Practice patterns in the diagnosis of inherited platelet disorders within a single institution

Juliana Perez Botero, Rajiv K. Pruthi, Julie A. Majerus, Lea M. Coon, Cindy B. Uhl, Dong Chen, Mrinal M. Patnaik

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


The diagnosis of inherited platelet disorders (IPDs) is challenging with variable diagnostic practices existing between institutions. To determine patterns and utility of diagnostic testing practices for IPDs within a single institution, a retrospective cohort study was performed. Records of 50 patients (50% women), median age 32 years (1 day to 81 years) were analyzed. In total, 28 (53%) had a positive International Society of Thrombosis and Hemostasis Bleeding Assessment Tool score. Test-ordering patterns were highly variable. All patients had platelet morphology analysis by light microscopy. In total, 42 (84%) underwent light transmission aggregometry, 43 (86%) platelet function analyzer, 37 (74%) platelet electron microscopy, 25 (50%) flow cytometry, and 15 (30%) genetic testing. Platelet function analyzer and light transmission aggregometry were always used as first-order tests, followed by platelet transmission electron microscopy and flow cytometry (81 and 84%, respectively). Genetic testing was obtained up front in five cases (33% of orders), mostly in patients with syndromic thrombocytopenia or in the setting of a known genetic disorder. Test-ordering practices did not adhere to published algorithms. Even within a single institution, great heterogeneity exists in the testing approach to IPDs. Although, a large proportion of cases were studied with platelet transmission electron microscopy and flow cytometry, standard platelet assays established the diagnosis in a great majority. Standardization of testing practices, first beginning at the institutional level is a much needed step forward.

Original languageEnglish (US)
Pages (from-to)303-308
Number of pages6
JournalBlood Coagulation and Fibrinolysis
Issue number4
StatePublished - Jun 1 2017


  • blood platelet disorders
  • electron microscopy
  • flow cytometry
  • inherited blood coagulation disorders

ASJC Scopus subject areas

  • Hematology


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