Materiały źródłowe

• #1 Thrombophilia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thrombophilia_epidemiology_and_demographics

  Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown; current data may be providing an underestimate. The prevalence of thrombophilia in Caucasians is approximately 10-7,000 per 100,000 individuals worldwide. […] The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years. The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years. […] The epidemiology of thrombosis varies depending upon the following factors: Venous vs Arterial, Provoked vs Unprovoked, First episode vs Subsequent episode. […] The incidence of incident and recurrent venous thrombosis in inherited disorders is approximately 150-840 and 3,500-10,500 per 100,000 individuals respectively.

• #2 Thrombophilia overview – wikidoc

  https://www.wikidoc.org/index.php/Thrombophilia_overview

  Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown, and current data may be providing an underestimate. […] Prevalence of common inherited thrombophilias is variable among both healthy patients and patients with recurrent thrombosis. […] According to epidemiologic and modeling studies obtained from certain sources, the prevalence of inherited thrombophilias was estimated to be between 0.01-7% in caucasians. […] In certain studies, the prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A, rises to approximately 10-60% in patients with documented venous thrombosis compared to less than 10% among controls. […] The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years. […] The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years.

• #3

  https://www.haematologica.org/content/87/10/1095

  BACKGROUND AND OBJECTIVES: In recent years knowledge concerning inherited and acquired causes of thrombophilia has increased greatly. The most common inherited traits (deficiency in antithrombin, protein C, or protein S, factor V Leiden, prothrombin G20210A) and mild hyperhomocysteinemia are diagnosed in at least 40% of patients with venous thromboembolism (VTE). […] The overall prevalence of thrombophilic traits in the general population being near to 10% renders the probability of carrying multiple defects not excessively rare, with a further increase in thrombotic risk of up to 20-fold. […] More recently, inherited thrombophilia has been focused on as an important determinant of complications of pregnancy and puerperium. As expected, inherited thrombophilia produces an increased risk of VTE, particularly during puerperium.

• #4 Thrombophilia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thrombophilia_epidemiology_and_demographics

  Several epidemiologic studies have reported mixed results regarding the effect of gender on venous thrombosis. […] The Factor V Leiden G1691A and prothrombin G20210A mutations usually affects individuals of the Caucasian race in comparison to non-white individuals. […] The most frequent form of inherited thrombophilia is Factor V Leiden with 20-50% prevalence in patients with recurrent venous thrombosis. […] The prevalence of Factor V Leiden thrombophilia in African and Asian populations is approximately 500 per 100,000 individuals worldwide. […] The second most frequent form of inherited thrombophilia is prothrombin G20210A. Its prevalence in African and Asian populations is approximately 600 per 100,000 individuals worldwide. […] Mild protein C deficiency: 1 in 200 to 1 in 500 individuals. […] Clinically significant protein C deficiency: 1 in 20000 people. […] Severe protein C deficiency: Rarely found among 1 in 4 million infants which may be attributable to underdiagnosis or under-reporting.

• #5 Thrombophilia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thrombophilia_epidemiology_and_demographics

  Venous thromboembolism: It is the second most common cardiovascular disorder following myocardial infarction and more frequent than stroke with the incidence range of 1-5 in 1000 per year in the general population. […] The prevalence of thrombophilia in Caucasian populations is: Factor V Leiden 1 – 20, Prothrombin G20210A 2 – 8, Antithrombin deficiency 0.02-2, Dysfibrinogenemia 1, Protein C deficiency 0.2 – 5, Protein S deficiency 0.3 – 3, Hyperhomocystenemia 5, Elevated factor VIII levels 11. […] Thrombophilias may develop in patients irrespective of their age groups. […] Acquired thrombophilias: They are more commonly observed among elderly patients who are more than 60 years old. […] Inherited thrombophilias: Young patients between 40-55 years old more likely carries the risk of inherited thrombophilias.

• #6 Factor V Leiden thrombophilia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia/

  Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. […] People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. […] Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations.

• #7 Factor V Leiden thrombophilia | Genetics in Medicine

  https://www.nature.com/articles/gim920112

  Factor V Leiden is a genetic disorder characterized by a poor anticoagulant response to activated Protein C and an increased risk for venous thromboembolism. […] Thrombophilic disorders can be identified in half of patients presenting with venous thrombosis. […] Factor V Leiden is the most common genetic risk factor for VTE, found in 20-25% of patients with VTE and 50% of patients with familial thrombophilia. […] The prevalence varies by population. […] The frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5000. […] The clinical expression of Factor V Leiden thrombophilia is variable. […] The primary clinical manifestation of Factor V Leiden is VTE. […] The relative risk for VTE is increased 3- to 8-fold in Factor V Leiden heterozygotes.

• #8 Thrombophilia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thrombophilia-pro

  Factor V Leiden thrombophilia is the most common inherited form of thrombophilia. The prevalence in the US and European general populations is 3-8% for one copy of the factor V Leiden mutation, and about 1:5000 people have two copies of the mutation. […] Moderate protein S deficiency is estimated to affect 1:500 individuals. Severe deficiency is rare and its prevalence is unknown. […] Moderate protein C deficiency affects about 1:500 individuals. Severe deficiency occurs in about 1:4000000 newborns. […] Prothrombin-related thrombophilia is the second most common genetic form of thrombophilia, occurring in about 1.7-3% of the European and US general populations. […] Hereditary antithrombin III deficiency has a prevalence of 1:500-5000 in the general population.

• #9 Thrombophilia – Wikipedia

  https://en.wikipedia.org/wiki/Thrombophilia

  The major („type 1”) thrombophilias are rare. Antithrombin deficiency is present in 0.2% of the general population and 0.5-7.5% of people with venous thrombosis. Protein C deficiency, too, is present in 0.2% of the population, and can be found in 2.5-6% of people with thrombosis. The exact prevalence of protein S deficiency in the population is unknown; it is found in 1.3-5% of people with thrombosis. […] The minor („type 2”) thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30-50% have the defect. The prothrombin mutation occurs at rates of 1-4% in the general population, 5-10% of people with thrombosis, and 15% of people referred for thrombophilia testing. Like factor V Leiden, this abnormality is uncommon in Africans and Asians. […] The exact prevalence of antiphospholipid syndrome is not well known, as different studies employ different definitions of the condition. Antiphospholipid antibodies are detected in 24% of those referred to thrombophilia testing.

• #10 Inherited Thrombophilia Classification – Epidemiology – Pathophysiology – HAEMA

  https://haema-journal.gr/?p=652

  The overall incidence of inherited thrombophilia estimated as about 10% in the general population and 24-37% in patients with venous thrombosis. […] The prevalence of the deficiency of natural anticoagulants in the general population is only 1% (and 7% in patients with venous thrombosis). […] The prevalence of factor V Leiden and prothrombin mutation in the European populations is 5-8% and 0,7-4% respectively, accounting for 50% of cases of inherited thrombophilia in Caucasians. […] Mild hyperhomocysteinemia (5% in the general population) is caused mainly by a mutation in the methylenetetrahydrofolate reductase gene that results in a thermo-labile variant of the enzyme, usually with inadequate intake of folic acid. […] The concept is that patients with thrombophilia have an intrinsic prothrombotic state that is in itself insufficient to cause thrombosis, but may lead to an event when superimposed on (clinical) risk factors.

• #11 Orphanet: Severe hereditary thrombophilia due to congenital protein S deficiency

  https://www.orpha.net/en/disease/detail/743

  Prevalence of partial protein S deficiency (heterozygous individuals) is estimated at 0.16-0.21% in the general population. Prevalence of severe protein S deficiency (homozygous or compound heterozygous individuals) is unknown but is probably comparable to that of severe protein C deficiency which is estimated at 1/500,000. Men and women are equally affected. […] Prognosis is severe in homozygous or compound heterozygous patients. Prognosis is good for heterozygous patients. With adequate treatment and monitoring, the risk of thromboembolic disease is markedly reduced. Mortality may result from pulmonary embolism.

• #12 Hereditary and Acquired Hypercoagulability: Practice Essentials, COVID-19, Pathophysiology

  https://emedicine.medscape.com/article/211039-overview

  Patients with acquired hypercoagulable states or hereditary thrombophilia are more likely to develop clots, venous thrombosis, and arterial thrombosis, than healthy individuals. […] Given the high prevalence of obesity and diabetes in the United States, and the aging of the population, the incidence of thrombosis is likely to increase. […] About 50% of patients presenting with a first idiopathic venous thrombosis have an underlying thrombophilia. […] Hereditary thrombophilias should be suspected in individuals with a history of recurrent thromboembolism, thrombosis at a young age ( 40 years), and/or a family history of thrombosis. […] The objectives of this article are to provide an overview of hereditary and acquired hypercoagulability, to discuss indications for initiating a workup, and to review the selection and interpretation of laboratory tests for these disorders.

• #13 Prevalence of thrombophilia according to age at the first manifestation of venous thromboembolism: results from the MAISTHRO registry – PubMed

  https://pubmed.ncbi.nlm.nih.gov/24219332/

  Thrombophilia is a well-established risk factor for a venous thromboembolic event (VTE), and it has been proposed that hereditary thrombophilia may substantially contribute to the development of VTE in young patients. […] The probability of detecting a hereditary thrombophilia declined significantly with advancing age (from 493% in patients aged 20 years and younger to 219% in patients over the age of 70 years; P 0001). […] Moreover, thrombophilia was more prevalent in unprovoked compared with risk-associated VTE (577% vs. 477%; P = 0001). […] The decline in the prevalence of hereditary thrombophilia with older ages supports the use of a selected thrombophilia screening strategy dependent on age and the presence or absence of additional VTE risk factors.

• #14 Thrombophilias in Pregnancy: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/2056429-overview

  Pregnancy is a state that conveys 4-5 times the risk of venous thromboembolism (VTE). The prevalence of VTE in pregnancy is 0.8-2.0 per 1000 pregnancies and accounts for 1.1 deaths per 100,000 pregnancies. Approximately 80% of embolic events in pregnancy are venous. […] As stated above, 8-15% of Whites are carriers of a thrombophilia gene. Only a small portion of these individuals go on to be diagnosed with VTE in pregnancy; however, 20-50% of patients diagnosed with VTE have a thrombophilia.

• #15 Thrombophilia: What It Is, Causes, Diagnosis, and Treatment – Synlab

  https://www.synlab-sd.com/en/blog/womens-health-en/thrombophilia-in-pregnancy-what-it-is-and-the-risks-for-pregnancy/

  Thrombophilia during pregnancy and the postpartum period is exacerbated by the pro-coagulant characteristics of these conditions, affecting approximately 15% of the general population. […] Physiological adaptations in the body, blood circulation, and coagulation system during pregnancy increase the risk of thrombosis. This risk is influenced by various factors. […] However, women with hereditary thrombophilia and a positive family history are at especially high risk for venous thromboembolism (VTE). […] Among the possible obstetric complications associated with thrombophilic defects, preeclampsia, often related to antithrombin or protein S deficiency, and fetal growth restriction, associated with the Factor V Leiden mutation and the prothrombin gene mutation, stand out. […] Other gestational complications caused by thrombophilia account for approximately 75% of neonatal morbidity and mortality causes, including placental thrombosis, severe forms of gestational hypertension, premature placental abruption, and intrauterine fetal growth restriction, potentially leading to fetal death.

• #16

  https://link.springer.com/article/10.1007/s12185-022-03354-4

  This study investigated patients with thrombophilia and current peripartum management practices based on national surveillance in Japan. […] Between 2014 and 2018, antithrombin (AT), protein C (PC) and protein S (PS) deficiency were observed in 84, 67, and 443 pregnancies, respectively, with incidence rates among total deliveries at 0.012%, 0.009%, and 0.061%. […] The percentage of institutions that measured both antigens and AT, PC, and PS activity for the diagnosis of thrombophilia was 50.2%, and 46.9% of institutions did not perform gene analysis. […] Prophylactic anticoagulation therapy was used in the ante- and postpartum management of patients with AT deficiency at 67.1% and 66.3% of institutions, most commonly with 10,000 units of unfractionated heparin. […] Ante- and postpartum management of PC and PS deficiency was performed at 75.3% and 67.1% of institutions. […] Approximately half of the institutions performed peripartum prophylactic AT supplementation for AT deficiency. […] The number of pregnancies with AT, PC and PS deficiency might be as many as 29, 23 and 151 every year in Japan if complete answers were provided.

• #17 Frequency of thrombophilia associated genes variants: population-based study | BMC Medical Genetics | Full Text

  https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01136-5

  Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. […] Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. […] The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. […] The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. […] The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).

• #18 Frequency of thrombophilia associated genes variants: population-based study | BMC Medical Genetics | Full Text

  https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01136-5

  The acquired tendency to develop thrombophilia and VTE is connected with a lot of clinical or environmental-hypercoagulable states. […] Patients with either the heterozygous FV Leiden or FII mutation are at a mild risk of thrombosis and 3.8 and 4.9 times, respectively more prone to a first blood clot. […] These inherited thrombophilias have limited clinical significance in primary care but they may be important for patients with DVT or PE. […] The clinical utility of molecular testing of c.1601GA and 20210GA variants for hereditary thrombophilia may have predictive value for future thromboembolic events, both in patients with and without prior thromboembolic disease. […] The importance of genetic variants in connection with the increased risk of VTE in the FII and FV genes has been described in the introduction. […] The pathogenic allele in FV (A) gene were observed in our analyzed group of people to the value of 7%. […] This study showed the distribution of alleles and genotypes of two main pathogenic variants associated with inherited thrombophilia (FII and FV) within a group of unrelated Polish subjects.

• #19 The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0185785

  About 15% of patients with unprovoked VTE had HT. […] The prevalence of genetically confirmed HT in patients with unprovoked VTE was about 15%. A positive family history of VTE and young age (age 45 years) were independent predictors for development of unprovoked VTE due to HT. […] The frequency of HT has been reported heterogeneously according to the diagnostic strategy in Asian populations. Studies from other Asian countries have indicated that the prevalence of HT in VTE was 28.3% to 34%. […] In our study, the clinical features of the HT group of patients with unprovoked VTE were similar to those in previous studies. A family history of VTE and young age at presentation (45 years) were strong predictors of unprovoked VTE caused by HT.

• #20 Thrombophilia and Pregnancy: Diagnosis and Management | IntechOpen

  https://www.intechopen.com/chapters/66156

  The most common mutation associated with thrombophilia in Greece is MTHFR C677T (35%), whereas FV-Leiden and prothrombin G20210A have an incidence of about 2%. […] Candidates for thrombophilia testing are people with family history of venous thrombosis, onset in young people (45yo), thrombosis in unusual sites, people with secondary VTE in pregnancy, HTR or oral contraception intake, and patients with recurrent VTE. […] The results of hematologic control should be analyzed by a hematologist.

• #21 Thrombophilia and Pregnancy: Diagnosis and Management | IntechOpen

  https://www.intechopen.com/chapters/66156

  In the USA, pulmonary embolism is the first cause of maternal death. […] Inherited thrombophilia is present almost in the half of the cases of pregnancy-associated venous thromboembolic events (VTE). […] It is well known that during pregnancy, levels of coagulation proteins like protein S, protein C, and antithrombin III are decreased, but deficiencies in these factors can easily lead to hypercoagulation. […] Finally, there is no evident correlation between high level VIIIc and preeclampsia, IUGR (intrauterine growth retardation), and HELLP syndrome. […] Monitoring of pregnant women with hereditary thrombophilia involves the implementation of a complete laboratory investigation. […] Laboratory testing is a common practice in women with a history of venous thrombosis or pulmonary embolism.

• #22 Women’s Health and Education Center (WHEC) – Medical Disorders and Pregnancy – Inherited Thrombophilias in Pregnancy

  http://www.womenshealthsection.com/content/obsmd/obsm018.php3

  Meta-analyses and a retrospective cohort study have revealed an association between inherited thrombophilias and first-trimester pregnancy loss. […] Overall, there is insufficient evidence to establish a link between thrombophilia and placental abruption. […] Screening for thrombophilias in controversial. […] Inherited thrombophilias are a heterogenous group of coagulation disorders that predispose individuals to thromboembolic events. They are major risk factors for thromboembolism during pregnancy and the puerperium. In addition, thrombophilias have been implicated in a variety of adverse obstetric events, including pregnancy loss (especially fetal death), preeclampsia, placental abruption, and IUGR. […] Inherited thrombophilia testing in women who have experienced recurrent fetal loss or placental abruption is not recommended because it is unclear whether anticoagulation reduces recurrence.

• #23 Inherited Thrombophilias in Pregnancy | ACOG

  https://www.acog.org/clinical/clinical-guidance/practice-bulletin/articles/2018/07/inherited-thrombophilias-in-pregnancy

  ABSTRACT: Inherited thrombophilias are associated with an increased risk of venous thromboembolism and have been linked to adverse outcomes in pregnancy. […] The purpose of this document is to review common thrombophilias and their association with maternal venous thromboembolism risk and adverse pregnancy outcomes, indications for screening to detect these conditions, and management options in pregnancy. […] This Practice Bulletin has been revised to provide additional information on recommendations for candidates for thrombophilia evaluation, updated consensus guidelines regarding the need for prophylaxis in women with an inherited thrombophilia during pregnancy and the postpartum period, and discussion of new published consensus guidelines from the Society for Obstetric Anesthesia and Perinatology addressing thromboprophylaxis and neuraxial anesthetic considerations in the obstetric population.

• #24 The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated | Blogs | CDC

  https://blogs.cdc.gov/genomics/2016/12/15/the-appropriateness/

  Further, there are important scenarios where thrombophilia panel testing is appropriate. […] Inappropriate use of the thrombophilia panel comprises only one example of genetic testing applications considered as Tier 3 on CDCs Tier Table Database. […] We need more research to assess genetic tests that have been classified as Tier 3 applications. Complex public health issues, like thrombophilia panel testing, deserve careful consideration of the specific clinical scenario. […] Therefore, it is important to understand the underlying reasons why thrombophilia tests are ordered in order to estimate how many fall in the Tier 3 application category.

• #24 The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated | Blogs | CDC

  https://blogs.cdc.gov/genomics/2016/12/15/the-appropriateness/

  Deep vein thrombosis (DVT) and pulmonary embolism (PE) are two manifestations of venous thromboembolism (VTE), an underdiagnosed, serious, and sometimes-preventable medical condition that occurs when a blood clot forms in a deep vein (DVT) and subsequently breaks up and travels to the lungs (PE). DVT/PE is a serious public health problem affecting an estimated 600,000-900,000 people on an annual basis and causing up to 100,000 deaths each year. […] The authors point out that, with some exceptions, knowing this trait should not affect the choice of medical treatment (e.g., blood thinners) for people with an acute DVT/PE and, therefore, does not offer clinical value in that setting. […] However, to characterize all thrombophilia panel testing as inherently wasteful oversimplifies a complex public health problem.

• #25 Heritable thrombophilia testing in British Columbia: A report on practice patterns and prevalence | British Columbia Medical Journal

  https://bcmj.org/articles/heritable-thrombophilia-testing-british-columbia-report-practice-patterns-and-prevalence

  Eleven of 12 specialists completed the survey. The responses indicated that while the specialists felt very confident in their ability to interpret test results, most ordered these tests knowing that the results are unlikely to contribute to patient care. […] Surveyed specialists agreed that heritable thrombophilia testing is usually unhelpful in patient care and disagreed regarding the appropriate indications for testing. Much testing in BC occurs in female outpatients of reproductive age. […] Results from a survey and data from records for factor V Leiden mutation testing indicate that provincial HT testing guidelines may be needed. […] Our study is the first to document the volume and practice patterns of HT test ordering in any Canadian province. […] This practice is clearly questionable and raises concerns regarding the value and utility of laboratory testing and its impact on patient outcomes.

• #26 Thrombophilia and Hypercoagulable States | 5-Minute Clinical Consult

  https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688839/all/Thrombophilia_and_Hypercoagulable_States?q=anticoagulants

  Antiphospholipid antibodies are found in ~50% of patients with systemic lupus erythematosus (SLE) and up to 5% of the general population. […] 4080% of lower extremity orthopedic procedures can result in DVT if prophylaxis is not used. […] VTE accounts for ~1.2 to 4.7 deaths per 100,000 pregnancies.

• #26 Thrombophilia and Hypercoagulable States | 5-Minute Clinical Consult

  https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688839/all/Thrombophilia_and_Hypercoagulable_States?q=anticoagulants

  VTE incidence is higher in ages 16 to 44 years; then, higher in men when 45 years of age. […] VTE incidence is higher in African American populations. […] An inherited thrombophilic defect or risk can be detected in up to 50% of patients with VTE. […] Factor V Leiden (FVL) is the most common inherited thrombophilia (1/2 of all currently characterizable inherited thrombophilia cases involve the FVL mutation), and it is present in its heterozygous form in up to ~20% of patients with a first VTE. […] Heterozygous prothrombin G20210A mutation, the second most common inherited thrombophilia, is present in up to ~8% of patients with VTE. […] Pregnancy: ~1 to 2/1,000 pregnancies affected by VTE. […] Cancer: ~20% of all VTEs occur in setting of active cancer; ~6% of unprovoked VTEs have undiagnosed cancer.

• #27 Factor V Leiden thrombophilia | Genetics in Medicine

  https://www.nature.com/articles/gim920112

  Approximately 30% of individuals with an incident VTE develop recurrent thrombosis within the subsequent 8 years. […] The available data indicate that Factor V Leiden is associated with a 2- to 3-fold increased relative risk for pregnancy loss and possibly other complications such as preeclampsia, intrauterine growth restriction and placental abruption. […] The presence of a Factor V Leiden allele increases the risk associated with other inherited and acquired thrombophilic disorders.

• #28 Thrombophilia and Hypercoagulable States | 5-Minute Clinical Consult

  https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688839/all/Thrombophilia_and_Hypercoagulable_States?q=Obesity

  VTE incidence is higher in ages 16 to 44 years; then, higher in men when 45 years of age. […] VTE incidence is higher in African American populations. […] An inherited thrombophilic defect or risk can be detected in up to 50% of patients with VTE. […] Factor V Leiden (FVL) is the most common inherited thrombophilia (1/2 of all currently characterizable inherited thrombophilia cases involve the FVL mutation), and it is present in its heterozygous form in up to ~20% of patients with a first VTE. […] Heterozygous prothrombin G20210A mutation, the second most common inherited thrombophilia, is present in up to ~8% of patients with VTE. […] Pregnancy: ~1 to 2/1,000 pregnancies affected by VTE. […] Cancer: ~20% of all VTEs occur in setting of active cancer; ~6% of unprovoked VTEs have undiagnosed cancer. […] VTE accounts for ~1.2 to 4.7 deaths per 100,000 pregnancies.

• #29 Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil | Hematology, Transfusion and Cell Therapy

  https://www.elsevier.es/pt-revista-hematology-transfusion-cell-therapy-396-articulo-prevalence-thrombophilia-associated-genetic-risk-factors-S2531137921000353

  This could influence findings from this study, especially homozygosity rates. […] The risk of thrombosis is increased 5-fold in heterozygotes and 50-fold in homozygotes. […] The g.20210GA variant in the F2 gene is less prevalent (around 2%) and almost only found in Europeans. […] A larger sample size screening would be ideal for more accurate determination of the allele frequencies in the southern Brazilian population, since a difference in the frequency of the SNPs in our sample was observed, when compared with groups of other Brazilian regions, but very similar to that of the European population. […] We also intend to compare the frequencies found here with those observed in women with recurrent miscarriage and in patients with the clinical condition of thrombophilia in our population to evaluate if there is an increased risk for VTE in those groups.

• #30 Hereditary and Acquired Hypercoagulability: Practice Essentials, COVID-19, Pathophysiology

  https://emedicine.medscape.com/article/211039-overview

  Lupus anticoagulants and antiphospholipid syndromes are present in 4-14% of the population. […] The risk for thrombosis can be markedly increased in patients with two or more risk factors for thrombosis. Any multiplicity of risk factors, whether hereditary thrombophilias or acquired risks, increases the risk for thrombosis. […] The risk for thrombosis increases with age and associated immobility.

• #31 Prevalence and Outcomes of Thrombophilia in Patients with Acute Pulmon | VHRM

  https://www.dovepress.com/prevalence-and-outcomes-of-thrombophilia-in-patients-with-acute-pulmon-peer-reviewed-fulltext-article-VHRM

  The overall mortality rate was 8.4%, and the mortality rate was non-significantly higher in the non-thrombophilia group compared to the thrombophilia group. […] In conclusion, deficiency of protein S, protein C, and antithrombin III is the leading cause of thrombophilic defects in our cohort; however, the timing of measurement is crucial. Patients with hereditary thrombophilia are at increased risk of acute PE, particularly young individuals (40 years). […] Therefore, early detection of thrombophilic defects together with other unprovoked risk factors could reduce the risk of VTE in high-risk individuals.

• #32 The impact of close surveillance on pregnancy outcome among women with a prior history of antepartum complications attributed to thrombosis: a cohort study | Reproductive Biology and Endocrinology | Full Text

  https://rbej.biomedcentral.com/articles/10.1186/1477-7827-6-55

  There is limited evidence, so far, as to the optimal management of women with a prior obstetric history of antepartum complications attributed to thrombosis. […] We aimed to investigate the contribution of close antepartum surveillance on pregnancy outcome among women with prior antepartum complications attributed to thrombosis. […] Close antepartum surveillance may contribute to improvement in the perinatal outcomes of women with prior antepartum complications attributed to thrombosis. […] The present report demonstrates that close antepartum surveillance at specialized clinics may contribute to improvement in the perinatal outcomes of women with prior antepartum complications attributed to thrombosis regardless of the presence of thrombophilia detected by our testing methods. […] The present report demonstrates that among women with antepartum complications who were found to have inherited or acquired thrombophilia, close surveillance combined with antithrombotic therapy in subsequent gestations, resulted in a significant improvement in perinatal outcome, compared to the previous gestations.

• #33 The impact of close surveillance on pregnancy outcome among women with a prior history of antepartum complications attributed to thrombosis: a cohort study | Reproductive Biology and Endocrinology | Full Text

  https://rbej.biomedcentral.com/articles/10.1186/1477-7827-6-55

  Close surveillance alone, decreased significantly the incidence of IUFDs per woman. […] Moreover, gestational age and birth weight were both improved, probably due to the opportunity of prolonging the gestational age under close surveillance. […] When comparing perinatal outcome between the groups, antepartum complications were reduced significantly in both groups after close surveillance. […] Although, and due to ethical issues, the women in both groups were not randomized and all got the same close antepartum surveillance, this study reveals that close surveillance at a specialized clinic may improve the perinatal outcomes of both thrombophilic and non-thrombophilic women with prior antepartum complications attributed to thrombosis.

• #34 Thrombophilia: What It Is, Causes, Diagnosis, and Treatment – Synlab

  https://www.synlab-sd.com/en/blog/womens-health-en/thrombophilia-in-pregnancy-what-it-is-and-the-risks-for-pregnancy/

  For these patients, a detailed personal risk assessment is critical before initiating prophylactic medications against thromboembolic events. Monitoring during pregnancy is also essential. […] Effective monitoring and management are vital to reducing risks, requiring an interdisciplinary approach involving gynecologists, midwives, anesthesiologists, and hematologists throughout pregnancy, delivery, and postpartum. This collaboration ensures maternal-fetal safety.

• #35 Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis | The BMJ

  https://www.bmj.com/content/359/bmj.j4452

  To date, no systematic review or meta-analysis of absolute risk of pregnancy associated VTE for women with thrombophilia has been published. […] We performed an updated systematic review and meta-analysis of studies on the relative and absolute risks of pregnancy associated VTE in women with established thrombophilia with no previous VTE to improve prevention of pregnancy associated VTE in women. […] Women with hereditary thrombophilia have an increased risk of pregnancy associated venous thromboembolism (VTE). […] High absolute risk estimates for pregnancy associated VTE were found for women with the rare thrombophilias of antithrombin deficiency, protein C deficiency, protein S deficiency, and homozygous factor V Leiden mutation, but not for compound heterozygous factor V Leiden and prothrombin G20210A mutation.

• #36 Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis | The BMJ

  https://www.bmj.com/content/359/bmj.j4452

  For women with the more prevalent heterozygous factor V Leiden mutation or heterozygous prothrombin G20210A mutation the absolute risk was mildly increased, and limited to women with a positive family history. […] The absolute risk of pregnancy associated VTE was higher for non-carriers in family studies compared with non-carriers in non-family studies. […] In this systematic review and meta-analysis we show that all women with inherited thrombophilia have an increased risk of pregnancy associated VTE. […] The data in this review should be considered in future management guidelines on pregnancy associated VTE risk in women with hereditary thrombophilia.

• #37

  https://link.springer.com/article/10.1007/s00277-024-05926-2

  This systematic review and meta-analysis assesses venous thromboembolism (VTE) risk in adults with hereditary thrombophilia, including Factor V Leiden (FVL) mutation, prothrombin G20210A (FII) mutation, compound heterozygosity, protein C (PC), protein S (PS), and antithrombin (AT) deficiency. […] These results highlight an increased risk of venous thromboembolism in adults with hereditary thrombophilia. […] The present results highlight an increased risk of venous thromboembolism in adults with hereditary thrombophilia. However, the risk of primary VTE in patients with PC, PS, and AT deficiency is lower than previously stated. […] Our findings underscore significant variation in VTE risk among PC, PS, and AT deficient individuals, likely attributed to the thrombogenicity of the underlying mutation and other yet unestablished hereditary thrombophilic factors.

Zobacz więcej