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 1;148(1):23-32. doi: 10.1093/ajcp/aqx038.


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.

Keywords: CP coagulation; CP flow cytometry; Electron microscopy; Platelet aggregation; Platelet disorders.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blood Platelet Disorders / diagnosis*
  • Blood Platelet Disorders / genetics
  • Child
  • Child, Preschool
  • Female
  • Hemorrhage / diagnosis*
  • Hemorrhage / genetics
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Platelet Aggregation*
  • Platelet Function Tests
  • Young Adult