A 12-year-old male presented with history of recurrent nose bleeds along with easy bruising with frequent formation of muscle hematomas and prolonged bleeding following tril trauma. On examination, ceain skin lesions were seen along with jaundice, splenomegaly, ahropathy, joint and skin laxity. Lab findings revealed, Normal PT Prolonged aPTT Reduced ristocetin cofactor activity Low factor VIII assay Normal platelet count and size Platelet granules are normal. What is the most probable diagnosis of the above condition: –
A 12-year-old male presented with history of recurrent nose bleeds along with easy bruising with frequent formation of muscle hematomas and prolonged bleeding following tril trauma. On examination, ceain skin lesions were seen along with jaundice, splenomegaly, ahropathy, joint and skin laxity. Lab findings revealed, Normal PT Prolonged aPTT Reduced ristocetin cofactor activity Low factor VIII assay Normal platelet count and size Platelet granules are normal. What is the most probable diagnosis of the above condition: –
π‘ Explanation
**Core Concept**
The underlying condition is a **bleeding disorder** characterized by prolonged **activated partial thromboplastin time (aPTT)**, normal **prothrombin time (PT)**, and reduced **ristocetin cofactor activity**, indicating a problem with **platelet function** or **coagulation factors** involved in the intrinsic pathway.
**Why the Correct Answer is Right**
The patient's symptoms, including recurrent nose bleeds, easy bruising, and prolonged bleeding after trauma, along with laboratory findings of prolonged aPTT, reduced ristocetin cofactor activity, and low factor VIII assay, suggest a diagnosis of **von Willebrand disease (vWD)**. vWD is a common inherited bleeding disorder caused by a deficiency or dysfunction of **von Willebrand factor (vWF)**, which is essential for **platelet adhesion** and **factor VIII stabilization**.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because the patient's symptoms and lab findings do not match those of other bleeding disorders.
**Option B:** This option is incorrect because the patient's normal PT and platelet count do not support this diagnosis.
**Option C:** This option is incorrect because the patient's reduced ristocetin cofactor activity and low factor VIII assay are characteristic of vWD.
**Clinical Pearl / High-Yield Fact**
vWD is often associated with **mucocutaneous bleeding** and **joint bleeding**, and patients may have a family history of bleeding disorders. The diagnosis can be confirmed by **vWF antigen** and **activity assays**.
**Correct Answer:** D. von Willebrand disease
β Correct Answer: A. vWF disease
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