{"id":5613,"date":"2021-05-21T01:56:18","date_gmt":"2021-05-20T23:56:18","guid":{"rendered":"https:\/\/meddists.com\/learn\/clinical\/hematology\/thrombocytopenia-and-platelet-disorders\/von-willebrand-disease\/"},"modified":"2021-05-26T21:34:47","modified_gmt":"2021-05-26T19:34:47","slug":"von-willebrand-disease","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/hematology\/thrombocytopenia-and-platelet-disorders\/von-willebrand-disease\/","title":{"rendered":"von Willebrand disease"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">In this disorder, there is either a reduced level or abnormal function of von Willebrand factor (vWF) resulting from a wide variety of mainly missense mutations in different parts of the gene. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">vWF (von-Willebrand factor), synthesized in the endothelium (and therefore is also exposed in endothelial damage) and in small quantity by megakaryocytes, is important in&nbsp;<strong>adhesion<\/strong>&nbsp;to the vessel as well as to other platelets (<strong>aggregation<\/strong>).<\/p>\n\n\n<span class=\"block-heading\" id=\"header_1\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Classification<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<ul class=\"wp-block-list\"><li><strong>Quantitative<\/strong> (type 1\/3)<ul><li><strong>Type 1:<\/strong> AD with incomplete penetrance; leads to partial vWF deficiency.<\/li><li><strong>Type 3:<\/strong> AR; leads to complete vWF deficiency.<\/li><\/ul><\/li><li><strong>Qualitative<\/strong> (type 2)<ul><li><strong>Type 2A:<\/strong> AD; high molecular weight multimers are missing leading to impaired function of vWF.<\/li><li><strong>Type 2B:<\/strong> AD; increased affinity for platelet GPIb, thrombocytopenia.<\/li><\/ul><ul><li><strong>Type 2M:<\/strong> AD; reduced vWF activity with normal structure.<\/li><\/ul><ul><li><strong>Type 2N:<\/strong> AR; reduced FVIII binding.<\/li><\/ul><\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Clinical presentation<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<ul class=\"wp-block-list\"><li>Easy bruising<\/li><li>Mucocutaneous bleeding<\/li><li>Postpartum bleeding<\/li><li>GI bleeding<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">In case of type 2N and 3: joint and intramuscular bleeding.<\/p>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Diagnosis<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<ul class=\"wp-block-list\"><li>Bleeding time (rarely used, can be prolonged)<\/li><li>Platelet function analyzer (PFA-100) closure time (\u201ein vitro\u201d bleeding time, can be prolonged)<\/li><li>CBC \/ Platelet count<ul><li>Iron deficiency can be present<\/li><li>Platelet count is generally normal but can be reduced in type 2B vWD<\/li><\/ul><\/li><li>APTT (can be prolonged if FVIII is decreased)<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_4\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Specific tests<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_4\">\n\n\n<ul class=\"wp-block-list\"><li>Quantitative: <ul><li>von Willebrand factor antigen (VWF:Ag)<\/li><\/ul><\/li><li>Qualitative: <ul><li>Ristocetin cofactor assay (VWF:RCo) uses the antibiotic to induce vWF to bind to platelets.<\/li><li>Collagen (Type I) binding activity (VWF:CB)<\/li><li>FVIII coagulant activity (FVIII:C)<\/li><\/ul><\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_5\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Discriminating tests<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_5\">\n\n\n<ul class=\"wp-block-list\"><li>Ristocetin induced platelet aggregation (RIPA)<ul><li>Ristocetin binds to and activates VWF and induces platelet agglutination in the patient\u2019s platelet-rich plasma (PRP)<\/li><li>RIPA can be decreased in type 1 and type 2A, 2M VWD<\/li><li>RIPA has a diagnostic role in type 2B VWD. In type 2B VWD aggregation can be induced at very low (0.5 mg\/ml) ristocetin concentrations (gain of function mutation in VWF)<\/li><\/ul><\/li><li>vWF multimeric analysis<ul><li>The high molecular weight multimers are missing in type 2A and to some extent in type 2B VWD.<\/li><\/ul><\/li><li>FVIII binding capacity (VWF:FVIIIB)<ul><li>ELISA test to measure the ability of VWF to bind FVIII. Decreased in type 2N VWD.<\/li><\/ul><\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_6\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Treatment<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_6\">\n\n\n<ul class=\"wp-block-list\"><li>Avoid aspirin and NSAIDS<\/li><li>Desmopressin<ul><li>Causes release of endogenous VWF from endothelial storage organelles.<\/li><\/ul><\/li><li>Fibrinolysis inhibitors (plasminogen inhibitors)<ul><li>Tranexamic acid<\/li><li>Aminocaproic acid<\/li><li>Contraindication: upper urinary tract bleeding<\/li><\/ul><\/li><li>Oral contraceptives<\/li><li>Transfusion<ul><li>Humate-P\/Wilate (vWF\/FVIII replacement)<\/li><li>Platelet concentrates<\/li><li>rFVIIa<\/li><\/ul><\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_7\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Acquired vWD<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_7\">\n\n\n<p class=\"wp-block-paragraph\">Rare, typically the appearance of anti-vWF antibodies; can also appear in a variety of conditions such as aortic stenosis and cardic abnormalities, hypothyroidism.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Treatment of the underlying disease<\/li><li>rFVIIa<\/li><li>IVIG<\/li><li>Plasmapheresis<\/li><\/ul>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Classification<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Clinical presentation<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Diagnosis<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Specific tests<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Discriminating tests<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Treatment<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Acquired vWD<\/h4><\/div>","protected":false},"excerpt":{"rendered":"<p>In this disorder, there is either a reduced level or abnormal function of von Willebrand factor (vWF) resulting from a wide variety of mainly missense mutations in different parts of the gene. vWF (von-Willebrand factor), synthesized in the endothelium (and therefore is also exposed in endothelial damage) and in small quantity by megakaryocytes, is important [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":5575,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-5613","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>von Willebrand disease &#8211; 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