Assessment of Some Genetic thrombophilias in Nigerian patients with Venous Thromboembolism
PDF (engelska)

Referera så här

Assessment of Some Genetic thrombophilias in Nigerian patients with Venous Thromboembolism. (2025). Nigerian Journal of Physiological Sciences, 40(1). https://doi.org/10.54548/njps.v40i1.6

Abstract

Venous thromboembolism (VTE) is a leading cause of mortality globally, resulting from genetic risk factors and/or acquired risk factors like oral contraceptives, smoking, diabetes, immobilization, cancer, trauma, fracture, and surgical procedures. This study aims to assess the involvement and prevalence of some genetic thrombophilias in Nigerian VTE patients. A total of 107 participants were recruited, comprising 67 individuals with VTE from three tertiary hospitals in Southwest Nigeria and 50 apparently healthy controls. Parameters included the absolute platelet count, prothrombin time (PT), activated partial thromboplastin time (APTT), D-dimer, protein C, protein S, and antithrombin levels. The VTE patients had significantly lower mean platelet counts, protein C and S antigenic concentrations, and protein S activity (p<0.05), with elevated mean PT and D-dimer levels (p<0.05). Protein C antigen and activity levels were reduced in 6.8% and 2.5% of participants, respectively, indicating deficiencies, while protein S antigen and activity were reduced in 1.7% and 0.9%. One (0.9%) participant had reduced antithrombin III level. Seven participants with protein S or C deficiencies experienced recurrent thrombosis. The study identifies type I antithrombin III deficiency and types I and II protein C and S deficiencies as genetic risk factors for VTE. The prolonged PT and elevated D-dimer levels observed in this study challenged the assumption of consistently reduced PT in VTE patients

PDF (engelska)

Referenser

Abdi AA, Osman A (2017). Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. Journal of Thrombosis and Thrombolysis. 44(4):536-543.

Adeleye AO, Ogun GO (2016). Clinically diagnosed postoperative venous thromboembolism in a neurosurgery practice in Nigeria. World Neurosurgery. 89:259-265.

Adeyemo TA, Adediran A, Akinbami AA, Akanmu AS (2012). Prevalence of activated protein C resistance (Factor V Leiden) in Lagos, Nigeria. Nigerian Journal of Clinical Practice. 15:136-141.

Ageno W, Becattini C, Brighton T, Selby R, Kamphuisen PW (2008). Cardiovascular risk factors and venous thromboembolism: a meta-analysis. Circulation. 117:93-102.

Albertsen IE, Konstantinides SV, Piazza G, Goldhaber SZ, Larsen TB, Sogaard M, et al. (2022). Risk of recurrent venous thromboembolism in selected subgroups of men: a Danish nationwide cohort study. Thrombosis Open. 6:e378-e386.

Anders GH, Gorm J, Eva P (2010). Risk factors for venous thromboembolism. Circulation. 121(17):1896-1903.

Ashraf N, Visweshwar N, Jaglal M, Sokol L, Laber D. (2019)Evolving paradigm in thrombophilia screening. Blood Coagulation and Fibrinolysis.30(5):249-252.

Bakris GL (2016). The implications of blood pressure measurement methods on treatment targets for blood pressure. Circulation. 134(13):904-905.

Bamisaye EO, Okungbowa MA, Akanni OE, Akinbo DB (2021). Pregnancy-associated coagulopathies in selected community hospitals in Southwest Nigeria. Journal of Family Medicine and Primary Care. 10:1614-1620.

Bamisaye EO, Okungbowa MA, Alade DT, West OB, Oluwasuji GT (2020). Assessment of D-dimer levels in southwestern Nigerian pregnant women. Advance in Research. 21(9):60-68.

Bello FO, Akanmu AS, Adeyemo TA, Idowu BM, Okonkwo P, Kanki PJ (2021). Derangement of protein S and C4b-binding protein levels as acquired thrombophilia in HIV-infected adult Nigerians. South African Journal of HIV and Medicine. 22(1):1253-1257.

Centers for Disease Control and Prevention (CDC) (2023). Data and statistics on venous thromboembolism. Available from: www.cdc.gov/ncbddd/dvt/data.html.

Danwang C, Temgoua MN, Agbor VN, Tankeu AT, Noubiap JJ (2017). Epidemiology of venous thromboembolism in Africa: a systematic review. Journal of Thrombosis and Haemostasis. 15:1770-1781.

Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F. (2019). Hereditary thrombophilia. Acta Biomedica.90(10-S):44-46.

Di Micco P, Ruiz-Giménez N, Nieto JA, Aujesky D, del Molino F, Valle R, et al. (2018). Platelet count and outcome in patients with acute venous thromboembolism. Thromb Haemost. 110(5):1025-1034.

Fasola FA, Akere A, Akunwata CU, Onyejelam C, Osundina MA (2021). Protein C deficiency in a patient with anomalous hemiazygous vein and portal vein thrombosis. West African Journal of Medicine. 38(4):387-390.

García-Fuster MJ, Fabia MJ, Furió E, Pichler G, Redon J, Forner MJ, et al. (2014). Should we look for silent pulmonary embolism in patients with deep venous thrombosis? BMC Cardiovascular Disorder. 14:178. doi: 10.1186/1471-2261-14-178.

Ghouse J, Tragante V, Ahlberg G, Rand SA, Jespersen JB, Leinøe EB, et al. (2023). Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism. Nature and Genetics. 55(3):399-409.

Gupta A, Patibandla S. Protein C deficiency. (2023).In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; Available from: https://www.ncbi.nlm.nih.gov/books/NBK542222/

Gupta A, Tun AM, Gupta K. (2022). Protein S deficiency. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; Available from: https://www.ncbi.nlm.nih.gov/books/NBK544344/

Horner T, Mahan CE (2017). Venous thromboembolism: role of pharmacists and managed care considerations. American Journal of Managed Care. 23(20):S391-S393.

Horner T. and Mahan CE (2017). Venous thromboembolism: role of pharmacists and managed care considerations. American Journal of Managed Care.23(20): S391-S393.

Houénassi DM, Bigot A, Tchabi Y, Vehounkpé-Sacca J, Akindes-Dossou YR, Gbaguidi L, et al. (2013). Protein C deficiency in black Africans with venous thromboembolism in Cotonou, Benin. Annals of Cardiology Angeiol (Paris). 62(1):8-11.

Imoru M, Buseri FI (2016). Protein C and antithrombin III activities in healthy Nigerian women. International Journal of Hematological Research. 1(1):20-23.

Lim HY, O'Malley C, Donnan G, Nandurkar H, Ho P (2019). A review of global coagulation assays – is there a role in thrombosis risk prediction? Thrombosis Research. 179:45-55.

Okoye H, Chinawa J, Aniwada EC, Enweputana L, Nwagha T, Nwagha U (2019). Thrombogenic indices in an evaluation of pregnant Nigerian women with pregnancy loss. Tropical Journal of Obstetrics and Gynaecology. 36:122-125.

Okoye HC, Eweputanna LI, Okpani AO, Ejele OA (2017). Associations between pre-eclampsia and protein C and protein S levels among pregnant Nigerian women. International Journal of Gynaecology and Obstetrics. 137:26-30.

Olié V, Zhu T, Martinez I, Scarabin PY, Emmerich J (2012). Sex-specific risk factors for recurrent venous thromboembolism. Thrombosis Research. 130:16-20.

Onyemelukwe GC, Jibril HB (1992). Antithrombin III deficiency in Nigerian children with sickle cell disease: possible role in the cerebral syndrome. Tropical Geographical Medicine. 44(1-2):37-41.

Osunkalu VO, Kanu OO, Ngwuli F (2015). Antithrombin III: Plasma Activity and Reference Range Among Nigerian Blood Donors. Nigerian Postgraduate Medical Journal. 22(4):209-212.

Pastori D, Cormaci VM, Marucci S, Franchino G, Del Sole F, Capozza A, et al. (2023). A comprehensive review of risk factors for venous thromboembolism: from epidemiology to pathophysiology. International Journal of Molecular Science. 24(4):3169.

Patnaik MM, Moll S. (2008). Inherited antithrombin deficiency: a review. Haemophilia.14(6):1229-39. doi: 10.1111/j.1365-2516.2008.01830.x. PMID: 19141163.

Siddiqui BM, Patel MS, Rudge S, Best A, Mangwani J (2018). Incidence of clinically suspected venous thromboembolism in British Indian patients. Annals of the Royal College of Surgeons of England. 100:413-416.

Turetz M, Sideris AT, Friedman OA, Triphathi N, Horowitz JM. (2018). Epidemiology, pathophysiology, and natural history of pulmonary embolism. Seminar Interv Radiology.35(2):92-98. doi: 10.1055/s-0038-1642036.

Wendelboe AM, Raskob GE. (2018). Global burden of thrombosis: epidemiologic aspects of circulation. Respiration.118(9):1340-1347.

White AJ, Kanapathy M, Nikkhah D, Akhavani M (2021). Systematic review of the venous thromboembolism risk assessment models used in aesthetic plastic surgery. JPRAS Open. 30:116-127.

Wypasek E, Undas A (2018). Protein C and protein S deficiency – practical diagnostic issues. Advances in Clinical Experimental and Medicine. 22(4):459-467.

Yusuf HR, Reyes N, Zhang QC, Okoroh EM, Siddiqi AE, Tsai J (2013). Hospitalizations of adults >60 years of age with venous thromboembolism. Clinical Application of Thrombosis and Hemostasis. 27:41-59.

Zhang Y, Yang Y, Chen W, Liang L, Zhai Z, Guo L, et al. (2016). Hypertension associated with venous thromboembolism in patients with newly diagnosed lung cancer. Scientific Report. 6:19603.

Creative Commons-license

Det här verket är licensierat under en Creative Commons Erkännande 4.0 Internationell-licens.

Copyright (c) 2025 Nigerian Journal of Physiological Sciences