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
Date
06/03/2017Pubmed ID
28575217DOI
10.1093/ajcp/aqx038Scopus ID
2-s2.0-85028973859 (requires institutional sign-in at Scopus site) 13 CitationsAbstract
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 DAuthor
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
Blood Platelet Disorders
Child
Child, Preschool
Female
Hemorrhage
Humans
Infant
Male
Middle Aged
Platelet Aggregation
Platelet Function Tests
Young Adult