A patient presents with recurrent episodes of spontaneous bleeding into the joints and muscles. The patient has a known family history of a similar condition, primarily affecting male family members. Which inherited bleeding disorder is most consistent with this patient’s symptoms?
Group of answer choices
- Thrombotic Thrombocytopenic Purpura
- Disseminated intravascular coagulation
- Hemophilia A
- von Willebrand Disease
The correct answer is: Hemophilia A
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Explanation:
The patient’s presentation—recurrent spontaneous bleeding into joints (hemarthrosis) and muscles, along with a family history affecting primarily males—is classic for:
- Hemophilia A (Factor VIII deficiency), an X-linked recessive disorder (thus predominantly affects males).
Key Features of Hemophilia A:
- Prolonged aPTT (normal PT and platelet count).
- Severity correlates with Factor VIII levels:
- Severe (<1% activity): Spontaneous bleeding.
- Moderate (1-5%): Bleeding after minor trauma.
- Mild (5-40%): Bleeding only after surgery/major injury.
Why Not the Others?
- Thrombotic Thrombocytopenic Purpura (TTP): Causes thrombocytopenia + microangiopathic hemolysis, not joint/muscle bleeding.
- Disseminated Intravascular Coagulation (DIC): Acquired condition with diffuse thrombosis/bleeding, not hereditary.
- von Willebrand Disease (vWD): Causes mucocutaneous bleeding (e.g., epistaxis, menorrhagia) but rarely hemarthrosis (unless severe Type 3).
Diagnostic Confirmation:
- Low Factor VIII activity with normal vWF levels.
Thus, Hemophilia A is the most likely diagnosis.
