Von Willebrand Disease (Type 1)
The most likely diagnosis is Von Willebrand disease (VWD), specifically Type 1, given the persistent post-circumcision bleeding, positive family history affecting both males and females (brother and mother), and the autosomal inheritance pattern. 1
Why Von Willebrand Disease is the Answer
VWD is the most common inherited bleeding disorder with a prevalence of 1 in 1,000 people and affects both males and females equally, making it statistically the most likely diagnosis in this clinical scenario 1
Bleeding after circumcision is a classic hallmark presentation of VWD and represents one of the pathognomonic "classic bleeding symptoms" that should immediately raise suspicion for this disorder 1
The maternal inheritance pattern is the key diagnostic clue - the fact that both the mother and brother are affected indicates an autosomal dominant or recessive pattern, which is characteristic of VWD 1
Why NOT the Other Options
Hemophilia A is Excluded:
- Hemophilia A is X-linked recessive and would not affect females - the maternal involvement makes this diagnosis impossible 1
- While one case report describes hemophilia A presenting with post-circumcision bleeding, that patient had no family history, whereas this patient's mother is affected 2
DIC is Excluded:
- DIC requires an underlying trigger such as sepsis, trauma, or systemic illness and does not have a familial inheritance pattern 1
- This newborn lacks any systemic illness or trigger for DIC
Platelet Disorders are Less Likely:
- Platelet disorders are much rarer than VWD, and the specific family history pattern with post-circumcision bleeding more strongly suggests VWD 1
- The autosomal inheritance affecting multiple family members across genders is more consistent with VWD than rare platelet disorders
Critical Diagnostic Pitfalls to Avoid
Normal PT/aPTT does NOT rule out VWD - VWD is not reliably detected by standard coagulation screening tests 1, 3
Specific testing is required: VWF antigen, VWF activity (ristocetin cofactor), and factor VIII levels are necessary for diagnosis 1, 4
VWF is an acute phase reactant - levels can be falsely elevated during stress or illness in the newborn period, requiring repeated testing for reliable results 1
Consultation with pediatric hematology is warranted due to the complexity of VWD diagnosis and need for specialized testing 1
Next Steps in Management
Obtain specific VWF assays: VWF antigen, VWF activity (ristocetin cofactor activity), and factor VIII coagulant activity levels 1, 4
For immediate bleeding control, desmopressin acetate (DDAVP) is indicated for Type 1 VWD with factor VIII levels greater than 5%, administered 30 minutes prior to procedures or for spontaneous bleeding episodes 5
Obtain detailed bleeding history from the mother and brother using a structured bleeding assessment questionnaire to confirm the diagnosis and assess severity 1, 4