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Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience. Am J Clin Pathol 2017 Jul 01;148(1):23-32 PMID: 28575217

Pubmed ID

28575217

DOI

10.1093/ajcp/aqx038

Abstract

Objectives: Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics of the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) and clinically validated platelet laboratory tests for diagnosis of HPDs.

Methods: The records of 61 patients with suspected HPDs were reviewed and ISTH-BAT scores calculated.

Results: Nineteen (31%) patients had thrombocytopenia, and 46 (75%) had positive ISTH-BAT scores. Thirteen and 17 patients had prolonged PFA-100 (Dade Behring, Miami, FL) adenosine diphosphate and epinephrine closure times, respectively. Twenty-two had abnormal platelet light transmission aggregation. Twenty-four had platelet transmission electron microscopy (PTEM) abnormalities (10 dense granule deficiency, 14 other ultrastructural abnormalities). Positive ISTH-BAT scores were associated with thrombocytopenia (P < .0001) and abnormal PTEM (P = .002). Twenty-three patients had normal results.

Conclusions: ISTH-BAT identified patients with suspected HPDs but lacked a robust association with laboratory abnormalities. Despite comprehensive laboratory testing, some patients may have normal results.

Author List

Perez Botero J, Warad DM, He R, Uhl CB, Tian S, Otteson GE, Barness RL, Olson MC, Gossman SC, Charlesworth JE, Nichols WL, Pruthi RK, Chen D

Author

Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of Wisconsin




Scopus

2-s2.0-85028973859   2 Citations

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Aged
Blood Platelet Disorders
Child
Child, Preschool
Female
Hemorrhage
Humans
Infant
Male
Middle Aged
Platelet Aggregation
Platelet Function Tests
Young Adult
jenkins-FCD Prod-353 9ccd8489072cb19f5b9f808bb23ed672c582f41e