From the Guidelines
Hematology Assessment and Plan
The patient likely has a mild form of Von Willebrand disease based on the family history and laboratory results showing decreased Factor VIII activity, decreased Von Willebrand antigen levels, and decreased Ristocetin cofactor activity 1.
Key Findings and Recommendations
- The patient's laboratory results, including a factor 8 activity of 8%, VW Ag of a decreased level, and VW factor of a decreased level, are consistent with a diagnosis of Von Willebrand disease, specifically Type 1, given the decrease in VWF:RCo and VWF:Ag levels without a selective deficiency of high-molecular-weight VWF multimers 1.
- To confirm the diagnosis, further laboratory tests such as multimer analysis should be performed, as it can help determine the subtype of VWD and guide management decisions 1.
- Genetic testing may be considered to identify the specific mutation, which can be useful for family screening and genetic counseling 1.
- In terms of management, the patient should be advised to:
- Avoid non-steroidal anti-inflammatory drugs, which can exacerbate bleeding episodes.
- Consider using desmopressin, 0.3 mcg/kg intravenously, as needed for bleeding episodes, as it can increase VWF and factor VIII levels.
- Use preventative measures such as a soft-bristled toothbrush and electric razor to reduce the risk of bleeding.
- Avoid contact sports to minimize the risk of trauma and bleeding.
- Family screening is recommended, particularly for first-degree relatives, to identify other potential carriers of the disease, and genetic counseling should be offered to all family members 1.
- Regular follow-up with a hematologist is recommended to monitor the patient's condition and adjust the management plan as needed, including adjusting desmopressin dosing and frequency, and considering other treatments such as factor VIII and VWF concentrates if necessary 1.
From the Research
Hematology Assessment
The patient's presentation with mildly decreased Factor VIII (8) activity, decreased Von Willebrand antigen (VW Ag) levels, and decreased Ristocetin cofactor activity (VW factor) suggests a possible diagnosis of Von Willebrand disease (VWD) [ 2, 3, 4, 5, 6 ]. The following points are relevant to the hematology assessment:
- A personal history of bleeding symptoms, family history of bleeding or VWD, and confirmatory laboratory testing are required for diagnosis [ 2 ].
- Laboratory diagnosis requires measurement of von Willebrand factor (VWF) antigen levels, VWF platelet binding activity, and factor VIII (FVIII) activity [ 2, 3, 4, 5 ].
- Additional testing to confirm the specific subtype may include VWF collagen binding activity, low-dose ristocetin VWF-platelet binding, FVIII-VWF binding, VWF multimer analysis, and VWF propeptide antigen [ 2 ].
Plan
Based on the patient's presentation and laboratory results, the plan may include:
- Further laboratory testing to confirm the diagnosis and subtype of VWD [ 2, 3, 4, 5, 6 ].
- Use of bleeding assessment tools to objectively measure bleeding symptoms [ 2, 6 ].
- Genetic testing to establish the link between phenotype and genotype [ 3 ].
- Consideration of therapeutic options and monitoring [ 3, 6 ].