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. .
Original language | English (US) |
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Pages (from-to) | 23-32 |
Number of pages | 10 |
Journal | American journal of clinical pathology |
Volume | 148 |
Issue number | 1 |
DOIs | |
State | Published - 2017 |
Keywords
- CP coagulation
- CP flow cytometry
- Electron microscopy
- Platelet aggregation
- Platelet disorders
ASJC Scopus subject areas
- Pathology and Forensic Medicine