Kathiresan, Jerome I. Rotter, Edwin G. Bovill, Albert Hofman, Eric Boerwinkle, Geoffrey H. Tofler, John F. Peden, Bruce M. Psaty, Frank Leebeek, Aaron R. Folsom, Martin G. Larson, Timothy D. Spector, Alan F. Wright, James F. Wilson, Anders Hamsten, Thomas Lumley, Jacqueline C.M. Witteman, Weihong Tang, and Christopher J. O'Donnell Circulation Volume 121(12): March 30, 2010 Copyright American Heart Association, Inc. All rights reserved.
29 VWF LEVEL Expected Response Suboptimal Response TIME
30 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Normal Abnormal Are Antigen and Activity both reduced by a similar amount Activity / Antigen > 0.6 < 10 % Type 3 VWD
31 Mutation are scattered Detected in >90% cases Type 3 - Genetic counselling, detecting larger deletion
32 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Abnormal Are Antigen and Activity NOT both reduced by a similar amount ACTIVITY MUCH MORE REDUCED THAN ANTIGEN Activity / Antigen < 0.6 VW:Activity Type 2 A Type 2 B Type 2 M
33 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Abnormal Are Antigen and Activity NOT both reduced by a similar amount ACTIVITY MUCH MORE REDUCED THAN ANTIGEN Activity / Antigen < 0.6 Factor VIII Type 2 N
34 VW: Antigen, VW: Activity, Factor VIII, Platelet Count Abnormal Are Antigen and Activity NOT both reduced by a similar amount ACTIVITY MUCH MORE REDUCED THAN ANTIGEN Activity / Antigen < 0.6 VW:Activity Type 2 A Type 2 B Type 2 M Factor VIII Type 2 N
35 VW Activity VW Collagen Binding 8 Normal Abnormal ADHESION VW Factor COLLAGEN MULTIMER TESTING Loss of High Molecular Weight Multimer
36 Low Platelet count Low Antigen 8 Low activity RIPA ADHESION VW Factor COLLAGEN
37 NORMAL RESPONSE Type 2 B response High Dose Low Dose
38 Low Platelet count /Antigen Activity 8 RIPA PseudoVWD Mutation Testing COLLAGEN ADHESION VW Factor
39 VW Activity LOW VW Collagen Binding Normal 8 ADHESION VW Factor COLLAGEN Normal MULTIMER TESTING
40 Difference between VW Antigen and Factor Affect male and female Need to exclude mild haemophilia Factor 8 Binding test Mutation Testing COLLAGEN ADHESION VW Factor
41 Type 2 - More localized Type 2B to differentiate from Pseudo, Type 2N to differentiate from Mild Haemophilia Type 3 - Genetic counselling, detecting larger deletion
42 Diagnostic algorithm. Christopher Ng et al. Blood 2015;125: by American Society of Hematology
43 Limited but defined role of Mutation testing Multimer analysis
44 Thank You
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