Factor V Leiden and other thrombophilias, frequency in a center of Cali (Colombia) high complexity.

Factor V Leiden y otras trombofilias, frecuencia en un centro de alta complejidad de Cali (Colombia).

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Juan Camilo Baena
Angélica María Murcia
María Alejandra Franco
Isabella Moreno
Joaquín Donaldo Rosales
Andrés Castro
Robinson Pacheco
Abstract

Objective: To describe the frequency, and sociodemographic and clinical characteristics of adult patients with suspected thrombophilia with the following diagnostics: V Leiden mutation factor and the prothrombin 20210GA, and deficit of: protein C, S and antithrombin III, and hyperhomocysteinemia in a high complexity hospital in Cali, Colombia, between 2011 and 2014. Methods: A cross-sectional study was carried out analyzing the records of patients who were assessed for the V Leiden mutation factor, via rPCR. The distribution of the numerical variables was evaluated using the Shapiro-Wilk test and these were presented with measures of central tendency and dispersion, as appropriate. The groups were compared using the Chi-squared test and the Fisher exact test. Results: The V Leiden factor was present in 8.4% of patients with thrombosis, all heterozygous. Lower limb, retina and cerebrovascular events accounted for more than 80 per cent of the thrombosis cases. The most frequent alteration in individuals with thrombosis was hyperhomocysteinemia (34.4%), followed by a deficit of protein S (19.8%), antithrombin III (11.3%), G20210A prothrombin mutation (4.3%) and deficit of protein C (2.7%). Conclusion: In this study, the frequency of the V Leiden factor and the G20210A mutation were lower than those reported in the literature. These thrombophilias do not explain most of the cases of idiopathic thrombosis that are evaluated in our environment. It is necessary to perform an adequate differential diagnosis and study the presence of thrombophilias are studied in at-risk groups in order to reduce complications.

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Author Biographies (SEE)

Juan Camilo Baena, Universidad Icesi

Universidad Icesi, convenio Fundación Valle del Lili, Servicio de Medicina Interna, Cali (Colombia).

Angélica María Murcia, Universidad CES

Universidad CES, convenio Fundación Valle del Lili, Servicio de Medicina Interna, Cali (Colombia).

María Alejandra Franco, Universidad Icesi

Universidad Icesi, Facultad de Ciencias de la Salud, Cali (Colombia).

Isabella Moreno, Universidad Icesi

Universidad Icesi, Facultad de Ciencias de la Salud, Cali (Colombia).

Joaquín Donaldo Rosales, Fundación Valle del Lili

Fundación Valle del Lili, Servicio de Hematología, Cali (Colombia).

Andrés Castro, Fundación Valle del Lili

Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali (Colombia).

Robinson Pacheco, Universidad Icesi

Universidad Icesi, Facultad de Ciencias de la Salud, Departamento de Salud Pública, Cali (Colombia).

References

Pomp ER, Le Cessie S, Rosendaal FR, Doggen CJM. Risk of venous thrombosis: obesity and its joint effect with oral contraceptive use and prothrombotic mutations. Br J Haematol. 2007;139(2):289-96.

Ceresetto JM. Venous thromboembolism in Latin America: a review and guide to diagnosis and treatment for primary care. Clinics [Sao Paulo] [internet]. 2016;71(1):36-46. Disponible en: http://doi:10.6061/clinics/2016(01)07

López JA, Kearon C, Lee AY. Deep venous thrombosis. Hematology Am Soc Hematol Educ Program [internet]. 2004;439-56. Disponible en: http://asheducationbook.hematologylibrary.org/content/2004/1/439.abstract

Anderson JA, Weitz JI. Hypercoagulable states. Clin Chest Med [internet]. 2010;31(4):659-73. Disponible en: http://dx.doi.org/10.1016/j.ccc.2011.09.007

Van Langevelde K, Flinterman LE, Van Hylckama Vlieg A, Rosendaal FR, Cannegieter SC. Broadening the factor V Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum. Blood. 2012;120(5):933-46.

Van Cott EM, Khor B, Zehnder JL. Factor V Leiden. Am J Hematol. 2016;91(1):46-9. 7. Kujovich JL. Factor V Leiden thrombophilia. Genet Med [internet]. 2011;13(1):1-16. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/21116184n y http://www.nature.com/articles/gim920112

Torres JD, Cardona H, Álvarez L, Cardona-Maya W, Castañeda SA, Quintero-Rivera F, et al. Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. Am J Hematol. 2006;81(12):933-7.

Buitrago LE, Casas CP, Solano MH. Trombosis inusuales y trombofilia, un problema díficil de abordar. Experiencia de cuatro años. Acta Médica Colombiana. 2013;38(3).

Lacayo-Leñero D, Hernández-Hernández D, Valencia-Martínez A, Barrales-Benítez O, Vargas-Ruiz AG. Primary thrombophilia in Mexico: a single tertiary referral hospital experience. Blood Coagul Fibrinolysis. 2016;27(8):920-4.

Segers K, Dahlbäck B, Nicolaes GA. Coagulation factor V and thrombophilia: background and mechanisms. Thromb Haemost. 2007;98(3):530-42.

Sandoval C, De la Hoz A, Yunis E. Estructura genética de la población colombiana. Rev Fac Med - Univ Nac Colomb [internet]. 1993;41(1):3-14. Disponible en: http://www.revistas.unal.edu.co/index.php/revfacmed/article/view/27220

Departamento Administrativo Nacional de Estadística (DANE). Colombia una nación multicultural: su diversidad étnica. [internet]. 2007. Disponible en: https://www.dane.gov.co/files/censo2005/etnia/sys/colombia_nacion.pdf

Franco RF, Santos SE, Elton J, Tavella MH, Zago MA. Prevalence of the G20210A polymorphism in the 3’-untranslated region of the prothrombin gene in different human populations. Acta Haematol. 1998;100(1):9-12.

Aznar J, Vayá A, Estellés A, Mira Y, Seguí R, Villa P, et al. Risk of venous thrombosis in carriers of the prothrombin G20210A variant and factor V Leiden and their interaction with oral contraceptives. Haematologica. 2000;85(12):1271-6.

Souto JC, Coll I, Llobet D, del Río E, Oliver A, Mateo J, et al. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost. 1998;80(3):366-9.

Desmarais S, de Moerloose P, Reber G, Minazio P, Perrier A, Bounameaux H. Resistance to activated protein C in an unselected population of patients with pulmonary embolism. Lancet. 1996;347(9012):1374-5.

Van Mens TE, Levi M, Middeldorp S. Evolution of factor V Leiden. Thromb Haemost. 2013;110(1):23-30.

Margaglione M, D’Andrea G, Giuliani N, Brancaccio V, De Lucia D, Grandone E, et al. Inherited prothrombotic conditions and premature ischemic stroke: sex difference in the association with factor V Leiden. Arterioscler Thromb Vasc Biol. 1999;19(7):1751-6.

Hoffman R, Benz E Jr, Silberstein L, Heslop H, Weitz J, Anastasi J. Hematology. Basic principles and practice. 6a ed. Philadelphia, PA: Saunders; 2013. p. 2013-2024

Buchanan GS, Rodgers GM, Ware Branch D. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obstet Gynaecol. 2003;17(3):397-411.

Sveinsdottir SV, Saemundsson Y, Isma N, Gottsäter A, Svensson PJ. Evaluation of recurrent venous thromboembolism in patients with factor V Leiden mutation in heterozygous form. Thromb Res [internet]. 2012;130(3):467-71. Disponible en: http://dx.doi.org/10.1016/j.thromres.2012.03.020

Eid SS, Shubeilat T. Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR G677A among 594 thrombotic Jordanian patients. Blood Coagul Fibrinolysis. 2005;16(6):417-21.

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