What is Von Willebrand (Von Willebrand disease) disease?

From the Guidelines

Von Willebrand disease (VWD) is a bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), a protein that plays a crucial role in blood clotting and platelet adhesion [ 1 ].

Key Characteristics

• VWD is classified into three main types: Type 1 (partial quantitative deficiency), Type 2 (qualitative deficiency), and Type 3 (virtually complete quantitative deficiency) [ 1 ].
• Symptoms of VWD can range from mild to severe and include easy bruising, nosebleeds, and heavy menstrual bleeding in women [ 1 ].
• Type 1 VWD is the most common, accounting for approximately 75% of symptomatic cases, while Type 3 VWD is rare, affecting only about 1 person in 1,000 [ 1 ].

Clinical Implications

• Patients with VWD may be at risk of bleeding following surgery, invasive procedures, traumatic injury, or childbirth [ 1 ].
• Accurate diagnosis and laboratory testing are essential for managing VWD, taking into account factors such as blood sample processing, patient stress levels, and inflammatory illnesses [ 1 ].
• Laboratory testing for VWD should be performed using calibrated assays and referenced to the World Health Organization (WHO) plasma standard [ 1 ].

From the Research

Definition and Overview of Von Willebrand Disease

• Von Willebrand disease (VWD) is a bleeding disorder characterized by a deficiency or defect of von Willebrand factor (VWF), a protein that plays a critical role in blood clotting 2, 3, 4, 5, 6.
• It is the most common inherited bleeding disorder, with an estimated prevalence of ~1% and clinically relevant bleeding symptoms in approximately 1:10,000 individuals 6.
• VWD can cause a range of bleeding symptoms, including mucocutaneous bleeding, hematomas, and bleeding after trauma or surgery 6.

Types of Von Willebrand Disease

• There are three main types of VWD: type 1, type 2, and type 3 4, 5.
• Type 1 VWD is a quantitative deficiency of VWF, while type 2 VWD is a qualitative defect of VWF 4.
• Type 3 VWD is a severe deficiency of VWF, often resulting in significant bleeding symptoms 4.

Diagnosis and Treatment of Von Willebrand Disease

• Diagnosis of VWD requires a combination of personal and family history of bleeding, as well as abnormal VWF laboratory testing 5.
• Treatment options for VWD include desmopressin, replacement therapy with plasma-derived concentrates containing VWF and Factor VIII (FVIII), and recombinant VWF concentrate 2, 5, 6.
• The choice of treatment depends on the type and severity of VWD, as well as the individual patient's needs 5, 6.

Management and Complications of Von Willebrand Disease

• Orthopaedic surgery in patients with VWD can be challenging due to the risk of bleeding complications 2.
• The use of anticoagulant prophylaxis to prevent venous thromboembolism can also increase the risk of bleeding in patients with VWD 2.
• Early diagnosis and treatment of VWD are critical to preventing long-term complications and improving quality of life for patients with the disease 5, 6.