Congenital Platelet Disorders

Congenital platelet disorders are a group of diseases that have a low prevalence rate in general population; however, some diseases have autosomal dominant (AD) inherence pattern. These diseases may present in the first few days in newborns but may only present later in life as mild mucocutaneous bleeding. Life-threatening bleeding can occur in some severe cases. The pathogenesis includes, but not limited to, abnormalities in the platelet cell membrane receptor (Bernard-Soulier syndrome and Glanzmann’s disease), an abnormality in the platelet dense or alpha granules or lysozyme (Gray platelet syndrome, Chediak-Higashi syndrome, and Hermansky-Pudlak syndrome), or secondary to gene mutation. The diagnosis requires careful review of the family history, bleeding history, complete blood count, platelet aggregation studies, and molecular studies. The management is mainly prevention by educating the patient and parents to avoid possible accidences and trauma with bleeding risk. In case of moderate to severe bleeding, hemostatic measures including platelet transfusion may be warranted. Additionally, hematopoietic stem cell transplantation may be useful in some cases.