Inherited platelet function disorders: a comprehensive narrative review focusing on diagnostic and management aspects

This is the authors' abstract. We don't add key points for this paper.

Qualitative and quantitative inherited platelet disorders (IPDs) are a heterogeneous group of rare bleeding conditions caused by inherited variants in genes that affect platelet production and function. Clinically, IPDs are characterized by significant phenotypic heterogeneity, ranging from mild mucocutaneous bleeding to severe hemorrhagic complications. In some cases, they are associated with additional systemic features, including syndromic abnormalities, or an increased predisposition to hematological malignancies. Over the past decade, the rapid implementation of next-generation sequencing technologies has transformed the field, enabling the identification of a growing number of genes involved in platelet formation and function. These advances have revealed the unexpected molecular complexity underlying platelet disorders and significantly improved the ability to establish genotype–phenotype correlations. Despite these advances, the diagnosis of IPDs remains challenging in routine clinical practice. An approach combining clinical evaluation, advanced platelet function testing and comprehensive genomic analysis is increasingly recognized as essential for accurate diagnosis and optimal patient management. IPDs treatment is challenging too, since there are few robust therapy choices. Although promising results emerge from experimental therapies, right now therapies consist of conservative measures, platelet concentrates, tranexamic acid and recombinant activated factor VII. Aim of this narrative review is to provide a comprehensive overview of IPDs characterized primarily by platelet dysfunction.