Screening and diagnosis of inherited platelet disorders

Bourguignon, Alex; Tasneem, Subia; Hayward, Catherine P.M.

doi:10.1080/10408363.2022.2049199

Cited by 15 publications

(17 citation statements)

References 370 publications

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“…Some patients in our cohort had DGD, including cases with acquired PFD, RUNX1 ‐FPDMM, and Jacobsen syndrome, and we recommend assessing for DGD by EM when testing for PFD as LTA and ATP release studies are not adequate screens for DGD 12 . Potentially, some cases with DGD (who did not have genetic testing) could have had relatively common PFD caused by pathogenic RUNX1 or FLI‐1 variants 2,8 …”

Section: Discussionmentioning

confidence: 99%

“…LTA with L‐PRP, and flow‐based platelet function tests, share the disadvantage of being laboratory‐developed tests that require local validation for diagnostic uses 17 . Flow cytometry‐based assessments of platelet function, including for patients with thrombocytopenia, have been used to identify PFD although the endpoints and agonist responses evaluated differ from LTA 2,18–22 . Flow cytometry has been used to assess ristocetin‐induced VWF binding to platelets, 16,18,23 and a prospective comparison with VWF levels and RIPA findings would help assess the diagnostic potential.…”

Section: Discussionmentioning

confidence: 99%

“…Inherited and acquired platelet function disorders (PFD) are important causes of bleeding 1–3 that require assessment of platelet function for diagnosis 4 . Light transmission aggregometry (LTA) remains the “gold standard” test for evaluating PFD 5–7 .…”

Section: Introductionmentioning

confidence: 99%

“…Although few studies have reported on LTA findings for platelet rich plasma (PRP) with low platelet counts (L‐PRP), experts suggest that LTA can be done: (1) without special procedures if PRP contains ≥150 × 10 9 platelets/L, and (2) with caution to test PRP with <150 × 10 9 platelets/L for aggregation abnormalities from Bernard‐Soulier syndrome (BSS), Glanzmann thrombasthenia (GT), type 2B and platelet‐type (PT‐) von Willebrand disease (VWD) 5 . Often, LTA is ordered for thrombocytopenic individuals to rule in or rule out these and other PFD, including ITGA2B/ITGB3 ‐related thrombocytopenia ( ITGA2B/ITGB3 ‐RT), FLI1 ‐RT, and familial platelet disorder with associated myeloid malignancy (FPDMM) 2,8 …”

Section: Introductionmentioning

confidence: 99%

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Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts

Altahan,

Mathews,

Bourguignon

et al. 2023

Int J Lab Hematology

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IntroductionLight transmission aggregometry (LTA) is important for diagnosing platelet function disorders (PFD) and von Willebrand disease (VWD) affecting ristocetin‐induced platelet aggregation (RIPA). Nonetheless, data is lacking on the utility of LTA for investigating thrombocytopenic patients and platelet rich plasma samples with low platelet counts (L‐PRP). Previously, we developed a strategy for diagnostic LTA assessment of L‐PRP that included: (1) acceptance of referrals/samples, regardless of thrombocytopenia severity, (2) tailored agonist selection, based on which are informative for L‐PRP with mildly or severely low platelet counts, and (3) interpretation of maximal aggregation (MA) using regression‐derived 95% confidence intervals, determined for diluted control L‐PRP (C‐L‐PRP).MethodsTo further evaluate the L‐PRP LTA strategy, we evaluated findings for a subsequent patient cohort.ResultsBetween 2008 and 2021, the L‐PRP strategy was applied to 211 samples (11.7% of all LTA samples) from 192 unique patients, whose platelet counts (median [range] × 109/L) for blood and L‐PRP were: 105 [13–282; 89% with thrombocytopenia] and 164 [17–249], respectively. Patient‐L‐PRP had more abnormal MA findings than simultaneously tested C‐L‐PRP (p‐values <0.001). Among patients with accessible electronic medical records (n = 181), L‐PRP LTA uncovered significant aggregation abnormalities in 45 (24.9%), including 18/30 (60%) with <80 × 109 platelets/L L‐PRP, and ruled out PFD, and VWD affecting RIPA, in others. The L‐PRP LTA strategy helped diagnose VWD affecting RIPA, Bernard Soulier syndrome, familial platelet disorder with myeloid malignancy, suspected ITGA2B/ITGB3‐related thrombocytopenia, and acquired PFD.ConclusionDiagnostic LTA with L‐PRP, using a strategy that considers thrombocytopenia severity, is feasible and informative.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts

Altahan,

Mathews,

Bourguignon

et al. 2023

Int J Lab Hematology

Self Cite

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“…While LTA remains the gold standard, investigations via flow cytometry have been increasingly used due to several advantages[ 57 58 ]. First, flow cytometry is used to evaluate GP deficiencies of platelet surface, abnormal adhesion, activation or aggregation, and dysfunctions in platelet procoagulant[ 16 22 59 60 ].…”

Section: F Low Cytometry For Clinical Bleeding Disordersmentioning

confidence: 99%

Flow cytometry for evaluating platelet immunophenotyping and function in patients with thrombocytopenia

Shen

2022

Tzu Chi Medical Journal

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Platelets play an essential role in primary hemostasis through bleeding and thromboembolism. Thus, the diagnosis or evaluation of impaired hereditary, acquired, and drug-related platelet dysfunction has become imperative. The assessment of the platelet function is too complex for routine platelet function study. The major methods involved in platelet function study include platelet function analyzer testing, thromboelastography, thromboelastometry, light transmission aggregometry, and flow cytometry. The current review article focuses on the methods with flow cytometry for immunophenotyping of platelet and evaluating platelet function for platelet disorders, especially in patients with thrombocytopenia. According to the consensus published by the International Society on Thrombosis and Haemostasis, for inherited and acquired platelet disorders, the two major measures by which flow cytometry determines platelet function are glycoprotein IIb/IIIa/P-selectin (CD62p) expression and percentage of leukocyte–platelet aggregates. Using flow cytometry to determine platelet function has several advantages, including good sensitivity to low platelet counts, small blood volume required, and the nonnecessity of centrifugation. However, flow cytometry has still many limitations and challenges, with standardization for routine laboratory testing also proving difficult. Although flow cytometry is available for multipurpose and sensitive study of platelet functions at the same time, the challenging analysis gradually increases and needs to be addressed before reality.

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Laboratory Diagnosis of Platelet Functional Defects

Miller

2025

Transfusion Medicine and Hemostasis

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Screening and diagnosis of inherited platelet disorders

Cited by 15 publications

References 370 publications

Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts

Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts

Flow cytometry for evaluating platelet immunophenotyping and function in patients with thrombocytopenia

Laboratory Diagnosis of Platelet Functional Defects

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