Diagnosis of Platelet Function Disorders: A Challenge for Laboratories

Wagner, Mary L.; Uzun, Günalp; Bakchoul, Tamam; Althaus, Karina

doi:10.1055/a-1700-7036

Cited by 7 publications

(6 citation statements)

References 56 publications

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“…Inherited thrombocytopathies, which are mainly characterized by functional defects of the platelets (platelet function disorders): defects of receptors, granules, transcription factors, components of signal transduction cascades, the cytoskeleton, or the membrane. 6…”

Section: Inherited Platelet Disordersmentioning

confidence: 99%

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

Ballmaier,

Germeshausen,

Schulze

et al. 2023

Hamostaseologie

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Inherited platelet disorders (IPDs) represent a heterogeneous group of disorders that include both quantitative (thrombocytopenia or thrombocytosis) and qualitative (thrombocytopathy) defects. To gain better knowledge about the prevalence, pathogenesis, and clinical consequences of specific diseases, to improve diagnosis and treatment of patients with IPD, and to support translational research on a genetic, molecular, and physiological basis, the THROMKIDplus study group currently comprising 24 sites in Germany, Austria, and Switzerland decided to establish a patient registry with associated biomaterial banking for children. This registry is designed as a retrospective-prospective, multicenter observational study and supposed to launch in the second half of 2023. Blood smears, plasma, platelet pellets, and DNA of patients will be stored in certified biomaterial banks for future translational research projects. The main inclusion criteria are (1) diagnosis of or highly suspected IPD after assessment of a THROMKIDplus competence center and (2) patients aged 0 to 17 years. Initial and follow-up data on patient history, laboratory parameters, standardized documentation of bleeding tendency, and congenital defects are collected according to good clinical practice and current data protection acts by using the MARVIN platform, a broadly used data management system supported by the German Society for Pediatric Oncology Hematology (GPOH). The THROMKIDplus study group intends to enroll ∼200 patients retrospectively and an annual amount of ∼50 patients prospectively.

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Section: Inherited Platelet Disordersmentioning

confidence: 99%

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

Ballmaier,

Germeshausen,

Schulze

et al. 2023

Hamostaseologie

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“…Between May 2022 and October 2022, all patients referred to the special coagulation laboratory of the Iranian Blood Transfusion Organization (IBTO) for laboratory investigations for coagulation disorders who had requests for platelet function and VWD panel testing by their physicians were recruited in our study. The study exclusion criteria were patients with Glanzmann thrombasthenia, BSS, coagulation factor deficiency, VWD, a platelet count less than 100 Â 10 9 /ml (except in the syndromic presentations), and a history of taking medications that may affect platelet function [2] in the last 2 weeks.…”

Section: Patient Selectionmentioning

confidence: 99%

“…In 2010, the International Society of Thrombosis and Hemostasis (ISTH) Scientific and Standardization Committee (SSC) established a bleeding assessment tool (BAT) to standardize the evaluation of bleeding symptoms for hemorrhagic disorders [2,3]. In this method, five scores (0-4) were considered to assess the severity of 14 bleeding symptoms [4].…”

Section: Introductionmentioning

confidence: 99%

“…Although rare PFDs such as Glanzmann thrombasthenia and Bernard-Soulier syndrome (BSS) have a severe bleeding presentation and are straightforward for diagnosis, the rest of PFDs usually have mild to moderate symptoms. These patients are challenging to diagnose because some experience only minor bleeding that may not refer to the hematologist, and others may require comprehensive platelet laboratory tests unavailable in most laboratories [1][2][3]. Evaluating bleeding severity and the difference between pathological and physiological conditions is challenging for individuals with mild bleeding disorders.…”

Section: Introductionmentioning

confidence: 99%

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Utility of the international society on thrombosis and hemostasis-bleeding assessment tool in the diagnosis of patients who suspected of platelet function disorders

Shahbazi,

Ahmadinejad,

Teimourpour

2023

Blood Coagulation &Amp; Fibrinolysis

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The ISTH-BAT is a structured bleeding assessment tool to record and help diagnose patients with possible bleeding disorders. However, a few studies evaluated the utility of ISTH-BAT in diagnosing patients with platelet function defects (PFDs). In this study, we evaluated the diagnostic utility of ISTH-BAT in predicting PFDs among patients suspected of PFDs. Forty patients suspected of PFDs and 21 normal healthy controls were evaluated by the ISTH-BAT scoring system, light transmission aggregometry (LTA), ATP-releasing assays (lumi-aggregometry), and expression of CD62P for diagnosis of PFDs. Among 40 patients suspected of PFDs, 10 were diagnosed as PFDs using lumiaggregometry and CD62P. The ISTH-BAT score in patients suspected of PFDs [(6, interquartile range (IQR) 1–8] and patients with PFDs was significantly higher than the control group (0; IQR 0–0) (P < 0.001). Receiver operating characteristic curves indicate that ISTH-BAT is not able to discriminate patients with PFDs from those without PFDs (areas under the curve of 0.620 (95% confidence interval 0.415–0.825). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the ISTH-BAT in predicting the presence of PFDs, respectively, were 40, 73.3, 33.3, and 78.6% in the cut-off ISTH-BAT at least 4 in adult men, at least 6 in adult women, and at least 3 in children (age < 18). The ISTH-BAT scoring system has good discriminatory power in diagnosing patients with PFDs from healthy controls but is ineffective in differentiating them from those without PFDs.

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“… 3 This is most likely a consequence of the technical challenges associated with platelet function studies, but probably also the lack of standardization, and the difficulties in interpreting the results. 4 5 6 7 8 Although newer methods are in the market, many experts consider light transmission aggregometry (LTA) as the gold standard for the assessment of platelet function, introduced by Born and O' Brien in 1962. 9 10 LTA determines platelet aggregation in platelet-rich plasma (PRP) by assessing the change in light transmission in response to added specific platelet agonists.…”

Section: Introductionmentioning

confidence: 99%

Automated Light Transmission Aggregometry with and without Platelet Poor Plasma Reference: A Method Comparison

Sachs

Röder

Cooper

et al. 2023

TH Open

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Background Light transmission aggregometry (LTA) is considered the gold standard for the evaluation of platelet function but is labor-intensive and involves numerous manual steps. Automation may contribute to standardization. Here, we evaluate the performance characteristics of a new automated instrument, Thrombomate XRA (TXRA), and compare it against a manual instrument (PAP-8). Materials and Methods Leftover blood samples from blood donors or patients were tested in parallel with identical reagents and in identical concentrations both manually using PAP-8 and automated on the TXRA. In addition to precision and method comparison, an additional evaluation was performed on the TXRA against “virtual” platelet-poor plasma (VPPP) based on artificial intelligence. The main focus was on comparing the maximum aggregation (MA%) values. Results Precision for MA% ranged from 1.4 to 4.6% on TXRA for all reagents. Normal ranges for 100 healthy blood donors on both instruments were in a similar range for all reagents, with a tendency to slightly higher values with TXRA. Most agonists resulted in normally distributed MA%. Comparing 47 patient samples on both devices showed a good correlation for both slope and MA% with some differences in individual samples with epinephrine and TRAP. Correlation between the TXRA measurement against PPP and “virtual” PPP demonstrated excellent correlation. Reaction signatures of both devices were very similar. Conclusion TXRA provides reproducible LTA results that correlate with an established manual method when tested against PPP or VPPP. Its ability to perform LTA only from platelet-rich plasma without requiring autologous PPP simplifies LTA. TXRA is an important step not only for further standardizing LTA but also for a more widespread use of this important method.

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Diagnosis of Platelet Function Disorders: A Challenge for Laboratories

Cited by 7 publications

References 56 publications

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

Utility of the international society on thrombosis and hemostasis-bleeding assessment tool in the diagnosis of patients who suspected of platelet function disorders

Automated Light Transmission Aggregometry with and without Platelet Poor Plasma Reference: A Method Comparison

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