Materiały źródłowe

• #1 Epidemiology of factor V Leiden: clinical implications – PubMed

  https://pubmed.ncbi.nlm.nih.gov/9763354/

  Inherited resistance to activated protein C (APC) has been recently recognized as a novel cause underlying venous thrombophilia. […] Factor V Leiden allele is present in about 5% of the Caucasian individuals (Europeans, Jews, Israeli Arabs, and Indians) and is virtually absent in Africans, Asians, and races with Asian ancestry such as Amerindians, Eskimos, and Polynesians; this suggests a single origin of the mutation, which has been proven by haplotype analysis. […] A low prevalence of the mutation (1%) was noticed in African-Americans for recent racial admixture. […] Factor V Leiden presents not a major role as risk factor for arterial thrombosis, while it is present in 18% of Caucasian patients with venous thrombosis. […] Conversely, factor V Leiden is usually not found in non-Caucasian thrombotic patients; this could give reason of the lower incidence of venous thrombotic disease in Africa and Asia in comparison with Europe.

• #1 Epidemiology of factor V Leiden: clinical implications – PubMed

  https://pubmed.ncbi.nlm.nih.gov/9763354/

  Therefore, screening for factor V Leiden is suggested for all Caucasian individuals with previous venous thrombosis; inclusion criteria for the screening should not be stringent because clinical manifestations associated with the mutant genotype can be also mild or secondary to circumstantial risk factors or manifesting at advanced age. […] So far, screening for the mutation in individuals with no history of thrombosis is recommended only for relatives of proband patients identified as carriers; the available data do not justify indiscriminate screening before risk situations such as oral contraceptives intake, pregnancy, or high-risk surgery.

• #2 Factor V Leiden Mutation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534802/

  Heterozygosity of the factor V Leiden mutation is the most common inherited thrombophilia in the unselected White population (prevalence, approximately 1% to 5%) and is considered the most common inherited thrombophilia in individuals with venous thromboembolism (prevalence of roughly 10% to 20%). Heterozygosity of this genetic mutation increases the lifetime risk of thrombosis by about 7-fold, while homozygosity (which is rare) increases the risk by approximately 20-fold. Despite the increase in the risk of VTE, there is no clinical evidence that heterozygosity of factor V Leiden increases overall mortality. […] The primary clinical manifestation of the factor V Leiden mutation is the risk for venous thromboembolism (VTE). However, the most common finding in individuals with factor V Leiden is a laboratory-only abnormality. Only a small percentage of individuals with factor V Leiden will develop VTE in their lifetime, with an approximate risk of 5% for factor V Leiden heterozygotes in the general population and up to 20% in thrombophilic families.

• #2 Factor V Leiden Mutation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534802/

  A proportion of the population with factor V Leiden will suffer from venous thrombosis. Thromboembolism, including pulmonary embolism, carries significant morbidity and mortality. However, despite the increase in the risk of VTE, there is no evidence that heterozygosity to factor V Leiden increases overall mortality.

• #3 EPIDEMIOLOGY OF ACTIVATED PROTEIN C RESISTANCE AND FACTOR V LEIDEN MUTATION IN THE MEDITERRANEAN REGION | Mediterranean Journal of Hematology and Infectious Diseases

  https://www.mjhid.org/mjhid/article/view/2011.037

  Venous thromboembolic disorders (VTE) are serious disorders with high morbidity and mortality rates. Many genetic and acquired risk factors were identified to cause VTE. The most common genetic risk factor is Factor V Leiden mutation (FVL). FVL was found in high percentage of populations of Caucasian origin but was almost absent in non-Caucasians. It was also reported in populations living in North Africa and the Middle East. This review article briefly explains FVL and how it causes VTE, the distribution of FVL worldwide, and then it elaborates on the epidemiology of FVL in the Mediterranean Region and how this brought speculations that FVL might have originated in the Eastern Mediterranean area.

• #4 Factor V Leiden thrombophilia: MedlinePlus GeneticsLock

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

  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. […] The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000.

• #5 Factor V Leiden | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/factor-v-leiden?embed_domain=hackmd.io%25252F%252540yipuafecsl2jsu8smr5njq%25252Fbnjhjgjghjghjghradiopaedia-icon-144.png&lang=gb

  Heterozygous factor V Leiden may be present in around 5% of the European population and is most common in people of Northern European descent and in some Middle Eastern populations. The homozygous and more severe form is found in fewer than 1%. […] The presence of factor V Leiden does not change anticoagulant management in patients with thromboembolism, and there is no role for prophylactic anticoagulation for patients who are homozygous or heterozygous to the factor V Leiden allele 1.

• #6 Factor V Leiden – Wikipedia

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

  Studies have found that about 5 percent of Caucasians in North America have factor V Leiden. […] Data have indicated that prevalence of factor V Leiden is greater among Caucasians than minority Americans. […] Up to 30 percent of patients who present with deep vein thrombosis (DVT) or pulmonary embolism have this condition. […] The risk of developing a clot in a blood vessel depends on whether a person inherits one or two copies of the factor V Leiden mutation. […] Inheriting one copy of the mutation from a parent (heterozygous) increases by fourfold to eightfold the chance of developing a clot. […] People who inherit two copies of the mutation (homozygous), one from each parent, may have up to 80 times the usual risk of developing this type of blood clot. […] Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to between 3 in 1,000 to 8 in 1,000.

• #6 Factor V Leiden – Wikipedia

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

  Having two copies of the mutation may raise the risk as high as 80 in 1,000. […] It is unclear whether these individuals are at increased risk for recurrent venous thrombosis. […] While only 1 percent of people with factor V Leiden have two copies of the defective gene, these homozygous individuals have a more severe clinical condition. […] The presence of acquired risk factors for venous thrombosis including smoking, use of estrogen-containing (combined) forms of hormonal contraception, and recent surgery further increase the chance that an individual with the factor V Leiden mutation will develop DVT.

• #7 Factor V Leiden

  https://mobile.fpnotebook.com/HemeOnc/Coags/FctrVLdn.htm

  Most common inherited Thrombophilia in the United States. Heterozygous Prevalence: 3 to 7% (U.S.). Responsible for 20-50% of Hypercoagulable patients. Incidence of Autosomal Dominant genetic defect: Europeans: 15%. North America: 3-5%. Most common in white patients. African Americans represent 1% of cases. Factor V Leiden is found in 21% of DVT patients (contrast with 5% of healthy patients). […] Also found to be associated with more extensive DVTs of larger veins.

• #8 Factor V Leiden | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/116222/all/Factor_V_Leiden?q=Factor+Leiden+V

  ~58% occurrence of heterozygosity in Caucasians, Hispanic Americans ~2%, African Americans ~1%, and Asian Americans ~0.45% of those heterozygous for FVL small percentage of individuals develop VTE, estimated 510% […] General population 45% without history of venous thromboembolism (VTE); 1214% reported in parts of Greece, Sweden, and Lebanon. No reports seen in Chinese or Japanese.

• #9 Epidemiology of Factor V Leiden Mutation in Various Populations: Northeastern Germany, Poland, Argentina, Venezuela, Costa Rica and India | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-642-80403-8_52

  Resistance to activated protein C (APC) is the most common inherited risk factor for venous thrombosis. The most cases of APC resistance are caused by the point mutation nt 1691 GA in factor V gene referred to as factor V Leiden mutation. As initially shown in a Dutch population, this mutation is with a carrier rate of 2.9% the most frequent genetic disposition for thrombophilia and deep vein thrombosis. […] By large scale epidemiological studies using capillar blood samples soaked onto filter paper test cards, we have determined the prevalence of factor V Leiden mutation in populations of north-eastern Germany (814 newborns), from Poland (200), Argentina (215), Venezuela (126), Costa Rica (198) and India (152). The prevalence of 7% in north-eastern Germany is significantly higher than that found in a Polish (Warsaw) population (5%). The prevalences are in populations of Argentina (Buenos Aires) 5.1%, in Venezuela (Valencia) 1.6%, in Costa Rica (San Jose) 2.0%, and in India (Punjab) 1.3%. […] The world-wide distribution of factor V Leiden mutation is discussed.

• #10 Thrombophilia in Pregnancy: Screening and Management – The ObG Project

  https://www.obgproject.com/2018/07/18/acog-guidance-on-thrombophilia-in-pregnancy/

  Pregnancy is a well-known hypercoagulable state and inherited thrombophilias can further increase the risk for maternal venous thromboembolism (VTE). […] VTE affects approximately 1 to 4 /1000 pregnancies. […] There is a greater than 5-fold risk of VTE during pregnancy. […] Factor V Leiden prevalence dependent on ethnicity/race: Caucasians: 5.27%, Hispanic Americans: 2.21%, African Americans: 1.23%, Asian Americans: 0.45%, Native Americans: 1.25%. […] Heterozygote state: VTE risk in pregnancy without a personal history of VTE or an affected first-degree relative

• #11 Factor V Leiden Mutation | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/21577

  Heterozygosity of the factor V Leiden mutation is the most common inherited thrombophilia in the unselected White population (prevalence, approximately 1% to 5%) and is considered the most common inherited thrombophilia in individuals with venous thromboembolism (prevalence of roughly 10% to 20%). […] Heterozygosity of this genetic mutation increases the lifetime risk of thrombosis by about 7-fold, while homozygosity (which is rare) increases the risk by approximately 20-fold. Despite the increase in the risk of VTE, there is no clinical evidence that heterozygosity of factor V Leiden increases overall mortality. […] Testing for factor V Leiden is indicated for individuals with venous thromboembolism, especially if: VTE occurs at a young age, generally speaking, less than 50 yrs of age; Atypical sites of clotting like visceral vein thromboses like an ovarian vein, portal vein, or renal vein thrombosis; Unexplained arterial thrombosis; Significant family history of thrombophilia; In a hospitalized patient developing VTE despite being on prophylactic anticoagulation with no other definite explanation for VTE; Unexplained recurrent deep venous thrombosis/PE. […] The outcomes in most patients with factor V Leiden are good, but the outcomes in pregnant women with the disorder are serious because of morbidity associated with VTE development and VTE-associated complications in pregnancy.

• #12 Factor V Leiden Mutation – Anatolia Geneworks

  https://www.anatoliageneworks.com/diseases/factor-v-leiden-mutation/

  The most common inherited thrombophilia in the unselected Caucasian population is the heterozygosity of the factor V Leiden mutation, with a prevalence of approximately 1% to 5%. […] In individuals with venous thromboembolism, this mutation is also considered the most common inherited thrombophilia, with a prevalence of roughly 10% to 20%. […] Having this genetic mutation increases the lifetime risk of thrombosis by about 7-fold if its heterozygous, while homozygosity is rare and increases the risk by approximately 20-fold. […] Although having this mutation increases the risk of a venous thrombotic event (VTE), there is no clinical evidence that it increases overall mortality in those who are heterozygous for the factor V Leiden mutation.

• #13 American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing | Genetics in Medicine

  https://www.nature.com/articles/gim200128

  It is believed to produce a relative risk of venous thrombosis of about 7-fold in the heterozygous state and about 80-fold in the homozygous state. […] When venous thrombosis patients are selected to be under 50 years old and/or to have recurrent thrombosis, up to 40% have the factor V Leiden genotype. […] Factor V Leiden increases the risk for recurrent fetal loss, possibly due to placental thrombosis. […] Testing in women with recurrent pregnancy loss may be important, since antithrombotic therapy may be effective in allowing these women to carry a pregnancy to term. […] Factor V Leiden has also been associated with increased risk of severe preeclampsia, placental abruption, unexplained intrauterine fetal growth retardation, and stillbirth. […] The weight of currently available evidence suggests that arterial thrombosis, myocardial infarction, and stroke are not associated with factor V Leiden.

• #13 American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing | Genetics in Medicine

  https://www.nature.com/articles/gim200128

  An exception is myocardial infarction in young (45 years old) female smokers, in whom the combination of the two factors increases the relative risk 32-fold. […] Factor V Leiden testing is recommended in women with venous thromboembolism during pregnancy or oral contraceptive use. […] Routine screening for factor V Leiden in asymptomatic women contemplating or using oral contraceptives is not recommended, except for those with a personal or family history of thromboembolism or other medical risk factors. […] Patients testing positive for factor V Leiden or APC resistance should be considered for molecular genetic testing for the most common other thrombophilias with overlapping phenotype for which testing is easy and readily available. […] The factor V Leiden (R506Q) mutation is currently the only molecular analysis of the factor V gene indicated in the routine workup of thrombotic risk.

• #13 American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing | Genetics in Medicine

  https://www.nature.com/articles/gim200128

  Factor V R506Q (Leiden), causing activated protein C (APC) resistance, was discovered in 1994 and is the most common genetic risk factor for venous thrombosis. […] Knowledge of the presence of factor V Leiden in patients and relatives can influence management and prevention of venous thrombosis in some cases. […] Factor V Leiden has also been associated with increased risk of recurrent pregnancy loss and placental infarction. […] The incidence of venous thrombosis is about 1 per 1,000 person-years and leads to 50,000 deaths annually in this country. […] Known genetic causes are present in approximately 25% of unselected venous thrombosis cases and up to 63% of familial cases. […] The factor V Leiden mutation is carried in heterozygous form by about 5% of the Caucasian population; it is rarer in Hispanic-Americans, rarer still in African-Americans, and virtually absent in Africans and Asians.

• #14 Factor V Leiden

  https://fpnotebook.com/HemeOnc/Coags/FctrVLdn.htm

  Most common inherited Thrombophilia in the United States. Heterozygous Prevalence: 3 to 7% (U.S.). Responsible for 20-50% of Hypercoagulable patients. Incidence of Autosomal Dominant genetic defect: Europeans: 15%. North America: 3-5%. Most common in white patients. African Americans represent 1% of cases. […] Factor V Leiden is found in 21% of DVT patients (contrast with 5% of healthy patients). Also found to be associated with more extensive DVTs of larger veins.

• #15 Thrombophilia epidemiology and demographics – wikidoc

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

  Inherited thrombophilia: 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. […] 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.

• #16 Factor V Leiden – wikidoc

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

  Women with Factor V Leiden have a substantially increased risk of clotting in pregnancy (and on estrogen containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. […] They also have an increased risk of preeclampsia, as well as miscarriage and stillbirth due to clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene).

• #16 Factor V Leiden – wikidoc

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

  Studies have found that about 5% of caucasians in North America have factor V Leiden. […] The disease is less common in Hispanics and African-Americans and is extremely rare in people of Asian descent. […] Up to 30% of patients who present with deep vein thrombosis (DVT) or pulmonary embolism have this condition. […] Factor V Leiden doubles the risk that a person will have a DVT during their life, but it is unclear whether these individuals are at increased risk for recurrent a venous thrombosis. […] While only 1% of people with factor V Leiden have two copies of the defective gene, these homozygous individuals have a more severe clinical condition. […] The presence of acquired risk factors for venous thrombosis — including smoking, use of estrogen-containing (combined) forms of hormonal contraception use, and recent surgery — further increase the chance that an individual with the factor V Leiden mutation will develop DVT.

• #17 A case-control study on factor V Leiden: an independent, gender-dependent risk factor for venous thromboembolism | Thrombosis Journal | Full Text

  https://thrombosisjournal.biomedcentral.com/articles/10.1186/s12959-021-00328-0

  In Tehran, a province with different nations in Iran, the prevalence was reported to be ~5.5%. […] The inheritance of this abnormality is autosomal recessive and its frequency varies between countries. […] The most common manifestations in patients with APCR abnormality were DVT followed by abortion and PE. […] Despite the higher frequency of women, the second thrombotic symptom was miscarriage (22%) along with pregnancy complications (5%), accounting together for 27% of all symptoms. […] In conclusion, patients with phenotypic resistance to APC have an increased risk for VTE.

• #17 A case-control study on factor V Leiden: an independent, gender-dependent risk factor for venous thromboembolism | Thrombosis Journal | Full Text

  https://thrombosisjournal.biomedcentral.com/articles/10.1186/s12959-021-00328-0

  Activated protein C resistance (APCR) due to factor V Leiden (FVL) mutation (R506Q) is a major risk factor in patients with venous thromboembolism (VTE). […] An estimated 64% of patients with venous thromboembolism (VTE) have APCR as the most common associated clotting abnormality. […] The risk of deep vein thrombosis (DVT) and pulmonary embolism (PE) in APCR patients was 4.5 and 3.2 times more than the control group, respectively. […] FVL mutation and APCR abnormality are noticeable risk factors for VTE. […] Screening strategies for FVL mutation in patients undergoing surgery, oral contraceptive medication, and pregnancy cannot be recommended, but a phenotypic test for activated protein C resistance should be endorsed in patients with VTE. […] The prevalence of FVL in some parts of the world, such as Japan and Africa, is null; however, it is 5-10% in Europe.

• #18 Risk of venous thromboembolism in association with factor V leiden in cancer patients – The EDITH case-control study | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194973

  Cancer and factor V Leiden mutation are both risk factors for venous thromboembolism (VTE). Cancer critically increases the thrombotic risk whereas Factor V Leiden is the most common pro-thrombotic mutation. The impact of the factor V Leiden on the risk of VTE in cancer patients remains uncertain. […] Twenty one of 182 (11.5%) patients with cancer-associated thrombosis carried the factor V Leiden mutation and 4 of 182 (2.2%) controls with cancer but no venous thrombosis. In multivariate analysis including cancer stage and family history of VTE, cancer patients with factor V Leiden mutation had a seven-fold increased risk of venous thromboembolism (adjusted odds ratio [OR], 7.04; 95% CI, 2.0124.63). […] The pro-thrombotic Factor V Leiden mutation was found to be an independent additional risk factor for venous thromboembolism in cancer patients and might therefore be considered in the individual thrombotic risk assessment.

• #19 Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members | Genetics in Medicine

  https://www.nature.com/articles/gim9201111

  The presence of a heterozygous FVL variant seems to be a weak risk factor for recurrence of VTE (odds ratio [OR]: 1.56). Rare homozygous FVL mutations present somewhat greater risks of VTE recurrence (OR: 2.65). The evidence for this increased risk is convincing, but the magnitude of excess risk is not as great as previously thought. The evidence is insufficient to draw conclusions about excess VTE recurrence risk resulting from compound heterozygosity (FVL and PT), but it is likely to be at least as high as with FVL alone. The OR for compound heterozygosity is 6.69. The evidence is insufficient to draw conclusions about VTE recurrence risks associated with PT mutations alone. For family members of index VTE cases, there is convincing evidence that both heterozygosity and homozygosity for FVL are associated with higher risks for VTE occurrence (ORs 3.49 and 17.84, respectively) than for family members without FVL variants.

• #19 Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members | Genetics in Medicine

  https://www.nature.com/articles/gim9201111

  There is convincing evidence that longer term secondary prophylaxis after an initial idiopathic VTE event yields comparable benefits to those with and without a FVL or PT mutation. For asymptomatic family members of index cases, no prophylaxis trials have been reported. Hence, there is no direct evidence of particular benefit to family members. Potential net harm is possible if primary prophylaxis is administered to asymptomatic family members with one or more mutations, because the absolute risk of an initial VTE event is low, and the risk of anticoagulant-induced hemorrhage is relatively high.

• #19 Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members | Genetics in Medicine

  https://www.nature.com/articles/gim9201111

  Summary of Recommendations: The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found adequate evidence to recommend against routine testing for Factor V Leiden (FVL) and/or prothrombin 20210GA (PT) in the following circumstances: (1) adults with idiopathic venous thromboembolism (VTE). In such cases, longer term secondary prophylaxis to avoid recurrence offers similar benefits to patients with and without one or more of these mutations. (2) Asymptomatic adult family members of patients with VTE and an FVL or PT mutation, for the purpose of considering primary prophylactic anticoagulation. Potential benefits are unlikely to exceed potential harms. The overall certainty of these findings was deemed moderate. The evidence was insufficient to determine whether FVL/PT testing might have clinical utility in some circumstances, such as for identifying FVL homozygosity among asymptomatic family members of adults with idiopathic VTE or counseling patients about the risks and benefits of antithrombotic therapy. Based on the available evidence, the certainty of net health benefit was deemed low. The recommendations do not extend to patients with other risk factors for thrombosis, such as contraceptive use, as the evidence review that serves as the basis for the recommendations focused primarily on idiopathic VTE.

• #20 Factor V Leiden: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17896-factor-v-leiden

  Laboratory testing (blood tests) diagnose this disorder. Your healthcare provider may suspect you have factor V Leiden if you have a history of venous thromboembolism. They may also suspect it if one or more of your biological family members have a history of blood clots. […] If your provider feels its warranted, theyll order blood tests, including: Activated protein C (APC) blood test: This coagulation factor screening test checks if your blood has resistance to activated protein C. This is a protein that prevents factor V from going into overdrive. About 9 in 10 people whose blood is resistant to protein C have the factor V Leiden mutation. […] Genetic testing: If your blood is resistant to protein C, your provider will order genetic testing to check your F5 gene for the factor V Leiden mutation. In some cases, providers order this test without first ordering an APC blood test.

• #21 Xpert® FII & FV

  https://www.cepheid.com/en-US/tests/oncology-human-genetics/xpert-fii-fv.html

  Thrombophilia is defined as an increased risk or tendency to develop blood clots (thrombi) as a consequence of predisposing factors that may be inherited or acquired. A thrombus may form in either the venous or arterial vascular system. Venous thrombophilia is usually related to an abnormality of the coagulation system and may result in deep venous thrombosis (DVT) or pulmonary embolism (PE). Research shows that venous thromboembolism is a complex pathology that is reliant upon the interaction of both acquired and genetic factors. The most commonly associated genetic mutations for inherited thrombophilia are mutations in the genes for Factor V Leiden and Factor II (prothrombin). […] Xpert FII FV is a qualitative genotyping test for the rapid detection of Factor II (FII) and Factor V (FV) alleles. Performed on the Cepheid GeneXpert System, the test is intended to provide rapid results for Factor II c.*97GA (G20210A) and Factor V Leiden c.1601GA (G1691A or R506Q) mutations as an aid in the diagnosis of suspected thrombophilia.

• #22 Factor V Leiden and activated protein C resistance – UpToDate

  http://www.uptodate.com/contents/activated-protein-c-resistance-and-factor-v-leiden

  Factor V Leiden (FVL) results from a point mutation in the F5 gene, which encodes the factor V protein in the coagulation cascade. FVL renders factor V (both the activated and inactive forms) insensitive to the actions of activated protein C (aPC), a natural anticoagulant. As a result, individuals who carry the FVL variant are at increased risk of venous thromboembolism (VTE). However, FVL is very common in the population, and many individuals with the variant will never have a VTE. For these reasons, the ramifications of carrying FVL may present challenging management decisions, both with respect to primary prevention and prevention of recurrent VTE. […] This topic review discusses the diagnosis of FVL and the management of individuals who carry this variant. A brief overview of FVL genetic testing is presented separately. […] Venous thromboembolism in pregnancy: Epidemiology, pathogenesis, and risk factors.

• #23 Sign up for our newsletter

  https://www.pbi.org.au/news/factor-v-leiden

  A retrospective study published in January 2023, investigated the association between factor V Leiden and COVID-19. The occurrence of FVL mutation detected in COVID-19 patients with a history of thrombotic events was higher than in those without a record of thrombosis. Therefore, FVL can be viewed as a significant risk factor towards an elevated progression of the COVID-19 infection in regard to morbidity and mortality. It is recommended that FVL should be explored in COVID-19 patients and used as a prognostic factor for suitable treatments.

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