๐Ÿงฌ Section 533.13 ยท Congenital Abnormalities of Platelet Function

Nelson Textbook of Pediatrics 22nd Edition | Inherited platelet function disorders: Bernard-Soulier syndrome (GPIb/IX/V deficiency, giant platelets, defective adhesion), Glanzmann thrombasthenia (GPIIb/IIIa deficiency, normal count, defective aggregation), storage pool defects (Hermansky-Pudlak, Chediak-Higashi, gray platelet syndrome), signaling defects (P2Y12, COX-1, TXA2 receptor). Treatment: desmopressin (DDAVP), antifibrinolytics (tranexamic acid), rFVIIa, platelet transfusions, HSCT for severe cases.

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๐Ÿ“‹ 30 Clinical Scenarios โ€” Congenital Platelet Function Disorders

๐Ÿ“‡ Highโ€‘Yield Review Cards (Platelet Function Disorders)

๐Ÿฉบ Clinical Recognition: Platelet Function Disorders

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๐Ÿ“‹ Stepwise Management of Platelet Function Disorders

๐Ÿ”‘ Key Principles โ€” Nelson Section 533.13
โ€ข Bernard-Soulier syndrome (GPIb/IX/V): Giant platelets, thrombocytopenia, absent ristocetin aggregation (normal with others). Treatment: platelet transfusion (risk of alloimmunization). Desmopressin ineffective.
โ€ข Glanzmann thrombasthenia (GPIIb/IIIa): Normal platelet count, absent aggregation to all agonists except ristocetin. Treatment: rFVIIa (first-line), platelet transfusion.
โ€ข Storage pool defects (dense granule, ฮฑ-granule): Hermansky-Pudlak (albinism, dense granule), Chediak-Higashi (partial albinism, infections), gray platelet syndrome (ฮฑ-granule deficiency, giant platelets). Treatment: desmopressin (DDAVP) + tranexamic acid; platelet transfusion for severe bleeding.
โ€ข Signaling defects (P2Y12, COX-1, TXA2 receptor): Mild bleeding, abnormal aggregation to specific agonists.
โ€ข General measures: Avoid aspirin/NSAIDs. Desmopressin (0.3 mcg/kg IV) and antifibrinolytics (tranexamic acid) for mild-moderate bleeding. rFVIIa (off-label) or platelet transfusion for severe bleeding.

    โšก Reflex Prompts โ€” Clinical Decisions in Platelet Function Disorders

    ๐Ÿ“– Summary: Congenital Platelet Function Disorders โ€” Nelson 533.13