Inherited thrombophilia and risk factor interactions in a multigenerational Libyan family with deep vein thrombosis

Deep vein thrombosis (DVT) is a major vascular disorder with significant morbidity and mortality. Inherited thrombophilia defects and acquired risk factors both contribute to its pathogenesis. Familial clustering suggests a strong genetic component, but data from Libyan families are limited. This study aimed to investigate inherited and acquired risk factors for DVT in a multigenerational Libyan family with a history of venous thrombosis. We recruited 10 family members: four symptomatic individuals, three asymptomatic individuals, and three controls. The index case had heterozygous factor V Leiden. We analyzed blood samples collected between October 2024 and January 2025 for fibrinogen, factor V, factor VIII, protein C, protein S, D-dimer, and complete blood count parameters. Body mass index and smoking status were also recorded. Factor V deficiency and elevated factor VIII were each observed in 6/10 participants. Elevated factor VIII was present in all four symptomatic patients. Fibrinogen was elevated in 2/10 participants, both asymptomatic. Protein C deficiency was found in 2/10 participants, and Protein S deficiency in; all were symptomatic. D-dimer was elevated in only one symptomatic patient. Obesity was present in 8/10 participants, and smoking in 3/10, all of whom were symptomatic males. However, between-group comparisons did not reach the significance level. These preliminary findings suggest that inherited thrombophilia factors, particularly factor V deficiency and elevated factor VIII, may contribute to DVT susceptibility in this family, with modifiable risk factors possibly acting as triggers.

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Publication Details

Journal
Mediterranean Journal of pharmacy and Pharmaceutical Sciences
Published
2026-11-06
DOI
https://doi.org/10.5281/zenodo.24005125
Primary Topic
Blood Coagulation and Thrombosis Mechanisms
Type
article
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article

Inherited thrombophilia and risk factor interactions in a multigenerational Libyan family with deep vein thrombosis

Masoud Aml M.
Mediterranean Journal of pharmacy and Pharmaceutical Sciences
Blood Coagulation and Thrombosis Mechanisms
article

Inherited thrombophilia and risk factor interactions in a multigenerational Libyan family with deep vein thrombosis

Masoud Aml M.
article en

Abstract

Deep vein thrombosis (DVT) is a major vascular disorder with significant morbidity and mortality. Inherited thrombophilia defects and acquired risk factors both contribute to its pathogenesis. Familial clustering suggests a strong genetic component, but data from Libyan families are limited. This study aimed to investigate inherited and acquired risk factors for DVT in a multigenerational Libyan family with a history of venous thrombosis. We recruited 10 family members: four symptomatic individuals, three asymptomatic individuals, and three controls. The index case had heterozygous factor V Leiden. We analyzed blood samples collected between October 2024 and January 2025 for fibrinogen, factor V, factor VIII, protein C, protein S, D-dimer, and complete blood count parameters. Body mass index and smoking status were also recorded. Factor V deficiency and elevated factor VIII were each observed in 6/10 participants. Elevated factor VIII was present in all four symptomatic patients. Fibrinogen was elevated in 2/10 participants, both asymptomatic. Protein C deficiency was found in 2/10 participants, and Protein S deficiency in; all were symptomatic. D-dimer was elevated in only one symptomatic patient. Obesity was present in 8/10 participants, and smoking in 3/10, all of whom were symptomatic males. However, between-group comparisons did not reach the significance level. These preliminary findings suggest that inherited thrombophilia factors, particularly factor V deficiency and elevated factor VIII, may contribute to DVT susceptibility in this family, with modifiable risk factors possibly acting as triggers.

Mediterranean Journal of pharmacy and Pharmaceutical Sciences
University of Tripoli (LY)
Good health and well-being
Openalex Percentile: Top 13%
Blood Coagulation and Thrombosis Mechanisms
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