Practice patterns in the diagnosis of inherited platelet disorders within a single institution. Blood Coagul Fibrinolysis 2017 Jun;28(4):303-308
Date
09/09/2016Pubmed ID
27607598DOI
10.1097/MBC.0000000000000596Scopus ID
2-s2.0-84986203493 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
: 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.
Author List
Perez Botero J, Pruthi RK, Majerus JA, Coon LM, Uhl CB, Chen D, Patnaik MMAuthor
Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Aged, 80 and over
Algorithms
Blood Coagulation Disorders, Inherited
Blood Platelet Disorders
Child
Child, Preschool
Cohort Studies
Female
Humans
Infant
Infant, Newborn
Male
Middle Aged
Platelet Function Tests
Practice Patterns, Physicians'
Retrospective Studies
Young Adult
