Clinical and laboratory phenotypes associated with the aspirin-like defect: A study in 17 unrelated families

British Journal of Haematology

Volumn 144, Issue 3, 2009, Pages 416-424

  Rolf, Nina ^a   Knoefler, Ralf ^a   Bugert, Peter ^b   Gehrisch, Siegmund ^a   Siegert, Gabriele ^a   Kuhlisch, Eberhard ^c   Suttorp, Meinolf ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Arachidonic acid; Aspirin like defect; Cyclooxygenase deficiency; Inherited platelet function disorder; Platelet signal transduction defect

Indexed keywords

ACETYLSALICYLIC ACID; ADENOSINE DIPHOSPHATE; ARACHIDONIC ACID; COLLAGEN; RISTOCETIN;

ADOLESCENT; ADULT; ARTICLE; ASPIRIN LIKE DEFECT DISEASE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING; BLOOD CLOTTING TIME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; HUMAN; IN VITRO STUDY; MALE; OUTCOME ASSESSMENT; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; THROMBOCYTE FUNCTION;

ADOLESCENT; ADULT; ARACHIDONIC ACID; BLEEDING TIME; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; FEMALE; HEMOSTATIC DISORDERS; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; PLATELET AGGREGATION; PLATELET FUNCTION TESTS; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; SIGNAL TRANSDUCTION; SYNDROME; THROMBOXANE A2; YOUNG ADULT;

EID: 58449090961     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07468.x     Document Type: Article

References (29)

1. Bolton-Maggs, P.H.B., Chalmers, E.A., Collins, P.W., Harrison, P., Kitchen, S., Liesner, R.J., Minford, A., Mumford, A.D., Parapia, L.A., Perry, D.J., Watson, S.P., Wilde, J.T. Williams, M.D. (2006) A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. British Journal of Haematology, 135, 603 633.
2. 2 activation. Blood, 81, 994 1000.
3. Granström, E., Diczfalusy, U., Hamberg, M., Hansson, G., Malmsten, C. Samuelsson, B. (1982) Thromboxane A2: biosynthesis and effects on platelets. Advances in Prostaglandin, Thromboxane and Leukotriene Research, 10, 15 58.
4. Harrison, P., Robinson, M.S., Mackie, I.J., Joseph, J., McDonald, S.J., Liesner, R., Savidge, G.F., Pasi, J. Machin, S.J. (1999) Performance of the platelet function analyzer PFA-100 in testing abnormalities of primary haemostasis. Blood Coagulation and Fibrinolysis, 10, 25 31.
5. Harrison, P., Robinson, M., Liesner, R., Khair, K., Cohen, H., Mackie, I. Machin, S. (2002) The PFA-100: a potential rapid screening tool for the assessment of platelet dysfunction. Clinical and Laboratory Haematology, 24, 225 232.
6. Hayward, C.P., Harrison, P., Cattaneo, M., Ortel, T.L. Rao, A.K. (2006a) Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. Journal of Thrombosis and Haemostasis, 4, 312 319.
7. Hayward, C.P.M., Rao, A.K. Cattaneo, M. (2006b) Congenital platelet disorders: overview of their mechanism, diagnostic evaluation and treatment. Haemophilia, 12 (Suppl. 3 128 136.
8. Hirata, T., Kakizuka, A., Ushikubi, F., Fuse, I., Okuma, M. Narumiya, S. (1994) Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. Journal of Clinical Investigation, 94, 1662 1667.
9. Homoncik, M., Jilma, B., Hergovich, N., Stohlawetz, P., Panzer, S. Speiser, W. (2000) Monitoring of aspirin (ASA) pharmacodynamics with the platelet function analyzer PFA-100. Thrombosis and Haemostasis, 83, 316 321.
10. Innes, A.J., Kennedy, G., McLaren, M., Bancroft, A.J. Belch, J.J. (2003) Dark chocolate inhibits platelet aggregation in healthy volunteers. Platelets, 14, 325 327.
11. Jilma, B. (2001) Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction. Journal of Laboratory and Clinical Medicine, 138, 152 163.
12. Khair, K. Liesner, R. (2006) Bruising and bleeding in infants and children - a practical approach. British Journal of Haematology, 133, 221 231.
13. Kouides, P.A. (2002) Evaluation of abnormal bleeding in woman. Current Hematology Reports, 1, 11 18.
14. Maguire, S., Mann, M.K., Sibert, J. Kemp, A. (2005) Are there patterns of bruising in childhood which are diagnostic or suggestive of abuse? A systematic review. Archives of Disease in Childhood, 90, 182 186.
15. Malmsten, C., Hamberg, M., Svensson, J. Samuelsson, B. (1975) Physiological role of an endoperoxide in human platelets: hemostatic defect due to platelet cyclo-oxygenase deficiency. Proceedings of the National Academy of Sciences USA, 72, 1446 1450.
16. Matijevic-Aleksic, N., McPhedran, P. Wu, K.K. (1996) Bleeding disorder due to platelet prostaglandin H synthase-1 (PGHS-1) deficiency. British Journal of Haematology, 92, 212 217.
17. Nyman, D., Eriksson, A.W., Lehmann, W. Blombäck, M. (1979) Inherited defective platelet aggregation with arachidonate as the main expression of a defective metabolism of arachidonic acid. Thrombosis Research, 14, 739 746.
18. Pearson, D.A., Holt, R.R., Rein, D., Paglieroni, T., Schmitz, H.H. Keen, C.L. (2005) Flavanols and platelet reactivity. Clinical and Developmental Immunology, 12, 1 9.
19. Philipp, C.S., Dilley, A., Miller, C.H., Evatt, B., Baranwal, A., Schwartz, R., Bachmann, G. Saidi, P. (2003) Platelet functional defects in women with unexplained menorrhagia. Journal of Thrombosis and Haemostasis, 1, 477 484.
20. Rak, K. Boda, Z. (1980) Hemostatic balance in congenital deficiency of platelet cyclooxygenase. Lancet, 8184, 44.
21. Rao, A.K. (1998) Congenital disorders of platelet function: disorders of signal transduction and secretion. American Journal of Medical Sciences, 316, 69 76.
22. Rao, G.H.R. White, J.G. (1981) Epinephrine potentiation of arachidonate-induced aggregation of cyclooxygenase-deficient platelets. American Journal of Hematology, 11, 355 366.
23. Rao, A.K., Jalagadugula, G. Sun, L. (2004) Inherited defects in platelet signalling mechanisms. Seminars in Thrombosis and Haemostasis, 30, 525 535.
24. Sadler, J.E. (2003) Von Willebrand disease type 1: a diagnosis in search of a disease. Blood, 101, 2089 2093.
25. 2. British Journal of Haematology, 48, 293 303.
26. Smith, W.L., DeWitt, D.L. Garavito, R.M. (2000) Cyclooxygenases: structural, cellular, and molecular biology. Annual Reviews in Biochemistry, 69, 145 182.
27. Vane, J.R., Bakhle, Y.S. Botting, R.M. (1998) Cyclooxygenase 1 and 2. Annual Reviews in Pharmacology and Toxicology, 38, 97 120.
28. Weiss, H.J. Lages, B.A. (1977) Possible congenital defect in platelet thromboxane synthetase. Lancet, 8014, 760 761.
29. Weiss, H.J. Rogers, J. (1972) Thrombocytopathia due to abnormalities in platelet release reaction - studies on six unrelated patients. Blood, 39, 187 196.