Inherited Platelet Disorders: Diagnosis and Management.

摘要: Inherited platelet disorders are rare but they can have considerable clinical impacts, and studies of their causes advanced understanding formation function. Effective hemostasis requires adequate circulating numbers functional platelets. Quantitative, qualitative combined with a bleeding phenotype been linked to defects in cytoskeletal elements, cell surface receptors, signal transduction pathways, secretory granules other aspects. variable presentations, diagnosis management is often challenging. Evaluation begins detailed patient family histories, including score. The physical exam identifies potential syndromic features inherited rules out causes. Laboratory investigations include complete blood count, film, coagulation testing Von Willebrand factor assessment. A suspected function disorder further assessed by aggregation, flow cytometry, dense granule release and/or content, genetic testing. aims minimize the risk achieve when needed. Although not universal, transfusion remains crucial component many disorders.