Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study

Background. Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of...

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Autores principales: Maria Khan, Chaudhry Altaf, Hamid Saeed Malik, Muhammad Abdul Naeem, Aamna Latif
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Publicado: Hindawi Limited 2021
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spelling oai:doaj.org-article:42bc8baf3ae74c139ed87eacbb2c3e6b2021-11-08T02:36:52ZHeritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study1687-911210.1155/2021/8317605https://doaj.org/article/42bc8baf3ae74c139ed87eacbb2c3e6b2021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/8317605https://doaj.org/toc/1687-9112Background. Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. In view of this, we have evaluated all patients with venous thromboembolism for inherited thrombophilia. Objective. To evaluate the frequencies of antithrombin (AT) deficiency, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations in patients harboring venous thromboembolism. Materials and Methods. A study comprising of 880 patients who were presented with manifestations of venous thromboembolism was conducted from July 2016 to June 2017. A blood sample collected from patients was screened for thrombophilia defects encompassing AT, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations. All acquired causes of thrombosis were excluded. Results. Of 880 patients who underwent screening for thrombophilia, 182 patients demonstrated VTE history. Their age ranged from 1 to 58 years. Males constituted a predominant group. About 45 (24.7%) patients had evidence of heritable thrombophilia. Of these, 20 (10.9%) had AT deficiency, 9 (4.9%) had Factor V Leiden mutation, 6 (3.2%) had protein C deficiency, whereas protein S deficiency and prothrombin gene mutation both were found in 5 (2.7%) patients. Conclusion. Our study illustrated the highest frequency of antithrombin deficiency among other investigated thrombophilia defects.Maria KhanChaudhry AltafHamid Saeed MalikMuhammad Abdul NaeemAamna LatifHindawi LimitedarticleDiseases of the blood and blood-forming organsRC633-647.5ENAdvances in Hematology, Vol 2021 (2021)
institution DOAJ
collection DOAJ
language EN
topic Diseases of the blood and blood-forming organs
RC633-647.5
spellingShingle Diseases of the blood and blood-forming organs
RC633-647.5
Maria Khan
Chaudhry Altaf
Hamid Saeed Malik
Muhammad Abdul Naeem
Aamna Latif
Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
description Background. Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. In view of this, we have evaluated all patients with venous thromboembolism for inherited thrombophilia. Objective. To evaluate the frequencies of antithrombin (AT) deficiency, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations in patients harboring venous thromboembolism. Materials and Methods. A study comprising of 880 patients who were presented with manifestations of venous thromboembolism was conducted from July 2016 to June 2017. A blood sample collected from patients was screened for thrombophilia defects encompassing AT, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations. All acquired causes of thrombosis were excluded. Results. Of 880 patients who underwent screening for thrombophilia, 182 patients demonstrated VTE history. Their age ranged from 1 to 58 years. Males constituted a predominant group. About 45 (24.7%) patients had evidence of heritable thrombophilia. Of these, 20 (10.9%) had AT deficiency, 9 (4.9%) had Factor V Leiden mutation, 6 (3.2%) had protein C deficiency, whereas protein S deficiency and prothrombin gene mutation both were found in 5 (2.7%) patients. Conclusion. Our study illustrated the highest frequency of antithrombin deficiency among other investigated thrombophilia defects.
format article
author Maria Khan
Chaudhry Altaf
Hamid Saeed Malik
Muhammad Abdul Naeem
Aamna Latif
author_facet Maria Khan
Chaudhry Altaf
Hamid Saeed Malik
Muhammad Abdul Naeem
Aamna Latif
author_sort Maria Khan
title Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
title_short Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
title_full Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
title_fullStr Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
title_full_unstemmed Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study
title_sort heritable thrombophilia in venous thromboembolism in northern pakistan: a cross-sectional study
publisher Hindawi Limited
publishDate 2021
url https://doaj.org/article/42bc8baf3ae74c139ed87eacbb2c3e6b
work_keys_str_mv AT mariakhan heritablethrombophiliainvenousthromboembolisminnorthernpakistanacrosssectionalstudy
AT chaudhryaltaf heritablethrombophiliainvenousthromboembolisminnorthernpakistanacrosssectionalstudy
AT hamidsaeedmalik heritablethrombophiliainvenousthromboembolisminnorthernpakistanacrosssectionalstudy
AT muhammadabdulnaeem heritablethrombophiliainvenousthromboembolisminnorthernpakistanacrosssectionalstudy
AT aamnalatif heritablethrombophiliainvenousthromboembolisminnorthernpakistanacrosssectionalstudy
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