INHERITED PLATELET DISORDERS
Keywords:
hereditary thrombocytopenia, platelets, congenital thrombocytopenia, congenital platelet defects.Abstract
Introduction: Platelets play an important role in the process of hemostasis and numerical abnormalities (thrombocytopenia) or qualitative (thrombocytopathy) platelet lead to spontaneous bleeding, prolonged bleeding time, mucocutaneous, urinary and gastrointestinal bleeding. Most platelet changes have clinical manifestations during childhood, but some of them are diagnose at an older age. When thrombocytopenia or thrombocytopathy is diagnosed, the congenital form must be distinguished from acquired forms. The congenital form may be an isolated disease or be part of a syndrome. Once established that the disorder is inherite, the legacy mode is useful in the differential diagnosis. Objective: Aim to review pathogenic mechanisms related to congenital platelet defects. To the therapy for episodes of severe bleeding, platelet transfusion is the treatment of choice. Others treatments include the use of desmopressin, and in severe cases splenectomy and transplantation of hematopoietic stem cells. Methods: The review was conducte by bibliographic database obtained through direct research, MEDLINE, PUBMED and LILACS-BIREME; being selecte published articles addressing the congenital abnormalities of platelets. Conclusion: Birth defects involving platelets lead to spontaneous or prolonged bleeding cutaneous, mucocutaneous and gastrointestinal and urinary. Genetic platelet defects involve the number, function, or both. Since these defects are congenital and hereditary, children are the predominant patients. In severe cases, the treatment of choice is the transplantation of hematopoietic stem cells.
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