Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

Research output: Contribution to journalArticle


Background:Distinguishing inherited thrombocytopenias from immune thrombocytopenia (ITP) can be difficult, and patients are therefore at risk of misdiagnosis and inappropriate treatments. Although it is known that the most common inherited forms of thrombocytopenia are characterized by increased platelet size, the diagnostic power of this feature has never been investigated. Objectives:The aim of this study was to test the hypothesis that platelet size can be used to differentiate ITP from inherited macrothrombocytopenias. Patients/methods:We measured mean platelet volume (MPV) and mean platelet diameter (MPD), within 2h of blood sampling, in 35 patients with inherited macrothrombocytopenias [15 MYH9-related disease (MYH9-RD), three biallelic and 17 monoallelic Bernard-Soulier syndrome (BSS)], and 56 with ITP. Using receiving operating characteristic analysis, we searched for the best cut-off values to differentiate between these conditions. Results:As expected, platelets were larger in inherited macrothrombocytopenias than in ITP. An MPD larger than 3.3μm differentiated MYH9-RD and BSS from ITP with 0.89 sensitivity and 0.88 specificity, and an MPV larger than 12.4fL had 0.83 sensitivity and 0.89 specificity. Combining MPD with MPV increased sensitivity and specificity to 0.97 and 0.89, respectively. Conclusion:Platelet size evaluation by both an appropriate cell counter and blood film examination is useful for differentiating inherited macrothrombocytopenias from ITP.

Original languageEnglish
Pages (from-to)2131-2136
Number of pages6
JournalJournal of Thrombosis and Haemostasis
Issue number12
Publication statusPublished - Dec 2009


  • Immune thrombocytopenia
  • Inherited macrothrombocytopenias
  • Mean platelet volume
  • Platelet diameter
  • Platelet size

ASJC Scopus subject areas

  • Medicine(all)
  • Hematology

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