Reviews
Vol. 5 No. 4 (2026)
Inherited platelet function disorders: a comprehensive narrative review focusing on diagnostic and management aspects
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 21 October 2026
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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.
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Ethics Approval
Not applicable. Ethical approval was not required for this narrative review because no human participants, patient data, animal subjects, or identifiable information were involved.CRediT authorship contribution
AF, CG, AS, AI, BMR, GA, GC, MM, ML, NP and TM contributed to the conceptualization and writing of the original draft, as well as to the review and editing of successive versions of the manuscript. CS provided critical revision of the manuscript for important intellectual content and approved the final version for publication. RCS coordinated review and editing.
Data Availability Statement
The data underlying this article are available from the corresponding author upon reasonable request.
How to Cite
1.
Ferretti A, Portesi N, Gorio C, Leotta M, Strangio A, Ierardi A, et al. Inherited platelet function disorders: a comprehensive narrative review focusing on diagnostic and management aspects. Bleeding Thromb Vasc Biol [Internet]. 2026 Oct. 21 [cited 2026 Oct. 22];5(4). Available from: https://www.btvb.org/btvb/article/view/581
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