Episode 069: Heme Consults Series: Von Willebrand Disease, Part 1
Aug 16, 2023
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This podcast episode discusses Von Willebrand disease, including how to evaluate suspected cases, differentiate subtypes, and the tests to order for diagnosis. It explores the role of Von Willebrand factor in hemostasis and provides an overview of different subtypes and lab results. The desmopressin challenge is also discussed.
Von Willebrand Disease is the most common inherited bleeding disorder, categorized into quantitative (type 1 and 3) and qualitative (type 2) disorders.
Diagnosis of Von Willebrand's Disease requires a panel of tests, including Von Willebrand factor antigen, functional testing, factor 8 activity, and a type-in screen.
Deep dives
Overview of Von Willebrand's Disease
Von Willebrand's Disease is the most common inherited bleeding disorder, with an estimated prevalence of 1 in 1,000 people. It is characterized by a deficiency or abnormality of Von Willebrand factor, a glycoprotein that plays a crucial role in hemostasis. The disease is categorized into different subtypes, with type 1 being the most common, followed by type 2 and type 3. Type 1 and type 3 are quantitative disorders, where there is a decrease or absence of Von Willebrand factor, while type 2 is a qualitative disorder. Diagnosis of Von Willebrand's Disease requires both abnormal levels of Von Willebrand factor and bleeding symptoms.
Diagnostic Testing for Von Willebrand's Disease
To diagnose Von Willebrand's Disease, a panel of tests is typically performed, including Von Willebrand factor antigen, Von Willebrand factor functional testing, factor 8 activity, and a type-in screen. These tests help determine the quantity and functionality of Von Willebrand factor in the patient's blood. A thorough bleeding history assessment is also important in the diagnostic process. In some cases, a desmopressin challenge test may be conducted to assess the patient's response to desmopressin, a drug that can augment Von Willebrand factor levels. This test is particularly useful for patients diagnosed with type 1 Von Willebrand's Disease.
Clinical Implications and Management
The management of Von Willebrand's Disease depends on the severity of the disease and the presence of bleeding symptoms. Patients with mild deficiency or borderline levels of Von Willebrand factor may not require treatment, while those with more severe deficiency may benefit from desmopressin administration or other treatment options, such as anti-fibrinolytic agents. Regular monitoring and follow-up are essential to assess the patient's response to treatment and manage any bleeding episodes effectively. Genetic counseling may also be recommended for individuals with Von Willebrand's Disease, as it has an autosomal dominant or recessive inheritance pattern.
We resume our hematological consultation series with an overview of von Willebrand disease, the most common inherited bleeding disorder. In this episode, we talk about the initial steps we should take to evaluate suspected von Willebrand disease (vWD) and how to differentiate the various subtypes. We will focus on vWD type 1 and 3! Be sure to tune in next week as we discuss vWD type 2 and management.
Content:
- Taking a bleeding history
- What is von Willebrand factor?
- What tests should we order for diagnosis?
- What are the different types of vWD?
- What is the DDAVP challenge?
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