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The Thrombocytopathy in the Netherlands Study: A Horizontal Diagnostic Approach for Suspected Congenital Platelet Defects
ISTH Academy. Urbanus R. Jul 10, 2019; 273754; OC 72.5
Rolf Urbanus
Rolf Urbanus
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OC 72.5

The Thrombocytopathy in the Netherlands Study: A Horizontal Diagnostic Approach for Suspected Congenital Platelet Defects

M. Blaauwgeers1, I. van Asten2, M. Kruip3, E. Beckers4, M. Coppens5, J. Eikenboom6, K.P.M. van Galen1, A. Huisman7, S. Korporaal7, H.K. Ploos van Amstel8, R. Tamminga9, R.T. Urbanus1, R. Schutgens1
1University Medical Center Utrecht, Van Creveldkliniek, Utrecht, the Netherlands, 2University Medical Center Utrecht, Van Creveld Laboratory, Utrecht, the Netherlands, 3Erasmus University Medical Center, Department of Haematology, Rotterdam, the Netherlands, 4Maastricht University Medical Center, Department of Hematology, Maastricht, the Netherlands, 5Amsterdam University Medical Center, location AMC, Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands, 6Leiden University Medical Center, Department of Internal Medicine, Division of Thrombosis and Haemostasis, Leiden, the Netherlands, 7University Medical Center Utrecht, Center for Circulatory Health, Department of Clinical Chemistry and Haematology, Utrecht, the Netherlands, 8University Medical Center Utrecht, Department of Medical Genetics, Utrecht, the Netherlands, 9University Medical Center Groningen, Department of Pediatric Hematology, Beatrix Children's Hospital, Groningen, the Netherlands

Main Topic: Platelet Disorders
Category: Platelet Disorders, Hereditary

Background: Congenital platelet defects (CPD) are rare disorders of primary hemostasis caused by congenital defects in platelet production or function. Identification of CPDs is challenging and usually requires highly specialized tests and multiple hospital visits.
Aims: This study reports the results of a horizontal diagnostic approach in patients suspected for a CPD.
Methods: Laboratory tests consisted of a complete blood count, light transmission aggregometry, nucleotide measurement, flow cytometry and whole exome sequencing with a selected 88 gene panel. The study was approved by the Medical Ethical Committee of the University Medical Center Utrecht and all participants gave written informed consent in accordance with the declaration of Helsinki.
Results: In total, 200 patients were evaluated: 19 patients with a previously diagnosed CPD that served as positive control and 181 patients suspected for a CPD, of whom 45 had a thrombocytopenia. A CPD was identified in 59% (107/181) of patients. They were classified as dense granule deficiency or defects in the ADP, thromboxane A2 or GPIb-V-IX pathway. The remainder were categorized as isolated thrombocytopenia or complex abnormalities. A (likely) pathogenic mutation was identified in 7% (12/181) of patients and was reported more often in thrombocytopenic patients than in those with normal platelet counts (16% versus 4%). In patients with a normal platelet count and no objective platelet function defect (66/181, 36%), no mutations were found.
Conclusions: A horizontal diagnostic approach leads to the identification of a CPD in more than half of adult patients, but only a small proportion receives a molecular diagnosis.

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