ISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function...

Area of Science:

• Pediatric Hematology
• Diagnostic Medicine
• Hemostasis and Thrombosis

Background:

• Mild inherited platelet function disorders (IPFDs) present diagnostic challenges in children.
• Accurate diagnosis is crucial for appropriate management and to prevent bleeding complications.

Purpose of the Study:

• To assess the diagnostic utility of platelet function analyzer (PFA) and the International Society on Thrombosis and Hemostasis bleeding-assessment-tool (ISTH-BAT) for detecting mild IPFDs in pediatric patients.
• To compare the performance of PFA and ISTH-BAT against comprehensive diagnostic workup including genetic screening.

Main Methods:

• Prospective single-center study of 97 children (<18 years) with suspected bleeding disorders.
• Standardized workup included ISTH-BAT, PFA (using adenosine diphosphate and epinephrine cartridges), platelet aggregation, immunofluorescence, and next-generation sequencing.
• Patients were categorized into von Willebrand disease (VWD), other IPFDs, or no diagnosis.

Main Results:

• The combined model of PFA and ISTH-BAT showed low performance (AUC 0.56) for diagnosing IPFDs, but higher for VWD (AUC 0.84).
• PFA results were prolonged in VWD and Glanzmann thrombasthenia, while ISTH-BAT scores were only positive in severe bleeding disorders, missing mild IPFDs and VWD.
• Low correlations were observed between PFA and ISTH-BAT (Spearman's coefficients 0.25-0.39).

Conclusions:

• Neither ISTH-BAT nor PFA, individually or combined, are effective tools for diagnosing mild IPFDs in children.
• PFA demonstrates utility in excluding severe IPFDs and VWD in pediatric patients, outperforming ISTH-BAT in this specific role.