Talks
Presenting Author Academic/Professional Position
Resident
Academic Level (Author 1)
Resident
Discipline/Specialty (Author 1)
Internal Medicine
Academic Level (Author 2)
Resident
Discipline/Specialty (Author 2)
Internal Medicine
Academic Level (Author 3)
Resident
Discipline/Specialty (Author 3)
Internal Medicine
Academic Level (Author 4)
Resident
Discipline/Specialty (Author 4)
Internal Medicine
Academic Level (Author 5)
Resident
Discipline/Specialty (Author 5)
Internal Medicine
Presentation Type
Oral Presentation
Discipline Track
Patient Care
Abstract Type
Case Report
Abstract
Background: Recurrent venous thromboembolism (VTE) causes a substantial burden, particularly when the cause is unclear. Traditionally VTE risks include older age, immobilization, obesity, and malignancy. When VTE recurs in a young patient without these traditional factors, genetics must be considered. Of the inherited thrombophilias, Factor V Leiden (FVL) is the most common. Normally, activated factor V combines with factor X to produce thrombin, leading to clot formation. This process is regulated by activated protein C (APC), which inactivates factor V to stop coagulation. FVL is a single-base point mutation at one of the APC cleavage sites on Factor Va and results in a Factor V resistant to cleavage by APC, creating a prothrombotic state. FVL is an autosomal dominant condition, with a prevalence of 5.2% in Caucasians, 2.2% in Hispanic Americans, and 0.85% in the Mexican population. This case involves a young Hispanic male whose diagnosis was only discovered after multiple hospitalizations and interventions.
Case Presentation: A 38-year-old Hispanic male presented with SOB and RLE swelling and tenderness. CTA chest was negative for PE. Venous doppler revealed multiple noncompressible thrombi in the right femoral, popliteal, and peroneal veins. Three months prior, he had been hospitalized for RLE swelling and diagnosed with deep vein thrombosis (DVT). He underwent thrombectomy due to iliofemoral extension and was treated with apixaban. After developing recurrent DVT, his cardiologist switched him to rivaroxaban, suspecting apixaban resistance, though the patient had missed two doses. He worked as a driver, but his longest trips were 2 hours maximum with frequent breaks. His brother was also recently diagnosed with DVT. Hypercoagulable workup revealed a positive single heterozygous mutation (R506Q) in the factor V gene. He was transferred to another facility for high-pressure balloon angioplasty with instructions for follow-up care from his cardiologist and hematologist.
Conclusions: This case highlights a unique presentation of FVL. The patient’s only apparent risk factor was his occupation, but missing two doses of apixaban was a contributing factor to his recurrent DVT. Screening for FVL is not recommended for the general population, but in young patients with a family history of VTE, it is warranted Heterozygous FVL patients have a 1.4-fold higher lifetime risk of VTE compared to the general population. Missing even just one or two doses of a DOAC in a patient with FVL can lead to severe outcomes like hospitalization for DVT. Early screening helps guide clinical decisions, such as avoiding contraceptives in women of childbearing age and ensuring adequate DVT periprocedural prophylaxis.
Additionally, this patient’s Hispanic background provides another complicating factor as thrombophilia testing is not usually pursued until after multiple expensive interventions and hospitalizations. The medical and economic burden is significant, particularly for the RGV patient population who already face multiple barriers to healthcare access compared to the general U.S. population. This case contributes to understanding thrombophilias in the Hispanic population and calls for further research into optimal long-term management for these patients.
Recommended Citation
Pena, Alberto; Reinoso, Janetly; Salloum, Liza; Ngo, Khiem D.; Memon, Sobia; and Mora, Johanna, "When Two Doses Make All the Difference: The Case of Factor V Leiden in a Young Hispanic Male" (2025). Research Symposium. 1.
https://scholarworks.utrgv.edu/somrs/2025/talks/1
Included in
When Two Doses Make All the Difference: The Case of Factor V Leiden in a Young Hispanic Male
Background: Recurrent venous thromboembolism (VTE) causes a substantial burden, particularly when the cause is unclear. Traditionally VTE risks include older age, immobilization, obesity, and malignancy. When VTE recurs in a young patient without these traditional factors, genetics must be considered. Of the inherited thrombophilias, Factor V Leiden (FVL) is the most common. Normally, activated factor V combines with factor X to produce thrombin, leading to clot formation. This process is regulated by activated protein C (APC), which inactivates factor V to stop coagulation. FVL is a single-base point mutation at one of the APC cleavage sites on Factor Va and results in a Factor V resistant to cleavage by APC, creating a prothrombotic state. FVL is an autosomal dominant condition, with a prevalence of 5.2% in Caucasians, 2.2% in Hispanic Americans, and 0.85% in the Mexican population. This case involves a young Hispanic male whose diagnosis was only discovered after multiple hospitalizations and interventions.
Case Presentation: A 38-year-old Hispanic male presented with SOB and RLE swelling and tenderness. CTA chest was negative for PE. Venous doppler revealed multiple noncompressible thrombi in the right femoral, popliteal, and peroneal veins. Three months prior, he had been hospitalized for RLE swelling and diagnosed with deep vein thrombosis (DVT). He underwent thrombectomy due to iliofemoral extension and was treated with apixaban. After developing recurrent DVT, his cardiologist switched him to rivaroxaban, suspecting apixaban resistance, though the patient had missed two doses. He worked as a driver, but his longest trips were 2 hours maximum with frequent breaks. His brother was also recently diagnosed with DVT. Hypercoagulable workup revealed a positive single heterozygous mutation (R506Q) in the factor V gene. He was transferred to another facility for high-pressure balloon angioplasty with instructions for follow-up care from his cardiologist and hematologist.
Conclusions: This case highlights a unique presentation of FVL. The patient’s only apparent risk factor was his occupation, but missing two doses of apixaban was a contributing factor to his recurrent DVT. Screening for FVL is not recommended for the general population, but in young patients with a family history of VTE, it is warranted Heterozygous FVL patients have a 1.4-fold higher lifetime risk of VTE compared to the general population. Missing even just one or two doses of a DOAC in a patient with FVL can lead to severe outcomes like hospitalization for DVT. Early screening helps guide clinical decisions, such as avoiding contraceptives in women of childbearing age and ensuring adequate DVT periprocedural prophylaxis.
Additionally, this patient’s Hispanic background provides another complicating factor as thrombophilia testing is not usually pursued until after multiple expensive interventions and hospitalizations. The medical and economic burden is significant, particularly for the RGV patient population who already face multiple barriers to healthcare access compared to the general U.S. population. This case contributes to understanding thrombophilias in the Hispanic population and calls for further research into optimal long-term management for these patients.
