Korean J Pediatr.  2006 Aug;49(8):833-838. 10.3345/kjp.2006.49.8.833.

Giant platelet syndrome

• Kook H

• KMID: 1607308
• DOI: http://doi.org/10.3345/kjp.2006.49.8.833

Abstract

Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.

Keyword

Giant platelet syndrome; Idiopathic thrombocytopenia purpura; Macrothrombocytopenia

MeSH Terms

Bernard-Soulier Syndrome*
Blood Platelets
Diagnosis
Gray Platelet Syndrome
Thrombocytopenia
Transcription Factors
Transcription Factors