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2011, Number 2

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Rev Hematol Mex 2011; 12 (2)

Primary thrombophilia in México VIII: Description of five kindreds of familial sticky platelet syndrome phenotype

Ruiz-Argüelles GJ, Alarcón-Urdaneta C, Calderón-García J, Ruiz-Delgado GJ

Language: English
References: 35
Page: 73-78
PDF size: 159.08 Kb.


ABSTRACT

Background: The sticky platelet syndrome (SPS) phenotype is the second most frequent thrombophilic condition identified in Mexican mestizos with a clinical marker of thrombophilia, only surpassed by the 677 C-›T mutation in the 5,10-methylen-tetrahydrofolate-reductase gene; approximately 50% of Mexican mestizo patients with a clinical maker of thrombophilia display the SPS phenotype, frequently associated with other thrombophilic conditions.
Objective: To present five kindreds of persons in whom the SPS phenotype presented in several family members.
Material and methods: The kindreds were studied because proposition in each one had clinical markers of thrombophilia and had suffered a vaso-occlusive episode.
Results: The SPS phenotype was prospectively found in two generations in these five kindreds, in some instances associated with other thrombosis-prone conditions.


REFERENCES

  1. Holiday PL, Mammen E, Gilroy J. Sticky platelet syndrome and cerebral infarction in young adults. Presented at the Ninth International Joint Conference on Stroke and Cerebral Circulation; 1983 (abstract). Phoenix, Arizona. Circulation 1983 (suppl).

  2. Mammen EF, Barnhart MI, Selik NR, Gilroy J, Klepach GL. Sticky platelet syndrome: A congenital platelet abnormality predisposing to thrombosis? Folia Haematol (Leipzig) 1988; 115:361-365.

  3. Bick RL. Sticky platelet syndrome: A common cause of unexplained arterial and venous thrombosis. Clin Appl Thromb Hemost 1998;4:77-81.

  4. Mammen EF. Ten years experience with the “sticky platelet syndrome”. Clin Appl Thromb Hemost 1995;1:66-72.

  5. Mammen EF. Sticky platelet syndrome. Sem Thromb Hemostasis 1999;25:361-365.

  6. Ruiz-Argüelles GJ, López-Martínez B, Cruz-Cruz D, Reyes- Aulis MB. Primary thrombophilia in México III. A prospective study of the sticky platelet syndrome. Clin Appl Thromb Hemost 2002;8:273-277.

  7. Kubisz P, Ivankov J, Holly P, Stasko JN, Musiał J. The glycoprotein IIIa PL(A1/A2) polymorphism--a defect responsible for the sticky platelet syndrome? Clin Appl Thromb Hemost 2006;12:117-119.

  8. Kubisz P, Bartosová L, Ivanková J, Holly P, et al. Is Gas6 protein associated with sticky platelet syndrome? Clin Appl Thromb Hemost 2010;16:701-704.

  9. Bick RL. Recurrent miscarriage syndrome due to blood coagulation protein/platelet defects: Prevalence, treatment and outcome results. Clin Appl Thrombosis/Hemostasis 2000;6:115-125.

  10. Berg-Damer E, Henkes H, Trobisch H, Kühne D. Sticky platelet syndrome: A cause of neurovascular thrombosis and thromboembolism. Intervent Neuroradiol 1997;3:145-154.

  11. Chitoor SR, Elsehety AE, Roberts GF, Laughlin WR. Sticky platelet syndrome: A case report and review of the literature. Clin Appl Thrombosis Hemostasis 1998;280-284.

  12. Chaturvedi S, Dzieczkowski JS. Protein S deficiency, activated protein C resistance and sticky platelet syndrome in a young woman with bilateral strokes. Cerebrovasc Dis 1999;9:127-130.

  13. Rac MW, Crawford N, Worley KC. Extensive thrombosis and first-trimester pregnancy loss caused by sticky platelet syndrome. Obstet Gynecol 2011;117:501-503.

  14. Bojalian MO, Akingba AG, Andersen JC, Swerdlow PS, et al. Sticky platelet syndrome: an unusual presentation of arterial ischemia. Ann Vasc Surg 2010;24:691-696.

  15. Loeffelbein DJ, Baumann CM, Mucke T, Wolff KD, et al. Sticky platelet syndrome as a possible cause for free flap failure – a case report. Microsurgery 2010;30:466-468.

  16. Sand M, Mann B, Bechara FG, Sand D. Sticky platelet syndrome type II presenting with arterial microembolii in the fingers. Thromb Res 2009;124:244.

  17. Mears KA, Van Stavern GP. Bilateral simultaneous anterior ischaemic optic neuropathy associated with sticky platelet syndrome. Br J Ophthalmol 2009;93:885-886.

  18. El-Amm JM, Andersen J, Gruber SA. Sticky platelet syndrome: a manageable risk factor for posttransplant thromboembolic events. Am J Transplant 2008;8:465.

  19. Randhawa S, Van Stavern GP. Sticky platelet syndrome and anterior ischaemic optic neuropathy. Clin Experiment Ophthalmol 2007;35:779-781.

  20. Muhlfeld AS, Ketteler M, Schwamborn K, Eitner F, et al. Sticky platelet syndrome: an underrecognized cause of graft dysfunction and thromboembolic complications in renal transplant. Am J Transplant 2007;7:1865-1868.

  21. Andersen J. Sticky platelet syndrome. Clin Adv Hematol Oncol 2006;4:432-434.

  22. Lazo-Langner A. Sticky platelet syndrome. Rev Invest Clin Méx 2004;56:103-104.

  23. Lewerenz V, Burchardt T, Buchau A, Ruzicka T, et al Livedoid vasculopathy with heterozygous factor V Leiden mutation and sticky platelet syndrome. Hautarzt 2004;55:379-381.

  24. Frenkel EP, Mammen EF. Sticky platelet syndrome and thrombocythemia. Hematol Oncol Clin North A 2003;17:63-83.

  25. Hernández-Hernández D, Villa R, Murillo-Bonilla LM, Cantú-Brito C, y col. Hiperagregabilidad plaquetaria y síndrome de plaquetas pegajosas (SPP) en eventos vasculares cerebrales en jóvenes. Rev Hematol Mex 2002;3:19.

  26. Ruiz-Argüelles GJ, López-Martínez B, Valdés-Tapia P, Gómez- Rangel JD, Reyes-Núñez V, Garcés-Eisele J. Primary thrombophilia in Mexico. V. A comprehensive prospective study indicates that most cases are multifactorial. Am J Hematol 2005; 78: 21-26.

  27. Ruiz-Argüelles GJ, González-Carrillo ML, Reyes-Núñez V, Garcés-Eisele J, y col. Trombofilia primaria en México, parte VI: Falta de asociación estadística entre las condiciones trombofílicas heredadas. Gac Méd Méx 2007;143:317-322.

  28. Weiss EJ, Bray PF, Tayback M, et al. A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med 1996;334:1090-1094.

  29. Born GVR, Cross MJ. The aggregation of blood platelets. J Physiol 1963;168:178-183.

  30. Newman PJ, Derbes RS, Aster RH. The human platelet alloimunogen PLA1 and PLA2 are associated with a leucine 33/ proline 33 amino acid polymorphism in membrane glycoprotein IIIa and are distinguishable by DNA typing. J Clin Invest 1989;83:1778-1782.

  31. Ruiz-Argüelles GJ, González-Estrada S, Garcés-Eisele J, Ruiz-Argüelles A. Primary thrombophilia in México: A prospective study. Am J Hematol 1999;60:1-5.

  32. Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Núñez V, Ramírez- Cisneros F. Primary thrombophilia in México II: Factor V G1691A (Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos. Am J Hematol 2001;66:28-31.

  33. Ruiz-Argüelles GJ, Poblete-Naredo I, Reyes-Núñez V, Garcés- Eisele J, et al. Primary thrombophilia in México IV: Leiden, Cambridge, Hong Kong, Liverpool and HR2 haplotype polymorphisms in the factor V gene of a group of thrombophilic Mexican Mestizos. Rev Invest Clin Mex 2004;56:600-604.

  34. Garcés-Eisele J, González-Carrillo ML, Reyes-Núñez V, Ruiz-Argüelles GJ. Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis. Hematology 2008;13:244-246.

  35. Ruiz-Argüelles GJ, Garcés-Eisele J, Camacho-Alarcón C, Moncada-González B, et al. Primary thrombophilia in México VIII: The glycoprotein IIIa PLA1/A2 polymorphism may result in the sticky platelet syndrome phenotype. Submitted




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