Abstract

Background: Inherited platelet function disorders (IPFDs) are a wide spectrum of qualitative platelet disorders with variable bleeding tendency, ranging from mild bleeding to severe life-threatening episodes. Diagnosis and classification of IPFDs is a challenge worldwide. The present study aims to present a proper classification, describe the molecular basis and clinical presentations as well as some diagnostic clues for these disorders.
Methods: All relevant publications were searched using appropriate keywords.
Results: IPFDs can be divided into four major groups including defects of platelet surface glycoproteins, platelet granules and secretion disorders, platelet signaling defects, and transcription-related platelet disorders. Some of these disorders, such as Glanzman thrombasthenia, are more common, with severe bleeding, while most of these disorders are extremely rare with mild bleeding.
Conclusions: A proper classification, accompanied by familiarity with diagnostic clinical and laboratory features of IPFDs, can be helpful in in-time and exact diagnosis of these complicated bleeding disorders.

DOI: 10.7754/Clin.Lab.2016.160607