Posts Tagged ‘vWD’

Impact-R and Heyde Syndrome

Thursday, December 29th, 2011

This is a case of a 79-year old man with severe aortic stenosis and recurrent GI bleeding. This case study by Schmid, et.al. proposes that Impact-R to determine platelet function may be more time- and cost-effective compared to electrophoretic analysis of vWF multimers.

Severe aortic stenosis with bleeding diathesis is also known as Heyde syndrome. The pathophysiology: loss of high molecular weight vWF multimers in high shear stress conditions leads to a platelet type von Willebrand disease (acquired vWD, vWD type 2B) which can explain the bleeding tendencies of a patient with severe aortic stenosis.

 

Impact-R in the Evaluation of von Willebrand Disease

Saturday, December 10th, 2011

Impact-R CPA test can be a useful screening test for von Willebrand Disease.

Von Willebrand Disease or vWD is the most common hereditary bleeding disorder. It is caused by a deficiency in the von Willebrand Factor (vWF).  VWF has two main functions in the coagulation cascade: 1) it is the major adhesion molecule that anchors the platelets to the exposed subendothelium, and 2) it is the binding protein for Factor VIII (FVIII). The clinical manifestations of vWD is due to its effect on platelet function.

Patients with vWD present mostly with mucosal bleeding and sometimes with post-operative bleeding.  Signs and symptoms include: bruising in uncommon areas of the body, prolonged epistaxis, heavy menstrual bleeding or menorrhagia, prolonged bleeding at dental extraction sites, or during tonsillectomies.

VWD has 3 major types (Type 1, 2, and 3) with Type 2 having 4 subtypes (Type 2A, 2B, 2M, and 2N). The most common is Type 1. The following table compares the Activated Partial Thromboplastin Time (aPTT), vWF antigen, vWF activity, and FVIII activity of the different types.

Type aPTT vWF antigen vWF activity FVIII activity
1 Normal or Increased Decreased Decreased Decreased
2A Normal or Increased Decreased Decreased Decreased
2B Normal or Increased Decreased Decreased Decreased
2M Normal or Increased Decreased Decreased Decreased
2N Increased Normal or Decreased Normal or Decreased Decreased
3 Increased Decreased Decreased Decreased

Von Willebrand factor replacement is the definitive therapy for vWD especially as prophylaxis for major procedures to reduce the risk of post-operative bleeding. For minor procedures and for mild Type 1 vWD treatment of choice is 1-deamino-8-D-arginine vasopressin (DDAVP or desmopressin) which causes the release of vWF and FVIII from endothelial stores. It can be given intravenously or by an intranasal spray.

Diagnosis is done by careful history and physical exam with a combination of several laboratory tests such as aPTT, ristocetin cofactor assay, collagen binding activity multimer assays. A useful screening test to determine decreased platelet function is the IMPACT-R Cone and Platelet Analyzer (CPA) which tests platelet adhesion and aggregation in anti-coagulated whole blood under arterial flow conditions. This test is qualitative compared to the merely quantitative platelet count.

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