scholarly journals Factor V Leiden Thrombophilia in a Female Collegiate Soccer Athlete: A Case Report

2013 ◽  
Vol 48 (3) ◽  
pp. 431-435 ◽  
Author(s):  
Kendra Erickson ◽  
Michael E. Powers
Keyword(s):  
Emergency Department ◽  
Pulmonary Embolism ◽  
Venous Thromboembolism ◽  
Anticoagulant Therapy ◽  
Athletic Trainers ◽  
Factor V Leiden ◽  
Genetic Mutation ◽  
Factor V ◽  
Care Providers ◽  
Factor V Leiden Mutation

Objective: To raise awareness among health care providers caring for an active population to an uncommon genetic mutation that increases the risk for a potentially fatal venous thromboembolism. Background: A 19-year-old previously healthy female collegiate soccer athlete complained of coughing and progressively decreased exercise tolerance, which were attributed to a recent illness and lack of sleep. Later that evening, she complained of dyspnea and pleuritic pain and was referred to the emergency department. Bilateral pulmonary emboli were identified with computed tomography, and a hypercoagulable panel revealed that the patient was heterozygous for the factor V Leiden mutation. Differential Diagnosis: Pneumonia, pneumothorax, pericarditis, pleuritis, gastroesophageal reflux disease, pulmonary embolism. Treatment: Intravenous heparin therapy was initiated immediately in the emergency department. This was followed by inpatient anticoagulant therapy for 5 days and outpatient anticoagulant therapy for an additional 12 months. During this time, the patient was unable to participate in soccer drills or return to competition and was limited to conditioning activities due to the risk of increased bleeding time. Uniqueness: Documented cases of pulmonary embolism in a young athletic population are rare and are usually associated with genetic risk factors. Factor V Leiden is a relatively uncommon genetic mutation that dramatically increases the risk for venous thromboembolism. Although the fatality rate in this population is low, fatality is preventable if the condition is recognized early and managed properly. Conclusions: Athletes should be encouraged to communicate with their athletic trainers regarding any changes in health status or medication usage. When an athlete presents with nonspecific symptoms such as dyspnea and chest pain, athletic trainers should consider the possibility of pulmonary embolism. A high degree of suspicion results in early diagnosis and treatment and may prevent a fatal event.

scholarly journals Delayed Pulmonary Embolism Following Achilles Tendon Repair

2014 ◽  
Vol 2 (11_suppl3) ◽  
pp. 2325967114S0022
Author(s):  
İlker Çolak ◽  
Engin Eceviz ◽  
Özgür Baysal ◽  
Halil İbrahim Bekler
Keyword(s):  
Emergency Department ◽  
Pulmonary Embolism ◽  
Venous Thromboembolism ◽  
Achilles Tendon ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Factor V Leiden ◽  
Heterozygous Mutation ◽  
Factor V ◽  
Dvt Prophylaxis

Objectives: It is well known that venous thromboembolism is a common complication after lower limb injuries which requires long term immobilization, however venous thromboembolism prophylaxis after achilles tendon rupture is stil controversial. In this report our aim is to present a case of pulmonary embolism which developed 47 days after surgical repair of achilles tendon rupture and diagnosed factor V leiden heterozygous mutation. Methods: Case presentation: A 28 – years- old man was admitted to emergency department with left heel pain and he could not bear weight on it. Achilles tendon rupture was confirmed with physical examination and MRI and patient operated under the spinal anesthesia. Tendon was repaired with the modified Kesler technique. Patient was cast-immobilized and ambulating with crutches and rested for 47 days at home, when he was admitted to emergency department again with acute severe dyspnea, pain on right side, hemoptysis. There was no chronic disease history in in the patient´s anamnesis except migraine diagnosis. There were slight inspiratory rales in right lower lobe in auscultation of respiratuary system examination. Cardiovascular system and abdomen examination were normal. Plasma concentration of D-dimer was 1227 μg/mL in the laboratory evaluations. Patient was diagnosed pulmonary embolus (PE) by ventilation/perfusion lung scan. Result of detailed evaluation, genetic analysis showed that patient has factor V leiden heterozygous mutation. Patient hospitalized in Department of Chest Diseases and low-molecular-weight heparin was used to treat and 5 mg orally Warfarin was used for six months. Results: Conclusion: The incidence of deep venus thrombosis (DVT) and PE after Achilles tendon rupture were highly variable in the literature. This could depend on different designs used in studies. The most recent antihrombotic guidelines suggested no DVT prophylaxis for this type injuries. Existing orthopaedic guidelines does not provide optimal DVT/PE prophylaxis for injuries under the knee requires immobilization. Further research is needed to investigate the benefits of DVT prophylaxis on patients following Achilles tendon rupture.

Varicella Infection May Cause Thrombosis: A Case Report

2018 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Pulmonary Embolism ◽  
Anticoagulant Therapy ◽  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Skin Lesions ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Varicella Zoster

This case was presented due to development of DVT and pulmonary embolism after VZV infection and determination of Factor V Leiden mutation and activated protein C resistance. A 19-year old male patient presented with fever at the 10th day of varicella zoster virus (VZV) infection, and pruritic vesicopustular skin lesions and increased leukocyte and CRP levels. Acyclovir and ampicillin-sulbactam therapy were started. On the fourth day of hospitalization, left leg DVT and pulmonary embolism developed. Anticoagulant therapy was started. Tests revealed activated protein C resistance and Factor V Leiden mutation. The patient was discharged after the relief of symptoms with anticoagulant therapy. Thrombosis rarely develops in the course of VZV infection. It is essential to investigate the factors contributing to predisposition to thrombosis in patients with thrombosis.

scholarly journals Risk Factor Profiles in Patients with Different Clinical Manifestations of Venous Thromboembolism: A Focus on the Factor V Leiden Mutation

1996 ◽  
Vol 76 (04) ◽  
pp. 510-513 ◽  
Author(s):  
Bert Manten ◽  
Rudi G J Westendorp ◽  
Ted Koster ◽  
Pieter H Reitsma ◽  
Frits R Rosendaal
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Deep Vein

Summary Background. Patients with venous thromboembolic disease may present with different clinical manifestations. Factor V Leiden mutation leading to resistance to activated protein C is associated with a sevenfold increased risk for presenting with deep-vein thrombosis. It is not yet established whether carriers of the mutation have a similarly increased risk for manifesting with pulmonary embolism. Methods. From an Anticoagulation Clinic monitoring coumarin therapy, a consecutive series of patients with a first thromboembolic event (objectively proven by current radiological methods) were enrolled. All patients were interviewed and blood was drawn for geno-typing. From the hospital charts and the personal interview, information was obtained on acquired risk factors and the signs and symptoms on hospital admission. Results. 45 patients presented with symptoms of pulmonary embolism only, 211 had only symptoms of deep-vein thrombosis whereas 23 had clinical features of both. In about half of the patients acquired risk factors for venous thromboembolism were present which did not differ between the three groups of patients. Recent surgery had been performed more often in patients presenting with pulmonary embolism than in other patients (33.3% vs. 18.5%, p <0,05). Factor V Leiden was present in 9% of the patients presenting with pulmonary embolism (relative risk: 3.3 95% Cl: 1.0-10.6) and 17% of the patients presenting with deep-vein thrombosis (relative risk: 6.9 95% Cl: 3.6-12.8). The prevalence of factor V Leiden was intermediate in patients with both clinical characteristics. Conclusion. These data suggest that patients with venous thromboembolism have different clinical presentation depending on the risk factor profile. Factor V Leiden may preferentially lead to manifest deep-vein thrombosis. Differences in structure of venous thrombi could underlie differences in embolic tendency.

Is the Prevalence of the Factor V Leiden Mutation in Patients with Pulmonary Embolism and Deep Vein Thrombosis Really Different?

1999 ◽  
Vol 81 (03) ◽  
pp. 345-348 ◽  
Author(s):  
Rosa Karemaker ◽  
Philomeen Kuijer ◽  
Martin Prins ◽  
Harry Büller ◽  
Franktien Turkstra
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Venous Thromboembolism ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
Common Odds Ratio ◽  
Deep Vein

Summary Introduction. Previous investigations have suggested a lower prevalence of the factor V Leiden mutation in patients with pulmonary embolism, as compared to patients with deep leg vein thrombosis. Methods. We studied unselected patients with pulmonary embolism, in whom we also assessed the presence of deep vein thrombosis by ultra-sonography. We assessed the prevalence of heterozygosity for the factor V Leiden mutation and compared the outcome of patients with a normal ultrasound (primary pulmonary embolism) to those with an abnormal ultrasound (combined form of venous thromboembolism). Furthermore, we performed a literature search to identify all articles regarding the prevalence of heterozygous factor V Leiden mutation in patients with primary deep vein thrombosis, primary pulmonary embolism and a combined form of venous thromboembolism. We calculated a (common) odds ratio for these 3 manifestations of venous thromboembolism, including the current findings. Results. In 92 patients with proven pulmonary embolism, 25 (27%) had also an abnormal ultrasound. In these patients, the prevalence of the factor V Leiden mutation was 24% (95% CI 9%-45%), whereas the mutation was present in 5 of 67 patients with primary pulmonary embolism (7%; 95% CI 2%-16%). The literature analysis indicated the common odds ratio for the presence of heterozygous factor V Leiden mutation in patients with primary deep vein thrombosis, primary pulmonary embolism and the combined form of venous thromboembolism to be 7.9 (95% CI 5-12), 3.5 (95% CI 2-6) and 6.8 (95% CI 3-14), respectively. Conclusion. In patients with primary pulmonary embolism the prevalence of the factor V Leiden mutation appears to be half of that reported in patients with primary deep vein thrombosis. The mechanism remains unclear.

Factor V Leiden mutation and pregnancy-related venous thromboembolism: What is the exact risk?

2006 ◽  
Vol 96 (07) ◽  
pp. 14-18 ◽  
Author(s):  
Jean-Francois Schved ◽  
Jean-Pierre Daures ◽  
Christine Biron-Andreani
Keyword(s):  
Venous Thromboembolism ◽  
Meta Analysis ◽  
Random Effect ◽  
Factor V Leiden ◽  
Significant Heterogeneity ◽  
Average Risk ◽  
Factor V ◽  
Case Control Studies ◽  
Factor V Leiden Mutation ◽  
Statistical Heterogeneity

SummaryThe magnitude of the association of factor V Leiden mutation with pregnancy-related venous thrombosis remains unclear. Our objective was to undertake a systematic review and a meta-analysis of the literature to estimate precisely the association of factor V Leiden mutation with the risk of first,or recurrent,pregnancy-related venous thromboembolism. Studies published before October 2005 were identified by Medline®. Using both fixed and random effect models, odds ratios (OR) with accompanying 95% confidential intervals (CI) were calculated for the factor V Leiden mutation and the clinical end-point (Yusuf-Peto adaptation of the Mantel-Haenszel, DerSimonian and Laird method).We identified 13 studies including 7 cohorts and 6 case control studies relating to factor V Leiden and pregnancy-related venous thrombosis.The results from the cohorts showe a pooled OR of 4.46 (95% CI,1.82–10.94;7,879 pooled women), with no evidence of statistical heterogeneity (p=0.36), for the risk of a first venous thromboembolism during pregnancy or the postpartum period associated with the factor V Leiden mutation.Case-control studies revealed a higher risk ( OR 8.6,95% CI, 5.85–12.63; 1,524 pooled women) with significant heterogeneity (p<0.005). Because of insufficient data, an analysis for the risk of recurrence could not be performed. Our findings emphasize the fact that limited data are available on this topic.This meta-analysis provides clinicians with an estimate of the average risk of a first thrombosis occurring during pregnancy in women carrying the factor V Leiden to assist the management of such women.

Factor V Leiden (G1691A) and Prothrombin Gene G20210A Mutations as Potential Risk Factors for Venous Thromboembolism after Total Hip or Total Knee Replacement Surgery

2002 ◽  
Vol 87 (04) ◽  
pp. 580-585 ◽  
Author(s):  
G. Larson ◽  
T. L. Lindahl ◽  
C. Andersson ◽  
L. Frison ◽  
D. Gustafsson ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Factor V Leiden ◽  
Composite Endpoint ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
G20210a Mutation ◽  
Symptomatic Pulmonary Embolism ◽  
Increased Risk ◽  
Prothrombin Gene

SummaryPatients (n = 1600) from 12 European countries, scheduled for elective orthopaedic hip or knee surgery, were screened for Factor V Leiden and prothrombin gene G20210A mutations, found in 5.5% and 2.9% of the populations, respectively. All patients underwent prophylactic treatment with one of four doses of melagatran and ximelagatran or dalteparin, starting pre-operatively. Bilateral ascending venography was performed on study day 8-11. The patients were subsequently treated according to local routines and followed for 4-6 weeks postoperatively. The composite endpoint of screened deep vein thrombosis (DVT) and symptomatic pulmonary embolism (PE) during prophylaxis did not differ significantly between patients with or without these mutations. Symptomatic venous thromboembolism (VTE) during prophylaxis and follow-up (1.9%) was significantly over-represented among patients with the prothrombin gene G20210A mutation (p = 0.0002). A tendency towards increased risk of VTE was found with the Factor V Leiden mutation (p = 0.09). PE were few, but significantly over-represented in both the Factor V Leiden and prothrombin gene G20210A mutated patients (p = 0.03 and p = 0.05, respectively). However, since 90% of the patients with these genetic risk factors will not suffer a VTE event, a general pre-operative genotyping is, in our opinion, of questionable value.

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