scholarly journals Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism

TH Open ◽  
2020 ◽  
Vol 04 (03) ◽  
pp. e153-e162
Author(s):  
Manila Gaddh ◽  
En Cheng ◽  
Maha A.T. Elsebaie ◽  
Imre Bodó
Keyword(s):  
Venous Thromboembolism ◽  
Patient Management ◽  
Clinical Decision Making ◽  
Factor V Leiden ◽  
Direct Costs ◽  
Cost Of Care ◽  
Factor V ◽  
Test Results ◽  
Thrombophilia Testing ◽  
The Impact

Abstract Introduction Testing for inherited and acquired thrombophilias adds to the cost of care of patients with venous thromboembolism (VTE), though results may not influence patient management. Methods This is a single-center, retrospective study conducted at Emory University Hospitals from January to December 2015 to (1) determine the pattern of thrombophilia testing in patients with VTE, (2) study the impact of results of thrombophilia testing on clinical decision-making, and (3) determine the direct costs of thrombophilia testing in patients with VTE. Results Of the 266 eligible patients, 189 (71%) underwent testing; 51 (26.9%) tested positive and the results impacted management in 32 (16.9%) of tested patients. Patient undergoing testing were more likely to be younger than 40 years (30.9 vs. 18.2%), have had prior pregnancy loss (9.0 vs. 0%), or known family history of hypercoagulability (24.9 vs. 10.4%), and were less likely to have had provoked VTE (37 vs. 79.2%). The most common thrombophilias tested were antiphospholipid syndrome (60.1%), factor V Leiden (59.7%), and prothrombin gene mutation (57.5%). Direct costs of thrombophilia testing were $2,364.32 per patient, $12,331.55 to diagnose 1 positive, and $19,653.41 per patient-management affected. Conclusion We noted significant variability in selection of patients and panel of tests, sparse utilization of test results in patient management, but high cost associated with thrombophilia testing in patients with VTE. With guidelines advocating selective use of thrombophilia testing and attention to potential impact of test results in patient management, we propose the need for measures at institutional levels to improve test-ordering practices.

Factor V Leiden Mutation Increases the Risk of Venous Thromboembolism in Cancer Patients – Results From the Vienna Cancer and Thrombosis Study (CATS).

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 2253-2253
Author(s):  
Ingrid Pabinger ◽  
Cihan Ay ◽  
Daniela Dunkler ◽  
Johannes Thaler ◽  
Eva-Maria Reitter ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Cancer Patients ◽  
Factor V Leiden ◽  
Treatment Modalities ◽  
Individual Risk ◽  
Factor V ◽  
Newly Diagnosed ◽  
Factor V Leiden Mutation ◽  
Increased Risk ◽  
The Impact

Abstract Abstract 2253 Background: Patients with cancer are at an increased risk of venous thromboembolism (VTE). The risk varies markedly in different patient populations and improvement of the prediction of VTE would be of advantage for tailoring thrombosis prophylaxis. Factor V Leiden is the most common genetic risk factor for VTE and the impact of factor V Leiden on cancer-associated thrombosis is not yet fully elucidated. Objective: To study the impact of factor V Leiden on the risk of VTE in cancer patients. Patients and Methods: Nine-hundred-eighty-two patients with newly diagnosed cancer (n=745) or progression of disease after complete or partial remission (n=237) were included in the cancer and thrombosis study (CATS), a prospective observational single centre cohort study at the Medical University Vienna. Patients were followed for a maximum period of 2 years. Blood samples were collected at inclusion and factor V Leiden was determined by genotyping. The main outcome measure was symptomatic or lethal objectively confirmed VTE. All VTE events were adjudicated independently. Results: Of the 982 patients (median age 62 years, interquartile range (IQR) 52–68, 537 men, 445 women) factor V-Leiden was found in 72 (7.3%), 70 had a heterozygous and two a homozygous genotype. Ten of 72 (14%) patients with factor V-Leiden developed VTE, whereas this was the case in 69 of 910 (7.6%) patients without factor V-Leiden. Interestingly, both patients with homozygous factor V Leiden developed VTE. In multivariable analysis that included age, sex, different tumour types, newly diagnosed versus recurrence of disease and the treatment modalities (chemotherapy, radiotherapy and surgery) the hazard ratio (HR) for factor V Leiden was 2.04 (95% confidence interval (CI) 1.04–3.97)). In patients with newly diagnosed tumours the HR for factor V Leiden was 3.7 (95% CI 1.2–12.2) after 30 days. In Kaplan Meier analysis the probability for development of VTE after 6 months was 5.7% in those without and 13% in those with factor V Leiden, after one year the corresponding rates were 7.3% and 15%. Conclusions: Factor V Leiden is a genetically determined and thus disease-independent parameter, which is associated with VTE in cancer patients, especially shortly after cancer diagnosis, and could therefore be used for individual risk assignment. Disclosures: No relevant conflicts of interest to declare.

scholarly journals The Impact of Multiple Risk Factors for Venous Thromboembolism and Its Implications for Management

2019 ◽  
Vol 6 ◽  
pp. 2333794X1985916
Author(s):  
Anil P. George ◽  
Paul Kent
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Pediatric Patients ◽  
Assessment Tool ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Multiple Risk Factors ◽  
Multiple Risk ◽  
The Impact

Venous thromboembolism (VTE) is a rare multifactorial disorder in childhood with an annual incidence of about 0.07 to 0.14 per 10 000 children. A 15-year-old female with a body mass index of 48 kg/m2 who endorsed oral contraceptive use presented with clinical findings consistent with deep venous thrombosis along with the presence of a pulmonary embolism. Further workup revealed that the patient was heterozygous for factor V Leiden and homozygous for prothrombin G20210A mutations. There are no current pediatric guidelines for the antithrombotic management of patients with multiple risk factors for VTE. Two such risk factors, obesity and the use of estrogen-containing hormone contraceptives, have been implicated in adult VTE cases but have not been clearly delineated in pediatric patients. The need for guidance regarding the VTE management of these patients has become more apparent given the increasing incidence of childhood obesity and the number of adolescents using oral contraceptives. Additionally, thrombophilia testing remains controversial though testing may be indicated in asymptomatic first-degree relatives and in families with antithrombin, protein C, or protein S deficiencies. Given the increased incidence of multiple risk factors for VTE, there is also a need to develop a comprehensive risk assessment tool for pediatric patients at high risk of VTE.

Haemostaseome-associated SNPs: has the thrombotic phenotype a greater influence than ethnicity?

2015 ◽  
Vol 113 (01) ◽  
pp. 66-76 ◽  
Author(s):  
Sylvie Labrouche ◽  
Christophe Hubert ◽  
Frédéric Bauduer ◽  
Geneviève Freyburger
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Genetic Markers ◽  
Factor V Leiden ◽  
Significant Snps ◽  
Low Risk ◽  
Coagulation System ◽  
Factor V ◽  
Wide Range ◽  
The Impact

SummaryThe Genetic Markers for Thrombosis (GMT) study compared the relative influence of ethnicity and thrombotic phenotype regarding the distribution of SNPs implicated in haemostasis pathophysiology (“haemostaseome”). We assessed 384 SNPs in three groups, each of 480 subjects: 1) general population of Aquitaine region (Southwestern France) used as control; 2) patients with venous thromboembolism from the same area; and 3) autochthonous Basques, a genetic isolate, who demonstrate unusual characteristics regarding the coagulation system. This study sought to evaluate i) the value of looking for a large number of genes in order to identify new genetic markers of thrombosis, ii) the value of investigating low risk factors and potential preferential associations, iii) the impact of ethnicity on the characterisation of markers for thrombosis. We did not detect any previously unrecognised SNP significantly associated with thrombosis risk or any preferential associations of low-risk factors in patients with thrombosis. The sum of ϰ2 values for our 110 significant SNPs demonstrated a smaller genetic distance between patients and controls (321 cumulated ϰ2 value) than between Basques and controls (1,570 cumulated ϰ2 value). Hence, our study confirms the genetic particularity of Basques especially regarding a significantly lower expression of the non-O blood group (p< 0.0004). This is mitigated by a higher prevalence of factor II Leiden (p< 0.02) while factor V Leiden prevalence does not differ. Numerous other differences covering a wide range of proteins of the haemostaseome may result in an overall different genetic risk for venous thromboembolism.

Hypercoagulability: Too Many Tests, Too Much Conflicting Data

Hematology ◽  
2002 ◽  
Vol 2002 (1) ◽  
pp. 353-368 ◽  
Author(s):  
Kenneth A. Bauer ◽  
Frits R. Rosendaal ◽  
John A. Heit
Keyword(s):  
Risk Factors ◽  
Patient Management ◽  
Clinical Decision Making ◽  
Thrombotic Event ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Case Control Studies ◽  
Thrombotic Risk ◽  
Laboratory Test Results ◽  
The Impact

Abstract It is now possible to identify hereditary and acquired risk factors in a substantial percentage of patients presenting with a venous thrombotic event. The clinician is faced with an ever-growing number of laboratory tests that can be ordered in such patients, and there is considerable uncertainty as to how this information should be utilized in patient management. Some have argued that widespread testing of thrombosis patients for prothrombotic abnormalities such as the factor V Leiden and prothrombin G20210A mutations has been prematurely adopted into clinical practice as there are few data that their identification leads to improved clinical outcomes. Dr. Rosendaal provides an overview of the epidemiology of venous thrombosis with an emphasis on hereditary and acquired risk factors. The presentation will include information obtained from properly designed case-control studies as well as family studies. While some have suggested treatment strategies for managing patients with hereditary thrombophilia with prior thrombotic events or for managing patients undergoing procedures associated with increased thrombotic risk, clinical decision making is complicated by the need to assess the risk of recurrence and the likely benefit of prolonged anticoagulation versus the associated bleeding risk. Drs. Bauer, Heit, and Rosendaal discuss their approaches to patient management. Case presentations are used to illustrate the impact of laboratory test results on decisions.

Heritable and Acquired Thrombophilias in Clinical Practice

2019 ◽  
Author(s):  
Hanny Al-Samkari ◽  
Nathan T. Connell
Keyword(s):  
Clinical Practice ◽  
Venous Thromboembolism ◽  
Gene Mutation ◽  
Protein C ◽  
Factor V Leiden ◽  
Protein S ◽  
Antiphospholipid Antibody ◽  
Antiphospholipid Antibody Syndrome ◽  
Factor V ◽  
Thrombophilia Testing

Thrombosis is common in clinical practice. Venous thromboembolism in particular raises questions of a possible underlying hereditary or acquired thrombophilic state. Despite considerable data describing the impact of various thrombophilic states on risks of initial and recurrent thromboembolic events, thrombophilia testing is not standardized. An understanding of the utility and pitfalls of clinical thrombophilia testing is necessary to employ this testing properly. When utilized appropriately, thrombophilia testing can be vital in informing an individual patient’s thrombosis risk and pursuing optimal anticoagulant management. Hereditary thrombophilia testing involves investigation for factor V Leiden, the prothrombin G202010A gene mutation, and deficiencies of the natural anticoagulants protein C, protein S, and antithrombin. Assessment for acquired thrombophilias is perhaps even more important, recognizing the possibility for myeloproliferative neoplasms, antiphospholipid antibody syndrome, occult malignancy and other important acquired thrombotic predispositions. Timing of thrombophilia testing in relation to anticoagulation, acute thrombosis, and use of hormonal agents or pregnancy is critical to ensure accurate diagnosis. This review describes each of the most important hereditary and acquired thrombophilias, explains their relationship to venous and arterial thrombosis, delineates evidence-based indications for thrombophilia testing, identifies potential testing pitfalls, and synthesizes the key points in outlining algorithms for thrombophilia testing in clinical practice. This review contains 4 figures, 4 tables, and 48 references. Key words: thrombophilia, venous thromboembolism, pulmonary embolus, deep vein thrombosis, factor V Leiden, prothrombin gene mutation, protein C deficiency, protein S deficiency, antiphospholipid antibody syndrome, hypercoagulability of malignancy

Heritable and Acquired Thrombophilias in Clinical Practice

2019 ◽  
Author(s):  
Hanny Al-Samkari ◽  
Nathan T. Connell
Keyword(s):  
Clinical Practice ◽  
Venous Thromboembolism ◽  
Gene Mutation ◽  
Protein C ◽  
Factor V Leiden ◽  
Protein S ◽  
Antiphospholipid Antibody ◽  
Antiphospholipid Antibody Syndrome ◽  
Factor V ◽  
Thrombophilia Testing

Thrombosis is common in clinical practice. Venous thromboembolism in particular raises questions of a possible underlying hereditary or acquired thrombophilic state. Despite considerable data describing the impact of various thrombophilic states on risks of initial and recurrent thromboembolic events, thrombophilia testing is not standardized. An understanding of the utility and pitfalls of clinical thrombophilia testing is necessary to employ this testing properly. When utilized appropriately, thrombophilia testing can be vital in informing an individual patient’s thrombosis risk and pursuing optimal anticoagulant management. Hereditary thrombophilia testing involves investigation for factor V Leiden, the prothrombin G202010A gene mutation, and deficiencies of the natural anticoagulants protein C, protein S, and antithrombin. Assessment for acquired thrombophilias is perhaps even more important, recognizing the possibility for myeloproliferative neoplasms, antiphospholipid antibody syndrome, occult malignancy and other important acquired thrombotic predispositions. Timing of thrombophilia testing in relation to anticoagulation, acute thrombosis, and use of hormonal agents or pregnancy is critical to ensure accurate diagnosis. This review describes each of the most important hereditary and acquired thrombophilias, explains their relationship to venous and arterial thrombosis, delineates evidence-based indications for thrombophilia testing, identifies potential testing pitfalls, and synthesizes the key points in outlining algorithms for thrombophilia testing in clinical practice. This review contains 4 figures, 4 tables, and 48 references. Key words: thrombophilia, venous thromboembolism, pulmonary embolus, deep vein thrombosis, factor V Leiden, prothrombin gene mutation, protein C deficiency, protein S deficiency, antiphospholipid antibody syndrome, hypercoagulability of malignancy

The Impact of Dalteparin (Fragmin®) on Thrombin Generation in Pregnant Women with Venous Thromboembolism: Significance of the Factor V Leiden Mutation

2001 ◽  
Vol 85 (05) ◽  
pp. 782-786 ◽  
Author(s):  
Edda Eberl ◽  
Ulrich Geisen ◽  
Ralf Grossmann ◽  
Franz Keller ◽  
Schambeck Christian
Keyword(s):  
Venous Thromboembolism ◽  
Pregnant Women ◽  
Thrombin Generation ◽  
Clinical Signs ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Asymptomatic Patients ◽  
The Impact ◽  
Fvl Mutation

SummaryHypercoagulability is observed in patients with inherited thrombophilia, e.g. factor V Leiden (FVL) mutation. Pregnancy represents a hypercoagulable state as well. This study addresses the effects of the FVL mutation on haemostatic activation during pregnancy as indicated by prothrombin fragments (F1+2). 233 pregnant women with no history of venous thromboembolism were studied. Additionally, two patient groups (25 pregnant FVL carriers and 36 pregnant women without thrombophilic diathesis) in whom low molecular weight heparin (dalteparin) was used prophylactically against rethrombosis were investigated.None of the women developed clinical signs of venous thromboembolism during pregnancy or after delivery. Untreated women exhibited substantial hypercoagulability. F1+2 levels were similar in FVL carriers and non-carriers (difference n. s.). After sufficient adjustment for anti-factor Xa activity (≥0.15; ≤0.4 U/mL), heparinized women without any thrombophilic diathesis had significantly lower levels of F1+2 than untreated pregnant women. This was evident only in the first and second trimenon (p <0.01). F1+2 levels in heparinized FVL carriers were quite similar to the levels observed in untreated pregnant women, however. In conclusion, our data support the thesis that in comparison to asymptomatic patients, thrombin generation is exaggerated in symptomatic FVL carriers. Coagulation activation during pregnancy can be reduced by dalteparin.

Current Practice of Testing for Hereditary Thrombophilia in the Netherlands.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3288-3288
Author(s):  
Michiel Coppens ◽  
Jan A. van Mourik ◽  
Carel M. Eckmann ◽  
Saskia Middeldorp
Keyword(s):  
Cardiovascular Disease ◽  
The Netherlands ◽  
General Practitioners ◽  
Pregnancy Complications ◽  
Current Practice ◽  
Factor V Leiden ◽  
Factor V ◽  
Test Results ◽  
Therapeutic Consequences ◽  
Thrombophilia Testing

Abstract Inherited thrombophilia is known to increase the risk for venous thromboembolism (VTE). Furthermore, an association between recurrent pregnancy loss and hypertensive pregnancy complications (including preeclampsia and HELLP syndrome) appears present. A relationship between thrombophilia and arterial cardiovascular disease could not be demonstrated in most studies. Since thrombophilia is prevalent in patients with VTE, testing for these abnormalities often reveals positive test results which may lead to widespread testing. This is also the case in patients with various other conditions. However, there is little convincing evidence about effectiveness of testing due to the uncertainty with respect to therapeutic consequences of a positive thrombophilia test results. To assess the current practice of thrombophilia testing in The Netherlands and to get an impression of the therapeutic implications of testing for patients, simple questionnaires were sent out to physicians that ordered tests for protein S, C, or antithrombin activity, factor V Leiden (or APC resistance) or the prothrombin 20210A mutation in 1998 consecutive individuals who were investigated between November 2003 and March 2004. The tests were performed in a laboratory that serves as a diagnostic facility for mainly non-academic hospitals and general practitioners throughout the Netherlands. Of a total of 1265 returned questionnaires, 1130 were suitable for analysis (response rate 63%). Of the tested individuals, 64% were female (median age 38 years, inter-quartile-range [IQR] 30–50) and 35% were male (median age 51, IQR 41–59). Tests were ordered by internists (37%), gynaecologists (20%), neurologists (15%) and general practitioners (13%). Only 42% of the tested individuals had experienced VTE, 23% arterial cardiovascular disease, and 17% had had pregnancy complications. A known carrier or VTE in the family was the reason for testing in 180 asymptomatic individuals (16%). Testing had had no therapeutic consequences in 869 tests (77%). In 32% of these patients, physicians stated that had the test revealed a thrombophilic defect, this would not have altered management of the patient. This study shows that testing for thrombophilia occurs very often in patients with various conditions. In the majority of cases, the results do not change therapeutic management of tested patients. Widespread thrombophilia testing is costly and may cause unnecessary concern in carriers. This study underscores the need to acquire high level evidence about its effectiveness that should include clinical outcomes as well as quality of life and costs.

Inpatient Thrombophilia Workup in Patients with Acute Venous Thromboembolism

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4720-4720
Author(s):  
Vivek Rashmikant Mehta ◽  
Uzma Khan ◽  
Aparna Basu ◽  
Asif Jan ◽  
Bolanie Gbadamosi ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Family History ◽  
Gene Mutation ◽  
Protein C ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Test Results ◽  
History Of ◽  
Acute Venous Thromboembolism

Abstract Background Any inherited or acquired condition that increases the risk of developing deep venous thrombosis or pulmonary embolism is considered a thrombophilic disorder. Some examples of inherited causes of thromboembolic disorders are Factor V Leiden mutation (FVL), Prothrombin gene mutation, Protein C deficiency (low or dysfunctional), Protein S deficiency (low or dysfunctional), Anti-thrombin (AT) deficiency (low or dysfunctional). Use of these studies in clinical practice has been questioned. We attempted to identify if there are populations of patients that undergo more inpatient screening for inherited causes of venous thromboembolism (VTE). Methods Retrospective chart review of patients admitted with PE or DVT in a community teaching hospital between May 2012 and December 2014. Only patients who had DVT confirmed with ultrasound or PE confirmed with CT angiogram or had high probability of PE on V/Q scan were included in the study. Individual charts were reviewed to see if thrombophilia workup was ordered. Results A total of 704 patients with acute venous thromboembolism were identified who met our inclusion criteria for the study. Of this 111 patients (15.76%) had one or more thrombophilia screening studies ordered. Risk factors related to venous thromboembolism were evaluated for all of the 704 patients. In our patient population, patients who were smokers (31% vs 20%), had history of sleep apnea (9% vs 3%), a past medical history (PMH) of VTE (37% vs 25%) or who had a family history (FH) of VTE (11% vs 4%) were more likely to have a thrombophilia workup ordered. Table 2 shows the frequency of individual thrombophilia studies ordered among the 111 patients who had testing performed and table 3 shows distribution of positive results. Table. Test Result Abnormal Test Results ANA 1 Decreased AT III 10 Decreased Protein C 10 Decreased Protein S 7 Increased Homocysteine 6 Factor V Leiden 4 PT Gene Mutation 1 APLA 1 Conclusion The largest numbers of positive test results were noted for Protein C, Protein S and Antithrombin III and these are known to be affected by acute thrombosis and therefore could be false positives. Our study shows that those patients with PMH or FH of VTE were more likely to have thrombophilia studies. There is no consensus opinion as to whether to perform thrombophilia screenings in acute care settings. Given this and the fact that personal or family history of VTE do not usually modify future treatment decisions and that there may be significant number of false positives we do not recommend routine screening in these patient populations. Figure 1. Figure 1. Figure 2. Figure 2. Disclosures No relevant conflicts of interest to declare.

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