What is the likely diagnosis of an infant with persistent bleeding 12 hours after circumcision, with a family history of bleeding disorders, including a mother and relative with a bleeding disorder?

Diagnosis: Von Willebrand Disease (vWF)

The most likely diagnosis is von Willebrand disease (vWF), given the maternal transmission pattern and persistent bleeding after circumcision in this infant. 1, 2

Key Diagnostic Reasoning

Why vWF is Most Likely

• Maternal inheritance pattern: The critical clue is that the mother has a bleeding disorder. Hemophilia A is X-linked recessive and mothers are typically asymptomatic carriers, not affected individuals with bleeding symptoms 3, 4

• vWF is the most common inherited bleeding disorder with a prevalence of 1 in 1,000 people and affects both males and females equally 2, 3

• Post-circumcision bleeding is a classic presentation: Significant bleeding after circumcision is specifically noted as a symptom suggestive of bleeding disorders, and vWF commonly presents with mucocutaneous bleeding 1, 2

Why NOT Hemophilia A

• Inheritance pattern doesn't fit: Hemophilia A is X-linked recessive. If the mother had hemophilia A (not just carrier status), she would need to be homozygous or have Turner syndrome, which is extremely rare 3

• Mothers of hemophiliacs are carriers: They typically don't have bleeding symptoms themselves, though carriers can have reduced factor VIII levels (30-50%) and mild symptoms 3

• The question states the mother HAS a bleeding disorder: This strongly suggests an autosomal dominant condition like vWF, not X-linked hemophilia 2, 3

Why NOT the Other Options

• Platelet function disorders: While possible, these are much rarer than vWF and less likely to present with this specific family pattern 1, 2

• DIC: This is an acquired condition, not inherited, and would present with systemic illness, not isolated post-circumcision bleeding in an otherwise well infant 1, 2

Clinical Pearls

• vWF is NOT reliably detected by standard PT/aPTT screening: This is a common pitfall—normal coagulation studies don't rule out vWF 1, 2

• Testing requires specific von Willebrand factor assays: Including vWF antigen, vWF activity (ristocetin cofactor), and factor VIII levels 1

• von Willebrand factor is an acute phase reactant: Levels can be falsely elevated during stress or illness, and testing may need to be repeated up to 3 times for reliable results 1

• Consultation with pediatric hematology is warranted: Given the complexity of vWF diagnosis and the need for specialized testing 1, 2