Practice patterns in the diagnosis of inherited platelet disorders within a single institution.
: 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.
aDivision of Hematology, Department of Medicine bSpecial Coagulation Laboratory, Department of Laboratory Medicine and Pathology cElectron Microscope Core Facility, Mayo Clinic, Rochester, Minnesota, USA.
Juliana
J
Perez Botero
Rajiv K
RK
Pruthi
Julie A
JA
Majerus
Lea M
LM
Coon
Cindy B
CB
Uhl
Dong
D
Chen
Mrinal M
MM
Patnaik
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000465:Algorithms; D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis; D001791:Blood Platelet Disorders / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010979:Platelet Function Tests / Q000295:instrumentation / Q000592:standards*; D010818:Practice Patterns, Physicians' / Q000592:standards*; D012189:Retrospective Studies; D055815:Young Adult