Update on Molecular Testing in von Willebrand Disease

Area of Science:

• Hematology
• Clinical Genetics
• Molecular Diagnostics

Background:

• Diagnosis of von Willebrand disease (VWD) relies on bleeding history and laboratory tests.
• Existing phenotypic tests for VWD are prone to errors, potentially affecting diagnostic accuracy.
• Despite advances in understanding the von Willebrand factor gene (VWF), molecular diagnosis in VWD remains debated.

Purpose of the Study:

• To discuss the advantages and disadvantages of molecular testing in von Willebrand disease (VWD) diagnosis.
• To evaluate the role of genetic testing in VWD, considering new methodologies.
• To analyze findings from the multicenter project 'Molecular and Clinical Profile of VWD in Spain (PCM-EVW-ES)'.

Main Methods:

• Review of current diagnostic approaches for VWD, including phenotypic and molecular testing.
• Analysis of the complexity and cost-effectiveness of conventional molecular analyses.
• Consideration of new genetic methodologies and their potential implementation in VWD diagnosis.

Main Results:

• Phenotypic tests for VWD have inherent sources of error.
• Molecular testing for VWD is complex and costly, leading to recommendations for limited use in specific cases (e.g., differentiating VWD types and hemophilia A).
• There is reluctance to adopt new genetic diagnostic approaches for VWD despite their availability.

Conclusions:

• The utility of molecular testing in VWD diagnosis is still under discussion.
• The experience from the 'Molecular and Clinical Profile of VWD in Spain' project provides insights into the pros and cons of genetic testing.
• Further evaluation is needed to integrate advanced genetic methodologies into routine VWD diagnostics.