Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Giant platelet disorder
Introduction
Overview
Overview
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.
Classification
Classification
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
Signs and symptoms
Signs and symptoms
References
References
- ↑ Mhawech, Paulette; Saleem, Abdus (2000). “Inherited Giant Platelet Disorders”. American Journal of Clinical Pathology. 113 (2): 176–90. doi:10.1309/FC4H-LM5V-VCW8-DNJU. PMID 10664620.
- ↑ Platelet Disorders Overview of Platelet Disorders at eMedicine
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]