Differential Diagnosis for Recurrent Epistaxis and Easy Bruising
The patient's presentation of recurrent epistaxis, easy bruising, and laboratory findings suggest a bleeding disorder. The key findings include enlarged platelets on the peripheral blood smear and the absence of platelet agglutination on the ristocetin cofactor assay.
Single Most Likely Diagnosis
- A. Glycoprotein Ib deficiency (Bernard-Soulier syndrome): This condition is characterized by enlarged platelets, thrombocytopenia, and a deficiency in glycoprotein Ib, which is essential for platelet adhesion to von Willebrand factor. The lack of platelet agglutination in response to ristocetin, a drug that induces platelet agglutination by binding to von Willebrand factor, strongly supports this diagnosis.
Other Likely Diagnoses
- B. WASp deficiency (Wiskott-Aldrich syndrome): Although this condition also presents with bleeding and bruising, it typically includes eczema and recurrent infections, which are not mentioned in the scenario. However, it's a consideration due to the patient's symptoms of easy bruising and bleeding.
- E. Von Willebrand factor deficiency: This is the most common inherited bleeding disorder and could present with easy bruising and bleeding. However, the ristocetin cofactor assay result and the presence of enlarged platelets make Glycoprotein Ib deficiency more likely.
Do Not Miss Diagnoses
- D. Factor VIII deficiency (Hemophilia A): Although less likely given the patient's gender and the specific laboratory findings, it's crucial to consider and rule out hemophilia A, especially in cases of unexplained bleeding, due to its significant implications for management and treatment.
- C. Vitamin K deficiency: This condition can lead to bleeding due to deficiencies in vitamin K-dependent clotting factors. It's essential to consider, especially if there's a suspicion of malabsorption or dietary deficiency, but the specific platelet abnormalities point more towards a primary platelet disorder.
Rare Diagnoses
- F. ADAMTS13 deficiency: This deficiency leads to thrombotic thrombocytopenic purpura (TTP), characterized by thrombocytopenia, microangiopathic hemolytic anemia, renal failure, and neurological symptoms. The patient's presentation does not align closely with TTP, making this a less likely consideration.
- Other rare platelet disorders could also be considered, but the information provided points more strongly towards the diagnoses listed above.