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 journalArticle

1 Citation (Scopus)

Abstract

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)
JournalBlood Coagulation and Fibrinolysis
DOIs
StateAccepted/In press - Sep 7 2016

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Blood Platelets
Flow Cytometry
Genetic Testing
Transmission Electron Microscopy
Light
Inborn Genetic Diseases
Hemostasis
Thrombocytopenia
Microscopy
Electron Microscopy
Thrombosis
Cohort Studies
Retrospective Studies
Hemorrhage

ASJC Scopus subject areas

  • Medicine(all)
  • Hematology

Cite this

Practice patterns in the diagnosis of inherited platelet disorders within a single institution. / Perez Botero, Juliana; Pruthi, Rajiv K.; Majerus, Julie A.; Coon, Lea M.; Uhl, Cindy B.; Chen, Dong; Patnaik, Mrinal M.

In: Blood Coagulation and Fibrinolysis, 07.09.2016.

Research output: Contribution to journalArticle

Perez Botero, Juliana ; Pruthi, Rajiv K. ; Majerus, Julie A. ; Coon, Lea M. ; Uhl, Cindy B. ; Chen, Dong ; Patnaik, Mrinal M. / Practice patterns in the diagnosis of inherited platelet disorders within a single institution. In: Blood Coagulation and Fibrinolysis. 2016.
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