What question did this study set out to answer?

To evaluate the diagnostic utility of multimeric and molecular genetic testing in classifying rare qualitative von Willebrand disease variants following inconclusive preliminary laboratory results.

July 14, 2020Platelets

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

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Why the study?

Identification of qualitative variants of von Willebrand disease is challenging due to discrepant results across multiple available laboratory tests.

Population

Two cases of infrequent inherited variants of VWD with unclear preliminary results

Design

Case report

Authors

AMAna Belén Moreno‐CastañoDepartament de Salut ÁRÁlex RamosDepartament de Salut MPMarcos PinoHospital Clínic de Barcelona

Discussion

Member takes

Implication

May aid precise VWD subtyping in complex cases; leaves open validation in larger cohorts.

Key Points

To evaluate the diagnostic utility of multimeric and molecular genetic testing in classifying rare qualitative von Willebrand disease variants following inconclusive preliminary laboratory results.
Evaluated clinical, functional, and laboratory profiles of two patients (N=2) presenting with suspected qualitative von Willebrand disease variants.
Conducted specialized von Willebrand factor multimeric assays and familial molecular genetic sequencing to resolve discrepancies from baseline functional tests.
Diagnosed von Willebrand disease type 2A/IID in the first patient, identified by the missense mutation c.8318 G > C (p.Cys2773Ser).
Diagnosed von Willebrand disease type 2M in the second patient, confirmed by the c.4225 T > G (p.Val1409Phe) mutation.
Multimeric profiling combined with family genetic studies successfully established definitive variant classification where routine functional panels failed.

Structured PICO

Population

2 cases of infrequent inherited variants of von Willebrand disease (VWD) with unclear preliminary results

Intervention

Multimeric analysis and genetic family studies

Outcome

Final diagnosis and classification of VWD variant

Multimeric and molecular analyses are essential for accurately diagnosing and classifying complex qualitative variants of von Willebrand disease.

Cite This Study

Moreno‐Castaño et al. (2020) studied this question.

synapsesocial.com/papers/6a968c7b555aebb9fcbb7a13 https://doi.org/10.1080/09537104.2020.1784403

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Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

Also Consider