Value of Platelet Esoteric Testing in Laboratory Diagnosis of Platelet Disorders: A Single Center Experience
Bibliographic record
Abstract
Introduction Patients with inherited and acquired platelet disorders (PD) frequently present with thrombocytopenia and/or mucocutaneous bleeding. Diagnosis of PDs relies on both clinical and laboratory investigation, which encompasses both routine and esoteric platelet testing. The former includes platelet indices, light transmission aggregation (LTA) and platelet function analyzer (PFA-100). The latter includes platelet glycoprotein (GP) assessment by flow cytometry and platelet transmission electron microscopy (PTEM). Several recent studies have demonstrated limited sensitivities of routine platelet testing. It is uncertain if a combination of both routine and esoteric testing can vastly improve the sensitivity. Our goal is to assess the value of platelet esoteric testing and the ultimate sensitivity of laboratory platelet testing in diagnosing PDs. Methods Patients (between year 2012 and 2015) with a known or suspected inherited or acquired platelet disorders were recruited for platelet routine and esoteric testing. Patients' clinical features including ISTH bleeding assessment tool (BAT) scores, platelet count, LTA, PFA-100 ADP (CADP) and epinephrine (CEPI) cartridge closure times, GP expression by flow cytometry and PTEM were performed. All clinical and laboratory variables were collected and statistically analyzed. Results A total of 69 patients (51 females; median age 40 years; range: 8 months to 76 years) were enrolled to this cohort study. By retrospective chart review, 34 patients (49%) had a positive ISTH-BAT score (range 0 to 16). The most common bleeding manifestations (on any degree of severity) were cutaneous bleeding present in 53% of patients (n=37), menorrhagia in 47% of females (n=24), epistaxis in 36% (n=25) and postoperative bleeding in 35% (n=24). Joint, muscle and CNS hemorrhage were the least frequent with 7%, 6% and 1% of patients reporting bleeding in these sites. A total of 22 patients (32%) had thrombocytopenia at the time of their evaluation. Fifty-eight patients (84%) had platelet aggregation studies and of those 15 (26%) had an abnormal study. PFA-100 was performed in 57 patients (83%) of whom 42% (n=24) had prolonged closure times with either ADP or epinephrine. PTEM was performed on all samples. Twenty-seven patients (39%) had abnormal platelet structure including 17 patients who had dense granule deficiency. GP by flow cytometry was performed in 41 patients (59%) and abnormal glycoprotein expression was detected in 6 patients (15%). Of the 55 patients who had all tests performed, 22 patients (40%) had completely normal results. Of the routine tests, only PFA-CEPI or -CADP prolongation is associated with the likelihood of a PTEM abnormality (P<0.005). With the assistance of molecular testing, there were 2 cases of MYH-9 mutation-related platelet disorders, one of RUNX1 mutation-associated thrombocytopenia, one of York platelet syndrome, two of Bernard Soulier variants, one of Quebec syndrome and three of gray platelet syndrome or variants. Bleeding scores showed no statistically significant association with severity of any laboratory abnormalities. Conclusion In this cohort, the sensitivity of routine platelet testing in clinically suspected PDs is about 30-40%. Addition of platelet esoteric testing improves the sensitivity to 60%. However, the degree of platelet laboratory abnormalities do not predict severity of bleeding. The findings of this cohort underscore the importance of clinical assessment and both platelet routine and esoteric testing in investigation of patients with suspected PDs. Disclosures No relevant conflicts of interest to declare.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".