What is the most likely diagnosis for a newborn male with persistent bleeding after circumcision, a positive family history of a bleeding disorder affecting his brother and mother, and no laboratory results available?

Von Willebrand Disease

The most likely diagnosis is Von Willebrand disease (VWD), given the family history affecting both the mother and brother, combined with persistent bleeding after circumcision. 1

Diagnostic Reasoning

Family History Pattern is Decisive

• VWD is the most common inherited bleeding disorder (prevalence 1 in 1,000) and affects both males and females equally, making it the only diagnosis that explains maternal involvement. 1
• The autosomal inheritance pattern affecting both the mother and brother definitively excludes hemophilia A, which is X-linked recessive and would not affect females. 1
• Bleeding after circumcision is a classic presentation of VWD and represents one of the hallmark "classic bleeding symptoms" that should raise immediate suspicion. 2, 1

Why Other Diagnoses Are Excluded

Hemophilia A (Option A):

• Impossible diagnosis given maternal involvement—hemophilia A is X-linked recessive and does not affect females. 1
• While hemophilia A can present with post-circumcision bleeding 3, 4, 5, the family history pattern makes this diagnosis incompatible with the clinical scenario.

DIC (Option C):

• Requires an underlying trigger such as sepsis, trauma, or systemic illness. 1
• Does not have a familial inheritance pattern. 1
• The newborn would appear systemically ill, which is not described in this scenario.

Platelet Disorders (Option D):

• Much rarer than VWD. 1
• The family history pattern and specific presentation of post-circumcision bleeding more strongly suggest VWD. 1

Critical Clinical Pearls

Diagnostic Testing Limitations

• Standard PT/aPTT screening does not reliably detect VWD, and normal coagulation studies do not rule it out. 1
• Specific von Willebrand factor assays are required: 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, requiring repeated testing for reliable results. 1

Immediate Management Approach

• Consultation with pediatric hematology is warranted due to the complexity of VWD diagnosis and the need for specialized testing. 1
• A detailed bleeding history questionnaire should be obtained from affected family members, as many mild VWD cases go undiagnosed. 1

Common Pitfalls to Avoid

• Do not assume normal screening coagulation tests exclude VWD—specific factor assays are mandatory. 1
• Do not dismiss the diagnosis based on lack of prior bleeding episodes in the newborn—circumcision may be the first hemostatic challenge. 2
• Recognize that significant bleeding after circumcision increases the possibility of a bleeding disorder and mandates evaluation. 2