Von Willebrand Disease (Type 1)
The most likely diagnosis is Von Willebrand disease (VWD), given the persistent bleeding after circumcision combined with a positive family history affecting both males and females (brother and mother). 1
Key Diagnostic Reasoning
Why Von Willebrand Disease is Most Likely
VWD is the most common inherited bleeding disorder with a prevalence of 1 in 1,000 individuals, affecting both males and females equally due to its autosomal inheritance pattern 1, 2
Bleeding after circumcision is a classic presentation of VWD and represents one of the hallmark "classic bleeding symptoms" that should raise immediate suspicion 3, 1
The family history pattern is pathognomonic: The fact that both the mother and brother are affected strongly suggests autosomal dominant inheritance, which is characteristic of VWD Type 1, whereas hemophilia A would only affect males through X-linked inheritance 1, 4
Mucocutaneous bleeding is the predominant symptom in VWD, and circumcision bleeding fits this pattern perfectly 5, 4
Why Other Options Are Less Likely
Hemophilia A (Option A) is excluded because:
- Hemophilia A is X-linked recessive and would NOT affect the mother 3
- While the brother could be affected, the maternal involvement makes this diagnosis impossible
- The inheritance pattern described is incompatible with X-linked disorders 4
DIC (Option C) is excluded because:
- DIC requires an underlying trigger such as sepsis, trauma, or systemic illness 3
- DIC does not have a familial inheritance pattern
- The clinical presentation describes isolated bleeding without systemic illness 3
Platelet disorders (Option D) are less likely because:
- While platelet disorders can cause bleeding after circumcision, they are much rarer than VWD 3
- The family history pattern and specific presentation of post-circumcision bleeding more strongly suggests VWD 1
Critical Clinical Pearls
Standard coagulation tests (PT/aPTT) do NOT reliably detect VWD, so normal screening tests would not exclude this diagnosis 1, 5
Specific testing required for diagnosis includes VWF antigen, VWF activity (ristocetin cofactor), and factor VIII levels 1, 2
VWF is an acute phase reactant, meaning levels can be falsely elevated during stress or illness, requiring repeated testing for reliable results 1, 4
Immediate consultation with pediatric hematology is warranted due to the complexity of VWF diagnosis and need for specialized testing 1
Common Pitfalls to Avoid
Do not rely on family members self-reporting "no bleeding disorder" - many mild VWD cases go undiagnosed, and a detailed bleeding history questionnaire should be obtained from affected family members 3
Do not assume normal PT/aPTT rules out a bleeding disorder in this clinical scenario 1
Do not delay hematology consultation while waiting for initial test results, as specialized testing may need to be coordinated 1