Characterization and Diagnostic Work-up of a Patient with Functionally Impaired Platelet GP6

Verena Klümpers; Isabelle Müller; Peter Hellstern; Torsten J. Schulze; Christine Mannhalter; Peter Bugert; Hermann Eichler

doi:10.5482/HAMO-17-01-0004

Hämostaseologie, Table of Contents

Hamostaseologie 2018; 38(02): 112-120
DOI: 10.5482/HAMO-17-01-0004

Case report

Schattauer GmbH Stuttgart

Characterization and Diagnostic Work-up of a Patient with Functionally Impaired Platelet GP6

Verena Klümpers

¹Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany

,

Isabelle Müller

²Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University and Saarland University Medical Center, 66421 Homburg, Germany

,

Peter Hellstern

³Center of Hemostasis and Thrombosis, Zurich, Switzerland

,

Torsten J. Schulze

¹Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany

,

Christine Mannhalter

⁴Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria

,

Peter Bugert

¹Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany

,

Hermann Eichler

²Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University and Saarland University Medical Center, 66421 Homburg, Germany

› Author Affiliations

Abstract

Full Text

References

References
1 Harrison P. Platelet function analysis. Blood Rev 2005; 19: 111-123
2 Haubelt H, Anders C, Hellstern P. Can platelet function tests predict the clinical efficacy of aspirin?. Semin Thromb Hemost 2005; 31: 404-410
3 Fries D, Streif W. Point-of-care testing in critically ill patients. Semin Thromb Hemost 2015; 41: 75-83
4 Toth O, Calatzis A, Penz S. , et al. Multiple electrode aggregometry: a new device to measure platelet aggregation in whole blood. Thromb Haemost 2006; 96: 781-788
5 Breddin HK. Can platelet aggregometry be standardized?. Platelets 2005; 16: 151-158
6 Bellucci S, Huisse MG, Boval B. , et al. Defective collagen-induced platelet activation in two patients with malignant haemopathies is related to a defect in the GPVI-coupled signalling pathway. Thromb Haemost 2005; 93: 130-138
7 Dumont B, Lasne D, Rothschild C. , et al. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood 2009; 114: 1900-1903
8 Moroi M, Jung SM, Okuma M. , et al. A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest 1989; 84: 1440-1445
9 Gibbins JM, Okuma M, Farndale R. , et al. Glycoprotein VI is the collagen receptor in platelets which underlies tyrosine phosphorylation of the Fc receptor gamma-chain. FEBS letters 1997; 413: 255-259
10 Jandrot-Perrus M, Busfield S, Lagrue AH. , et al. Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily. Blood 2000; 96: 1798-1807
11 Jung SM, Moroi M. Platelet glycoprotein VI. Adv Exp Med Biol 2008; 640: 53-63
12 Dunkley S, Arthur JF, Evans S. , et al. A familial platelet function disorder associated with abnormal signalling through the glycoprotein VI pathway. Br J Haematol 2007; 137: 569-577
13 Arthur JF, Dunkley S, Andrews RK. Platelet glycoprotein VI-related clinical defects. Br J Haematol 2007; 139: 363-372
14 Hermans C, Wittevrongel C, Thys C. , et al. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost 2009; 7: 1356-1363
15 Kojima H, Moroi M, Jung SM. , et al. Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. J Thromb Haemost 2006; 4: 2433-2442
16 Nurden P, Tandon N, Takizawa H. , et al. An acquired inhibitor to the GPVI platelet collagen receptor in a patient with lupus nephritis. J Thromb Haemost 2009; 7: 1541-1549
17 Jandrot-Perrus M, Lagrue AH, Leduc M. , et al. Convulxin-induced platelet adhesion and aggregation: involvement of glycoproteins VI and Ia/IIa. Platelets 1998; 9: 207-211
18 Weiss HJ, Aledort LM, Kochwa S. The effect of salicylates on the hemostatic properties of platelets in man. J Clin Invest 1968; 47: 2169-2180
19 Hagenstrom H, Schlenke P, Hennig H. , et al. Quantification of platelet-associated IgG for differential diagnosis of patients with thrombocytopenia. Thromb Haemost 2000; 84: 779-783
20 Kiefel V, Santoso S, Weisheit M. , et al. Monoclonal antibody--specific immobilization of platelet antigens (MAIPA): a new tool for the identification of platelet-reactive antibodies. Blood 1987; 70: 1722-1726
21 Alshehri OM HC, Montague S, Watson SK, Frampton J, Bender M, Watson SP. Homo sapiens glycoprotein VI platelet (GP6), transcript variant 2, mRNA. Blood 2015; 126: 1601-1608
22 Bugert P, Lese A, Meckies J. , et al. Optimized sensitivity of allele-specific PCR for prenatal typing of human platelet alloantigen single nucleotide polymorphisms. Biotechniques 2003; 35: 170-174
23 Rolf N, Knoefler R, Suttorp M. , et al. Optimized procedure for platelet RNA profiling from blood samples with limited platelet numbers. Clin Chem 2005; 51: 1078-1080
24 (ExAC) EAC. http://exac.broadinstitute.org/variant/19–55526271-G-A . accessed April 2016
25 Gresele P, Bury L, Falcinelli E. Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation. Semin Thromb Hemost 2016; 42: 292-305
26 Matus V, Valenzuela G, Saez CG. , et al. An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. J Thromb Haemost 2013; 11: 1751-1759
27 Watkins NA, O‘Connor MN, Rankin A. , et al. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. J Thromb Haemost 2006; 4: 1197-1205
28 Marjoram RJ, Li Z, He L. , et al. alpha2beta1 integrin, GPVI receptor, and common FcRgamma chain on mouse platelets mediate distinct responses to collagen in models of thrombosis. PloS one 2014; 9: e114035
29 Gratacap MP, Martin V, Valera MC. , et al. The new tyrosine-kinase inhibitor and anticancer drug dasatinib reversibly affects platelet activation in vitro and in vivo. Blood 2009; 114: 1884-1892
30 Watson CN, Kerrigan SW, Cox D. , et al. Human platelet activation by Escherichia coli: roles for FcγRIIA and integrin αIIbβ3. Platelets 2016; 27: 535-540
31 Ungerer M, Rosport K, Bultmann A. , et al. Novel antiplatelet drug revacept (Dimeric Glycoprotein VI-Fc) specifically and efficiently inhibited collagen-induced platelet aggregation without affecting general hemostasis in humans. Circulation 2011; 123: 1891-1899