A 20-year-old female presented with complaints of easy bruising, frequent episodes of nose bleed, menorrhagia and few episodes of upper GI bleed also. On examination, purpura and petechial rash were noted. Lab findings revealed, Thrombocytopenia PT- normal aPTT- normal Platelets do not aggregate in response to ristocetin after adding normal plasma Platelets have normal aggregation in response to adenosine diphosphate, epinephrine, and collagen. Normal platelet granules What is the most likely diagnosis in the above patient: –
Correct Answer: Bernard-soulier syndrome
Description: Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and qualitative platelet defects resulting in bleeding tendency. Peripheral smear of patient with Bernard-Soulier syndrome (BSS) showing giant platelets. These platelets are not counted as platelets in most paicle counters. Symptoms of BSS may include the following: Easy bruising Nosebleeds Menorrhagia Gastrointestinal bleeding (occasional) Physical findings may include the following: Increased bruising Purpura and petechial rash Wiskott-aldrich syndrome is rules out because of lack of history of eczema and it has small platelets. Glanzmann thrombasthenia shows no platelet aggregation in response to adenosine diphosphate, epinephrine, and collagen.
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