Detection of mild inherited disorders of blood coagulation: Current options and personal recommendations

Expert Review of Hematology

Volumn 8, Issue 4, 2015, Pages 527-542

  Lippi, Giuseppe ^a   Pasalic, Leonardo ^b,c   Favaloro, Emmanuel J ^b  

^a Academic Hospital of Parma   (Italy)

^b WESTMEAD HOSPITAL   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

bleeding; blood coagulation; coagulation factor; deficiency; hemophilia; platelet dysfunction; von Willebrand disease

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 7A; BLOOD CLOTTING FACTOR 9; FIBRIN; FIBRINOGEN; HIGH MOLECULAR WEIGHT KININOGEN; PREKALLIKREIN; PROTEIN C; PROTEIN S; PROTHROMBIN; VON WILLEBRAND FACTOR;

BLEEDING DISORDER; BLOOD CLOTTING; BLOOD CLOTTING TIME; DISEASE CLASSIFICATION; DISSEMINATED INTRAVASCULAR CLOTTING; ELECTRON MICROSCOPY; FAMILY HISTORY; FLOW CYTOMETRY; GENETIC DISORDER; HEMOPHILIA A; HEMOPHILIA B; HEMOSTASIS; HUMAN; IMMUNOASSAY; LABORATORY DIAGNOSIS; MILD INHERITED BLEEDING DISORDER; NONHUMAN; PARTIAL THROMBOPLASTIN TIME; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROTHROMBIN TIME; REVIEW; SCORING SYSTEM; SCREENING TEST; THROMBIN TIME; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE DYSFUNCTION; THROMBOCYTE FUNCTION; THROMBOCYTE FUNCTION ANALYZER; THROMBOCYTE MEMBRANE; VON WILLEBRAND DISEASE; ALGORITHM; BLOOD; BLOOD CLOTTING TEST; BLOOD COAGULATION DISORDERS, INHERITED; DIFFERENTIAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX;

ALGORITHMS; BLOOD COAGULATION DISORDERS, INHERITED; BLOOD COAGULATION TESTS; DIAGNOSIS, DIFFERENTIAL; HEMOSTASIS; HUMANS; PREVALENCE; SEVERITY OF ILLNESS INDEX;

EID: 84936950527     PISSN: 17474086     EISSN: 17474094     Source Type: Journal    
DOI: 10.1586/17474086.2015.1039978     Document Type: Review

References (112)

1. Lippi G, Franchini M, Targher G. Arterial thrombus formation in cardiovascular disease. Nat Rev Cardiol 2011;8:502-12
2. Lippi G, Favaloro EJ, Franchini M, Guidi GC. Milestones and perspectives in coagulation and hemostasis. Semin Thromb Hemost 2009;35:9-22
3. Versteeg HH, Heemskerk JW, Levi M, Reitsma PH. New fundamentals in hemostasis. Physiol Rev 2013;93:327-58
4. Kwaan HC. From fibrinolysis to the plasminogen-plasmin system and beyond: a remarkable growth of knowledge, with personal observations on the history of fibrinolysis. Semin Thromb Hemost 2014;40:585-91
5. Heemskerk JWM. Platelet-based coagulation: different populations, different functions. J Thromb Haemost 2013;11:2-16
6. McFayden JD. Differentiating haemostasis from thrombosis for therapeutic benefit. Thromb Haemost 2013;110:859-67
7. Bouchard BA. Chapter 21 - Interactions between platelets and the coagulation system. In: Michelson AD, editor. Platelets (Third Edition). Academic Press. 2013;p. 425-51
8. de Maat S, de Groot PG, Maas C. Contact system activation on endothelial cells. Semin Thromb Hemost 2014;40(8):887-94
9. Yee A, Kretz CA. Von Willebrand factor: form for function. Semin Thromb Hemost 2014;40(1):17-27
10. Szánto- T, Joutsi-Korhonen L, Deckmyn H, Lassila R. New insights into von Willebrand disease and platelet function. Semin Thromb Hemost 2012;38(1):55-63
11. Nurden AT. Platelet membrane glycoproteins: a historical review. Semin Thromb Hemost 2014;40(5):577-84
12. Fager AM. Properties of procoagulant platelets: defining and characterizing the subpopulation binding a functional prothrombinase. Arterioscler Thromb Vasc Biol 2010;30:2400-7
13. Alberio L. Surface expression and functional characterization of a-granule factor V in human platelets: effects of ionophore A23187, thrombin, collagen, and convulxin. Blood 2000;95:1694-702
14. Kempton CL. Platelet heterogeneity: variation in coagulation complexes on platelet subpopulations. Arterioscler Thromb Vasc Biol 2005;25:861-6
15. London FS. A subpopulation of platelets responds to thrombin- or SFLLRN-stimulation with binding sites for factor IXa. J Biol Chem 2004;279:19854-9
16. Lippi G, Favaloro EJ. Laboratory hemostasis: milestones in Clinical Chemistry and Laboratory Medicine. Clin Chem Lab Med 2013;51:91-7
17. Kenne E, Renne- T. Factor XII: a drug target for safe interference with thrombosis and inflammation. Drug Discov Today 2014;19:1459-64
18. Favaloro EJ, Lippi G. Coagulation update: what's new in hemostasis testing? Thromb Res 2011;127S2:S13-16
19. Duncan EM, Rodgers SE, McRae SJ. Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. Semin Thromb Hemost 2013;39: 272-82
20. Santagostino E, Fasulo MR. Hemophilia A and hemophilia B: different types of diseases? Semin Thromb Hemost 2013;39: 697-701
21. Kumar R, Carcao M. Inherited abnormalities of coagulation: hemophilia, von Willebrand disease, and beyond. Pediatr Clin North Am 2013;60:1419-41
22. Zimmerman B, Valentino LA. Hemophilia: in review. Pediatr Rev 2013;34:289-94
23. Peyvandi F, Favaloro EJ. Rare bleeding disorders. Semin Thromb Hemost 2009;35: 345-7
24. Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 2009;35:349-55
25. Othman M. Rare bleeding disorders: genetic, laboratory, clinical, and molecular aspects. Semin Thromb Hemost 2013;39: 575-8
26. Peyvandi F, Menegatti M, Palla R. Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management. Semin Thromb Hemost 2013;39:579-84
27. de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost 2013;39:585-95
28. Lancellotti S, Basso M, De Cristofaro R. Congenital prothrombin deficiency: an update. Semin Thromb Hemost 2013;39:596-606
29. Thalji N, Camire RM. Parahemophilia: new insights into factor V deficiency. Semin Thromb Hemost 2013;39:607-12
30. Zheng C, Zhang B. Combined deficiency of coagulation factors V and VIII: an update. Semin Thromb Hemost 2013;39:613-20
31. Mariani G, Bernardi F. Factor VII deficiency. Semin Thromb Hemost 2009;35:400-6
32. Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost 2009;35:407-15
33. Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb Hemost 2013;39:621-31
34. Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost 2013;39:632-41
35. James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders -bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency. Haemophilia 2014;20(Suppl 4): 71-5
36. Favaloro EJ. Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost 2011;37:425-6
37. Flood VH. Perils, problems, and progress in laboratory diagnosis of von Willebrand disease. Semin Thromb Hemost 2014;40: 41-8
38. Favaloro EJ. Diagnosing von Willebrand disease: a short history of laboratory milestones and innovations, plus current status, challenges, and solutions. Semin Thromb Hemost 2014;40:551-70
39. White GC 2nd, Rosendaal F, Aledort LM, et al. Factor VIII and Factor IX Subcommittee. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001;85:560
40. Peyvandi F, Di Michele D, Bolton-Maggs PH, et al. Project on Consensus Definitions in Rare Bleeding Disorders of the Factor VIII/Factor IX Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost 2012;10:1938-43
41. Blanchette VS, Key NS, Ljung LR, et al. for the Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014;12:1935-9
42. Lippi G, Franchini M, Montagnana M, Favaloro EJ. Inherited disorders of blood coagulation. Ann Med 2012;44:405-18
43. Martlew VJ. Peri-operative management of patients with coagulation disorders. Br J Anaesth 2000;85:446-55
44. Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2005;3:2619-26
45. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006;4:766-3
46. Bowman M, Riddel J, Rand ML, et al. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire. J Thromb Haemost 2009;7: 1418-21
47. Bidlingmaier C, Grote V, Budde U, et al. Prospective evaluation of a pediatric bleeding questionnaire and the ISTH bleeding assessment tool in children and parents in clinical routine. J Thromb Haemost 2012;10:1335-41
48. Lippi G, Franchini M, Guidi GC. Diagnostic approach to inherited bleeding disorders. Clin Chem Lab Med 2007;45: 2-12
49. Favaloro EJ. Clinical utility of the PFA-100. Semin Thromb Hemost 2008;34:709-33
50. Favaloro EJ, Bonar R. External quality assessment/proficiency testing and internal quality control for the PFA-100 and PFA-200: an update. Semin Thromb Hemost 2014;40:239-53
51. Harrison P. The role of PFA-100 testing in the investigation and management of haemostatic defects in children and adults. Br J Haematol 2005;130:3-10
52. Quiroga T, Goycoolea M, Munoz B, et al. Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: comparative study in 148 patients. J Thromb Haemost 2004;2:892-8
53. Koscielny J, Ziemer S, Radtke H, et al. A practical concept for preoperative identification of patients with impaired primary hemostasis. Clin Appl Thromb Hemost 2004;10:195-204
54. Koscielny J, von Tempelhoff GF, Ziemer S, et al. A practical concept for preoperative management of patients with impaired primary hemostasis. Clin Appl Thromb Hemost 2004;10:155-66
55. Koscielny J, Kiesewetter H, von Tempelhoff GF. More on: platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost 2006;4:1426-7; discussion 1428-34
56. Harrison P, Lordkipanidze- M. Testing platelet function. Hematol Oncol Clin North Am 2013;27(3):411-41
57. Carubbi C, Masselli E, Gesi M, et al. Cytofluorimetric platelet analysis. Semin Thromb Hemost 2014;40:88-98
58. Rabbolini DJ, Morel-Kopp MC, Stevenson W, Ward CM. Inherited macrothrombocytopenias. Semin Thromb Hemost 2014;40:774-84
59. Bunimov N, Fuller N, Hayward CP. Genetic loci associated with platelet traits and platelet disorders. Semin Thromb Hemost 2013;39:291-305
60. Favaloro EJ, Bodo- I, Israels SJ, Brown SA. von Willebrand disease and platelet disorders. Haemophilia 2014;20(Suppl 4): 59-64
61. Lambert MP. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program 2011;2011:377-83
62. Nurden AT, Freson K, Seligsohn U. Inherited platelet disorders. Haemophilia 2012;18(Suppl 4):154-60
63. Favaloro EJ, Lippi G, Franchini M. Contemporary platelet function testing. Clin Chem Lab Med 2010;48:579-98
64. Lippi G, Montagnana M, Mattiuzzi C, et al. Preoperative laboratory testing. Minerva Med 2005;96:397-407
65. Lippi G, Favaloro EJ, Franchini M. Dangers in the practice of defensive medicine in hemostasis testing for investigation of bleeding or thrombosis: part I-routine coagulation testing. Semin Thromb Hemost 2014;40:812-24
66. Hayward CP, Moffat KA, Liu Y. Laboratory investigations for bleeding disorders. Semin Thromb Hemost 2012; 38(7):742-52
67. Lippi G, Favaloro EJ. Activated partial thromboplastin time: new tricks for an old dogma. Semin Thromb Hemost 2008;34: 604-11
68. Lippi G, Salvagno GL, Ippolito L, et al. Shortened activated partial thromboplastin time: causes and management. Blood Coagul Fibrinolysis 2010;21:459-63
69. Lippi G, Favaloro EJ. Recent guidelines and recommendations for laboratory assessment of the direct oral anticoagulants (DOACs): is there consensus? Clin Chem Lab Med 2015;53:185-97
70. Adams M. Measurement of lupus anticoagulants: an update on quality in laboratory testing. Semin Thromb Hemost 2013;39(3):267-71
71. Moore GW. Recent guidelines and recommendations for laboratory detection of lupus anticoagulants. Semin Thromb Hemost 2014;40:163-71
72. Favaloro EJ, Wong RCW. Antiphospholipid antibody testing for the antiphospholipid syndrome: a synopsis of challenges and recent guidelines. Pathology 2014;46:481-95
73. Lima-Oliveira G, Salvagno GL, Danese E, et al. Sodium citrate blood contamination by K2-ethylenediaminetetraacetic acid (EDTA): impact on routine coagulation testing. Int J Lab Hematol 2014;doi: 10.1111/ijlh.12301
74. Lippi G, Salvagno GL, Montagnana M, et al. Quality standards for sample collection in coagulation testing. Semin Thromb Hemost 2012;38:565-75
75. Lippi G, Ippolito L, Favaloro EJ. Technical evaluation of the novel preanalytical module on instrumentation laboratory ACL TOP: advancing automation in hemostasis testing. J Lab Autom 2013;18:382-90
76. Salvagno GL, Lippi G, Montagnana M, et al. Influence of temperature and time before centrifugation of specimens for routine coagulation testing. Int J Lab Hematol 2009;31:462-7
77. Favaloro EJ, Adcock DM. Standardization of the INR: how good is your laboratory's INR and can it be improved? Semin Thromb Hemost 2008;34:593-603
78. Gatt A, Chen D, Pruthi RK, et al. From vitamin k antagonists to liver international normalized ratio: a historical journey and critical perspective. Semin Thromb Hemost 2014;40:845-51
79. Kundu SK, Heilmann EJ, Sio R, et al. Description of an in vitro platelet function analyzer-PFA-100. Semin Thromb Hemost 1995;21(Suppl 2):106-12
80. Kershaw G, Orellana D. Mixing tests: diagnostic aides in the investigation of prolonged prothrombin times and activated partial thromboplastin times. Semin Thromb Hemost 2013;39:283-90
81. Kershaw G, Favaloro EJ. Laboratory identification of factor inhibitors: an update. Pathology 2012;44:293-302
82. Favaloro EJ, Bonar RA, Meiring M, et al. Evaluating errors in the laboratory identification of von Willebrand disease in the real world. Thromb Res 2014;134: 393-403
83. Favaloro EJ, Mohammed S. Towards improved diagnosis of von Willebrand disease: comparative evaluations of several automated von Willebrand factor antigen and activity assays. Thromb Res 2014;134: 1292-300
84. Goodeve AC, Perry DJ, Cumming T, et al. Genetics of haemostasis. Haemophilia 2012; 18(Suppl 4):73-80
85. Lillicrap D. Molecular testing for disorders of hemostasis. Int J Lab Hematol 2013;35: 290-6
86. Carubbi C, Masselli E, Gesi M, et al. Cytofluorimetric platelet analysis. Semin Thromb Hemost 2014;40:88-98
87. Nurden AT. Platelet membrane glycoproteins: a historical review. Semin Thromb Hemost 2014;40:577-84
88. Cox K, Price V, Kahr WH. Inherited platelet disorders: a clinical approach to diagnosis and management. Expert Rev Hematol 2011;4:455-72
89. Carubbi C, Masselli E, Nouvenne A, et al. Laboratory diagnostics of inherited platelet disorders. Clin Chem Lab Med 2014;52: 1091-106
90. Carpenter SL, Mathew P. Alpha2-antiplasmin and its deficiency: fibrinolysis out of balance. Haemophilia 2008;14(6):1250-4
91. Kottke-Marchant K. Algorithmic approaches to hemostasis testing. Semin Thromb Hemost 2014;40:195-204
92. McEwen BJ. The influence of diet and nutrients on platelet function. Semin Thromb Hemost 2014;40(2):214-26
93. Lippi G, Mattiuzzi C. Testing volume is not synonymous of cost, value and efficacy in laboratory diagnostics. Clin Chem Lab Med 2013;51:243-5
94. Marlar RA, Gausman JN, Engel JW. Validation of hemostasis and coagulation assays: recommendations and guidelines. Semin Thromb Hemost 2014;40:186-94
95. Favaloro EJ, Plebani M, Lippi G. Standardization and harmonization of antiphospholipid antibody assays. Semin Thromb Hemost 2014;40:161-2
96. de Moerloose P, Levrat E, Fontana P, Boehlen F. Diagnosis of mild bleeding disorders. Swiss Med Wkly 2009; 139(23-24):327-32
97. Rydz N, James PD. Approach to the diagnosis and management of common bleeding disorders. Semin Thromb Hemost 2012;38(7):711-19
98. Hayward CP, Moffat KA. Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. Int J Lab Hematol 2013;35(3):322-33
99. Mezzano D, Quiroga T, Pereira J. The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays. Semin Thromb Hemost 2009;35: 242-54
100. Favaloro EJ, Meijer P, Jennings I, et al. Problems and solutions in laboratory testing for hemophilia. Semin Thromb Hemost 2013;39:816-33
101. Favaloro EJ, Lippi G. Laboratory reporting of haemostasis assays: The final post-analytical opportunity to reduce errors of clinical diagnosis in hemostasis? Clin Chem Lab Med 2010;48:309-21
102. Daly ME, Leo VC, Lowe GC, et al. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? Br J Haematol 2014;165(2):193-203
103. Angiolillo DJ, Ferreiro JL, Price MJ, et al. Platelet function and genetic testing. J Am Coll Cardiol 2013;62(17 Suppl):S21-31
104. Pavlova A, Oldenburg J. Defining severity of hemophilia: more than factor levels. Semin Thromb Hemost 2013;39:702-10
105. Favaloro EJ, Franchini M, Lippi G. Aging hemostasis: changes to laboratory markers of hemostasis as we age - a narrative review. Semin Thromb Hemost 2014;40:621-33
106. Lippi G, Favaloro EJ. The missing link between genotype, phenotype and clinics. Biochem Med 2009;19:137-45
107. Zarrilli F, Sanna V, Ingino R, et al. Prenatal diagnosis of haemophilia: our experience of 44 cases. Clin Chem Lab Med 2013;51: 2233-8
108. Dargaud Y, Negrier C. Thrombin generation testing in haemophilia comprehensive care centres. Haemophilia 2010;16:223-30
109. Lippi G, Plebani M, Favaloro EJ. Technological advances in the hemostasis laboratory. Semin Thromb Hemost 2014; 40(2):178-85
110. Lacroix R, Dignat-George F. Microparticles: new protagonists in pericellular and intravascular proteolysis. Semin Thromb Hemost 2013;39:33-9
111. Hua VM, Chen VMY. Procoagulant platelets and the pathways leading to cell death. Semin Thromb Hemost 2015;doi: 10.1055/s-0034-1544002
112. Zia AN, Chitlur M, Rajpurkar M, et al. Thromboelastography identifies children with rare bleeding disorders and predicts bleeding phenotype. Haemophilia 2015; 21(1):124-32