Summary
Platelets, small circulating anucleate cells, play an essential role in the proper initiation of hemostasis. A defect in any of the steps that orchestrate the interaction of platelets with the vessel wall and regulate platelet activation leads to impaired clot formation and results in abnormal bleeding. Inherited platelet disorders are a heterogeneous group of rare diseases that can be characterized not only by impaired platelet function but also by reduced platelet counts. Their true prevalence may be underestimated because severe disorders are relatively easy to diagnose but are rare, while milder disorders are more difficult to characterize and are likely to be more common than previously thought. The purpose of this review is to discuss the best known methods used in the investigation of patients with suspected hereditary platelet dysfunction.
Research material and methods. Literature review was performed in PubMed, ScienceDirect, ResearchGate and Google Scholar databases.
Conclusions. The evaluation and confirmation of a possible platelet-derived bleeding disorder ranges from using the International Society of Thrombosis and Haemostasis- approved bleeding assessment tool, initial tests such as a simple general hematological examination, to complex genetic tests. And although some of the tests recommended for diagnosis are performed only in some specialized laboratories or still require standardization and more detailed tests in differentiating disorders, the results of all of them contribute to the description of the manifestation of the platelet function defect and the formulation of the final diagnosis.
