Giant platelet disorder

Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelet disorder occurs for inherited diseases like Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin anomaly.

Giant platelet disorders can be further categorized:^[1]

• caused by auto-immune disorders, i.e. Immune Thrombocytopenic Purpura (ITP) , characterized by low platelet count, but high MPV (Mean-Platelet Volume).^[2]
• Caused by glycoprotein abnormalities: Bernard-Soulier syndrome, Velocardiofacial syndrome
• Caused by calpain defect: Montreal platelet syndrome
• Caused by alpha granules defect: Gray platelet syndrome
• Characterized by abnormal neutrophil inclusions: May-Hegglin anomaly, Sebastian syndrome
• With systemic manifestations: Hereditary macrothrombocytopenia with hearing loss, Epstein syndrome, Fechtner syndrome
• With no specific abnormalities: Mediterranean macrothrombocytopenia
• Harris platelet syndrome

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