Combined occurrence of von Willebrand's disease and factor XIII deficiency: a case report

Area of Science:

• Hematology
• Pediatric Medicine
• Rare Diseases

Background:

• Von Willebrand's disease and factor XIII deficiency are distinct bleeding disorders.
• Combined occurrence is exceptionally rare, with limited documented cases.
• Bleeding symptoms can vary in severity and presentation.

Observation:

• A 3-year-old female presented with a history of prolonged bleeding after minor injuries.
• Clot solubility test using 5M urea was positive, indicating FXIII deficiency.
• Platelet aggregation studies showed reduced ristocetin-induced aggregation, correctable with normal plasma, consistent with VWD.

Findings:

• The patient exhibited a rare co-occurrence of VWD and FXIII deficiency.
• Clinical presentation included significant bleeding tendencies.
• Diagnostic workup confirmed the specific hematological abnormalities associated with both conditions.

Implications:

• This case underscores the importance of comprehensive diagnostic evaluation in pediatric bleeding disorders.
• Understanding rare combined hemostatic defects can improve patient management and genetic counseling.
• Further research into the pathophysiology and management of co-occurring VWD and FXIII deficiency is warranted.