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🌱 來自: Mechanisms and Etiologies of Platelet Function Abnormalities

Inherited Platelet Function Disorders

Defect Type	Name	Inheritance	Characteristics
Adhesion	Bernard-Soulier	AR	Defective GPIb-IX-V complex
	DiGeorge Syndrome	22q11.2 deletion,	reduced and large platelets, multiple abnormalities
Aggregation	Glanzmann	AR	Reduced or qualitative defect in GPIIb/IIIA
Granule	Chediak-Higashi	AR	Reduced δ-granules, immunodeficiency
	Hermansky-Pudlak	AR	Reduced δ-granules, oculocutaneous albinism

Platelet disorders [9] Platelet deficiency (see “Etiology” in “Thrombocytopenia”) Platelet dysfunction (thrombocytopathy): disorders that lead to dysfunctional adhesion or aggregation of platelets Inherited Von Willebrand disease Bernard-Soulier syndrome Glanzmann thrombasthenia Acquired Drug-induced: e.g., aspirin, NSAID, clopidogrel Immune thrombocytopenic purpura Chronic kidney disease Cardiopulmonary bypass [10] See also ”Differential diagnosis of platelet disorders.” Disorders affecting the vessel wall Vascular hemorrhagic diathesis (e.g., IgA vasculitis, hereditary hemorrhagic telangiectasia) Thrombotic microangiopathy (e.g., HUS and TTP) Conditions with impaired collagen synthesis (e.g., scurvy, Ehlers-Danlos syndrome) Pathophysiology Typical presentation Peripheral smear