21. MSRGSNet/Genetic Drift/Venous Thrombosis And The Factor V (Leiden) Mutation The factor V mutation (factor v leiden) is the most common genetic cause of venous thrombosis. It is involved in 2040% of cases and is present in 3% of the http://www.mostgene.org/gd/gdvol14b.htm

Previous Section This Issue- Table of Contents Next Section Vol. 14: Spring, 1997 Molecular Genetic Testing in Mainstream Medicine Venous Thrombosis and the Factor V (Leiden) Mutation Introduction Who should be tested? Deep vein thrombosis and pulmonary embolism Known genetic causes ... Illustrative case report Introduction Who should be tested? Indications include: Venous thrombosis or pulmonary embolism Transient ischemic attacks or premature stroke Peripheral vascular disease, particularly lower extremity occlusive disease History of a thrombotic event Family history of thrombosis or known factor V mutation in a relative Prior to major surgery, pregnancy, postpartum, oral contraceptive use or estrogen therapy if there is a personal or family history of thrombosis. Previous finding of activated protein C resistance by laboratory analysis Deep vein thrombosis and pulmonary embolism Venous thrombosis and pulmonary embolism pose a serious health problem. In this country half a million people are hospitalized each year and 50,000-100,000 deaths occur due to venous thrombosis which is also a leading cause of maternal death. The incidence of symptomatic venous thrombosis cases is approximately 1 in 1000 people per year. Venous thrombosis is a multifactorial condition caused by a combination of genetic, aquired or environmental influences. Natural anticoagulant systems (the protein C system and antithrombin III) are in place to keep coagulation in check. Excess clotting occurs when there is a disturbance in one of the coagulation inhibitor mechanisms or in natural lysis of clots.

22. Factor V Leiden And Perioperative Risk Donahue 98 (6) 1623 factor v leiden and Perioperative Risk Brian S. Donahue, MD, PhD Department of Anesthesiology, Vanderbilt University, Nashville, Tennessee http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Mountain States Genetics Network Homepage Heterozygosity for the Leiden mutation in the factor V gene (FVL) is common and factor v leiden is not known to be associated with arterial thrombosis. http://www.mostgene.org/gd/gdvol20g.htm

Home About the Network Our Online Publications Regional Directory of Genetic Services ... Online Genetic Support Groups Directory Topics Genetic Services Genetic Testing Education Newborn Screening ... This Issue- Table of Contents Genetic Considerations in Thrombotic Disorders Vol. 20: Fall 2002 Heterozygote Counseling for the Factor V Leiden Mutation Heterozygosity for the Leiden mutation in the factor V gene (FVL) is common and may present complex counseling issues. Heterozygosity refers to the situation when an individual has a single Leiden mutation in one of the factor V genes (see Adult Thrombotic Disorders in this issue of the Genetic Drift ). It is inherited in an autosomal dominant manner, and may be identified in individuals with thrombosis or their family members. Heterozygotes exhibit reduced penetrance, meaning some individuals will never exhibit symptoms. In this condition, at least 90% of heterozygotes are asymptomatic throughout their lives. The heterozygote frequency is 5% of the Caucasian US population, 2% of Hispanic Americans, about 1% of African Americans and Native Americans, and less than 1% of Asian Americans. In the general population, deep vein thrombosis occurs in 1 in 1,000 individuals. Heterozygosity for FVL confers a 4-8-fold increased lifetime risk for deep vein thrombosis, yet thrombosis occurs with other circumstantial factors in 50% of cases. Twenty to sixty percent of Caucasians with thrombosis have FVL, and most of these are heterozygotes. Homozygotes, or those with two copies of the faulty gene, have up to an 80-fold risk for thrombosis. For genetic counseling of heterozygotes, it is useful to divide the asymptomatic from the symptomatic, and adults from children.

24. Factor V Leiden -- Ornstein And Cushman 107 (15): 94 -- Circulation This Cardiology Patient Page will concentrate on factor v leiden, the most common If this applies to you, then you are homozygous for factor v leiden, http://circ.ahajournals.org/cgi/content/full/107/15/e94

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Ornstein, D. L. Articles by Cushman, M. Related Collections Deep vein thrombosis Heparin Coumarins Thrombophilia ... Thrombosis risk factors Circulation. Cardiology Patient Page Factor V Leiden Deborah L. Ornstein, MD Mary Cushman, MD, MSc From the Departments of Medicine (D.L.O., M.C.) and Pathology (M.C.), Hematology/Oncology Unit, University of Vermont/Fletcher Allen Health Care, Burlington, Vt. Correspondence to Deborah L. Ornstein, MD, Department of Medicine, Vermont Center for Thrombosis and Hemostasis, University of Vermont/Fletcher Allen Health Care, UHC Campus, St Joseph 3, 1 South Prospect St, Burlington, VT 05401. E-mail You may have been tested for the condition known as factor V Leiden (pronounced factor five lye -den) because you or someone in your family has had a blood clot in one of the deep veins of the body (also called deep vein thrombosis, or DVT) or a

25. Factor V Leiden And PT 20210: The Test Explains how factor v leiden and PT 20210 are used; when factor v leiden and PT 20210 are used; what the results of factor v leiden and PT 20210 might mean. http://www.labtestsonline.org/understanding/analytes/factor_v_and_pt20210/test.h

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldolase Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Ammonia Amylase ANA Antibody Tests Antiglobulin, Direct Antiglobulin, Indirect Antiphospholipids Antithrombin Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bicarbonate Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcitonin Calcium Cardiac Biomarkers Cardiac Risk Cardiolipin Antibodies Catecholamines CBC CCP C. diff CEA Celiac Disease Tests CF Gene Mutation Chemistry Panels Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity

26. Factor V Leiden And PT 20210: At A Glance Why get the factor v leiden test and PT 20210 test; when to get the factor v leiden test and PT 20210 test for venous thromboembolism; what sample is http://www.labtestsonline.org/understanding/analytes/factor_v_and_pt20210/glance

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldolase Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Ammonia Amylase ANA Antibody Tests Antiglobulin, Direct Antiglobulin, Indirect Antiphospholipids Antithrombin Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bicarbonate Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcitonin Calcium Cardiac Biomarkers Cardiac Risk Cardiolipin Antibodies Catecholamines CBC CCP C. diff CEA Celiac Disease Tests CF Gene Mutation Chemistry Panels Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity

27. Consensus Statement On Factor V Leiden Mutation Testing The factor v leiden (R506Q) mutation is currently the only molecular analysis of The factor v leiden mutation test should be performed using any of the http://www.acmg.net/resources/policies/pol-009.asp

American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing Wayne W. Grody, MD, PhD , John H. Griffin, PhD , Annette K. Taylor, MS, PhD , Bruce R. Korf, MD, PhD , and John A. Heit, MD (ACMG Factor V Leiden Working Group) From the: Divisions of Medical Genetics and Molecular Pathology, UCLA School of Medicine, Los Angeles, California; Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California; Kimball Genetics, Denver, Colorado; Division of Genetics and Department of Neurology, Children's Hospital and Harvard Medical School, Boston, Massachusetts; Department of Medicine, Mayo Clinic and Foundation, Rochester, Minnesota. SUMMARY OF ISSUES AND RECOMMENDATIONS Issue 1: Which methodology should be used: Factor V Leiden DNA testing or functional activated protein C (APC) resistance testing? Recommendation 1 When appropriate clinical care requires testing for the factor V Leiden allele, either direct DNA-based genotyping or a factor V Leiden-specific functional assay is recommended. Patients who test positive by a functional assay should then be further studied with the DNA test for confirmation and to distinguish heterozygotes from homozygotes. Patients on heparin therapy or with known lupus anticoagulant should proceed directly to molecular testing if the modified functional assay is not used. When relatives of individuals known to have factor V Leiden are tested, the DNA method is recommended. Issue 2: Who should be tested?

28. BHF Any Questions? - Factor V Leiden (family History) The British Heart Foundation (BHF) is the leading national charity fighting heart and circulatory disease the UK s biggest killer. The BHF funds research, http://www.bhf.org.uk/questions/index.asp?secondlevel=1167&thirdlevel=1354

29. Public Health Genetics Unit: Thrombophilia And Leiden Factor V factor v leiden is the most common form of hereditary thrombophilia in the UK. The factor v leiden mutation was first identified in 1994 and is present http://www.phgu.org.uk/info_database/diseases/thrombosis/thrombophilia.html

Text-only sitemap Home About Newsletter ... Search Thrombophilia and Leiden Factor V See Explanatory Notes Contents: Genetics Factor V (Leiden) thrombophilia Other hereditary forms of thrombophilia Gene-environment interactions ... On-line information Thrombophilia is the term used to refer to an inherited or acquired disorder of the haemostatic (blood clotting) system that causes an increased risk of venous thrombosis (blood clots in the veins). Examples of venous thrombosis include DVT (deep vein thrombosis) of the limbs or pulmonary embolism; these conditions are sometimes grouped together as venous thromboembolism, or VTE. The incidence of VTE in the general populations of Western countries is around 1-3 per 1000 individuals. Treatment of venous thromboembolism uses anti-coagulants, typically heparin in the acute phase of VTE followed by a period of treatment with coumadin to prevent further VTEs. Long-term management of patients who have experienced thrombosis includes avoidance of risk factors that make thromboembolism more likely, and the use of prophylactic (preventative) anti-coagulant therapy in situations where risk is known to be increased, for instance during surgery. Genetics Factor V (Leiden) thrombophilia Inherited thrombophilia is a genetically determined predisposition to venous thromboembolism, and may be caused by a number of known mutations. Factor V Leiden is the most common form of hereditary thrombophilia in the UK. Between 3 and 7% of the Caucasian population have a single copy of the mutant Factor V Leiden gene (

30. Factor V Leiden links to national and international support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/leiden.html

Factor V Leiden (thrombophilia) Factor V Leiden profile , GeneClinics, University of Washington Deep Vein Thrombosis , DVT.net DeepVein Thrombosis (DVT), Spotlight Health Thrombophilia Support Page (FVL), by individual Factor V Leiden and Venous Thrombosis Case Study , Centers for Disease Control (CDC) Hereditary Thrombophilia , Contact a Family, Canada contact a family in your area Pregnancy Increased frequency of genetic thrombophilia in women with complications of pregnancy , Journal Article, NEJM vol 340, pg 9-13, Jan 7, 1999 [correction] Also See: National organizations information on genetic conditions or birth defects Overview of Thrombophilia (.pdf) National Hemophilia Foundation Confusing Coagulation Test Names , UAB Coagulation Service, University of Alabama To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 2, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

31. Factor V Leiden Mutation If followup factor v leiden mutation test is indicated, factor v leiden mutation confers a 2 to 8-fold increased risk of venous thrombosis. http://peir.path.uab.edu/coag/article_56.shtml

Front Page Announcements Contact Us Clinical Conditions ... Test Order Form Search All Categories Front Page Announcements Contact Us Clinical Conditions Guidelines Links Patient Information Test Menu Test Order Form Test Menu Factor V Leiden Mutation Email this article Printer friendly page Primary Name Factor V Leiden mutation Synonym Factor V gene mutation Synonym Leiden gene mutation Contraction FVL Contraction Occasionally confused with factor V activity Contraction UAB Procedure Number CPT Code Specimen Collect one (1) blue-stopper tube (3.2% sodium citrate), filled to specified volume for APC resistance assay. Do not underfill or overfill. Also collect one (1) lavender-stopper tube (EDTA) whole blood. Specimen Management Centrifuge blue-stopper tube within 1 hour of collection, separate plasma and test or quick-freeze at -70°C. If follow-up factor V Leiden mutation test is indicated, the lavender-stopper tube may be refrigerated up to 72 hours before shipping. Ship overnight at ambient temperature or on wet ice. Specimen Accepted Daily including weekends Times Available Test Performed Factor V Leiden assay performed by reference laboratory. Results available in five days.

32. Confusing Coagulation Test Names Is it the Factor V Activity Assay or the factor v leiden Mutation Test? When the factor v leiden mutation assay is ordered, the laboratory first http://peir.path.uab.edu/coag/article_187.shtml

Reference Confusing Coagulation Test Names Email this article Printer friendly page Is it the Factor V Activity Assay or the Factor V Leiden Mutation Test? Factor V activity assay is rarely ordered The most common purpose for ordering the factor V activity assay is to assist with the differential diagnosis of liver disease. The factor V activity assay is also ordered to establish the presence of an inherited factor V deficiency. Factor V deficiencies are very rare and are associated with severe bleeding in infancy. The factor V Leiden mutation test is ordered often The factor V Leiden mutation is present in 3-8% of Caucasians, Arabs and Hispanics and confers a 2- to 8-fold risk of thrombosis (80-fold when homozygous). The factor V Leiden mutation test is usually ordered as part of a thrombophilia profile that includes antithrombin (AT, ATIII), protein C (PC), protein S (PS), factor VIII (for elevated factor VIII), prothrombin G20210A mutation , homocysteine, and lupus anticoagulant (LAC). When the factor V Leiden mutation assay is ordered, the laboratory first performs the activated protein C resistance (APCR) assay, which is an effective screen. The factor V Leiden mutation molecular test is only performed when the APCR ratio is less than 1.8.

33. Factor V Leiden factor v leiden is not a disease, it is the presence of a particular gene factor v leiden is a variant of the protein Factor V (5) which is needed for http://www.tiscali.co.uk/lifestyle/healthfitness/health_advice/netdoctor/archive

// Show bread crumbs navigation path. breadcrumbs('five'); //> From: www.tiscali.co.uk/lifestyle/ Calculators Calorie Counter Diseases Examinations ... Medicines Frames not supported Frames not supported HOTLINKS Health shop Health forum Health amd Nutrition Diseases ... F Factor V Leiden Reviewed by Dr Patrick Davey, cardiologist and Dr Rachel Green, consultant haematologist What is Factor V Leiden? Factor V Leiden is not a disease, it is the presence of a particular gene that is passed on from your parents. Factor V Leiden is a variant of the protein Factor V (5) which is needed for blood clotting. People who have a Factor V deficiency are more likely to bleed badly while people with Factor V Leiden have blood that has an increased tendency to clot. People carrying the Factor V Leiden gene have a five times greater risk of developing a blood clot (thrombosis) than the rest of the population. However, many people with the gene will never suffer from blood clots. In Britain, five per cent of the population carry one or more genes for Factor V Leiden, which is far more than the number of people who will actually suffer from thrombosis. How do you get Factor V Leiden?

34. Factor V Leiden How is factor v leiden treated during pregnancy? Women carrying two genes for factor v leiden will need to receive treatment with a heparin anticoagulant http://www.tiscali.co.uk/lifestyle/healthfitness/health_advice/netdoctor/archive

// Show bread crumbs navigation path. breadcrumbs('five'); //> From: www.tiscali.co.uk/lifestyle/ Calculators Calorie Counter Diseases Examinations ... Medicines Frames not supported Frames not supported HOTLINKS Health shop Health forum Health amd Nutrition Diseases ... F Factor V Leiden (Contd) Reviewed by Dr Patrick Davey, cardiologist and Dr Rachel Green, consultant haematologist How is Factor V Leiden treated during pregnancy? Women carrying two genes for Factor V Leiden will need to receive treatment with a heparin anticoagulant medicine during pregnancy. The same applies to women carrying just one gene for Factor V Leiden who have previously had a blood clot themselves or who have a family history of blood clots. All women carrying a gene for Factor V Leiden may need to wear special stockings to prevent clots during the last half of pregnancy. After the birth of the child they may be prescribed the anticoagulant drug heparin. Prognosis The risk of developing a clot increases with age, but in a survey of people over the age of 100 who carry the gene, it was found that only a few had ever suffered from thrombosis. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. The materials in this web site cannot and should not be used as a basis for diagnosis or choice of treatment.

35. Genomics|HuGENet™|Case Study|FVL|Overview Case Study. arrow. Bibliography. arrow. Medline Search Additional information on factor v leiden and Venous Thrombosis http://www.cdc.gov/genomics/hugenet/CaseStudy/FVL/FVLview.htm

home case study Archived: Dec. 2001 Factor V Leiden and Venous Thrombosis All case studies Summaries Bibliography Reader's Forum Educational Objectives After reading this case study you should be able to: identify key characteristics of the study population (cases and controls) that should be described when reporting results of gene-disease association studies. summarize gene-disease associations in terms of absolute, relative and attributable risks. discuss possible implications of the findings for researchers, people with Venous Thrombosis, and people with one or more of the newly described Factor V Leiden variants. Venous thrombosis is an important cause of morbidity; incidence is low in young people but increases with age to 1% per year in the elderly. In a small proportion of cases, venous thrombosis leads to pulmonary embolism, which can be fatal. Persons with an initial venous thrombosis are at increased risk for recurrence; however, long-term use of anticoagulant prophylaxis can result in major hemorrhagic complications. This challenging clinical problem has received new attention since the discovery of certain genetic variants that increase susceptibility to venous thrombosis. Under normal conditions, procoagulant and anticoagulant factors in the blood are in balance. However, persons with inherited alterations in proteins that promote or prevent coagulation may be predisposed to excessive bleeding (as in hemophilia) or clotting (thrombophilia). Persons with thrombophilia are at increased risk of developing clots that obstruct blood flow locally or that detach and embolize. Environmental factors that cause vascular injury (e.g., surgery), stasis (e.g., prolonged immobility), or increased coagulability (e.g., hormone use) interact with genetic susceptibility to increase the risk for thrombosis.

36. Factor V Leiden: Should All Pregnant Women Be Tested For Clotting Disorders? About five percent of Caucasians and one percent of AfricanAmericans have one gene for this mutation and only 0.1 percent have both, which makes them very http://parenting.ivillage.com/pregnancy/psecondtri/0,,j1gs,00.html

var iv_cimsUid = "433344"; var iv_cimsCid = "129370"; var iv_createDate = "04/25/2002"; var iv_lastModDate = "04/25/2005"; // Tacoda category stamp var dartCatStamp = "parenting_pregnancy_psecondtri_psttests"; Tacoda_AMS_DDC_addPair("dartCatStamp", dartCatStamp); var iv_secondarytopicID = 129365; @import "/shared/css/global/0,,,00.css"; @import "/shared/css/layout/0,,layout_article,00.css"; @import "/shared/css/content/0,,qa,00.css"; @import "/shared/css/channel/0,,12,00.css"; Skip to Main Content iVillage Entertainment Magazines iVillage web Pregnancy 2nd Trimester Trying to Conceive Fertility Planner ... more newsletters Factor V Leiden: Should all pregnant women be tested for clotting disorders? by Peg Plumbo, CNM (see more from this expert) Email this page Print Maternal ... serum-alpha-fetoprotein... [article] Enhanced MSAFP screening CVS in early pregnancy ... Accurate for... One of my friends experienced a stillbirth. It was later discovered, through a simple blood test, that she has a blood clotting disorder (Factor V Leiden and protein C deficiency). If she, or more importantly, her doctors had known of this inherited clotting disorder, she believes her baby would be alive today. Shouldn't there be testing of all pregnant women to prevent tragedies like this from occurring? I am sorry for your friend's loss. Unfortunately, this issue is not so cut and dry. About five percent of Caucasians and one percent of African-Americans have one gene for this mutation and only 0.1 percent have both, which makes them very susceptible to thrombosis.

37. Factor V Leiden - Wikipedia, The Free Encyclopedia factor v leiden (sometimes Factor VLeiden) is a hypercoagulability disorder Suspicion of factor v leiden being the cause for any thrombotic event should http://en.wikipedia.org/wiki/Factor_V_Leiden

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Factor V Leiden From Wikipedia, the free encyclopedia. Factor V Leiden (sometimes Factor V Leiden ) is a hypercoagulability disorder in which Factor V , one of the coagulation factors , cannot be deactivated. Factor V Leiden is the most common hereditary hypercoagulability clotting disorder amongst Eurasians , possibly affecting up to 5% of the population of the U.S. It is named after the city Leiden The Netherlands ), where it was first identified in by Prof R. Bertina et al Contents Pathophysiology Epidemiology Diagnosis References ... edit Pathophysiology It is an autosomal dominant condition in which the coagulation factor has a mutation and cannot be destroyed by activated protein C (aPC). It is a single nucleotide substitution of adenine for guanine - which causes an amino acid substitution of glutamine for arginine at position 506, the cleavage site for protein C. As factor V cannot be inactivated, it continues to facilitate production of thrombin, and so

38. Factor V Leiden Genetic Testing S10 2QN, factor v leiden, P20210A, Citrated whole blood. personal email, Manager / other staff, Year started, Recognised UK NEQAS. talwoods@coageqa. http://www.ukneqas.org.uk/Directory/HAEM/fact5lei.htm

United Kingdom National External Quality Assessment Service "helping to ensure clinical laboratory test results are accurate, reliable and comparable wherever they are produced" Navigation About EQA Directory Scheme Webs ... Participants Director Address Investigations covered Material distributed Professor I D Walker Rutledge Mews 3 Southbourne Road Sheffield Factor V Leiden, P20210A Citrated whole blood personal email Manager / other staff Year started Recognised UK NEQAS talwoods@coageqa. org.uk Mr TAL Woods telephone scheme email CPA(UK) Accreditation Distributions / samples coag@ukneqas.org.uk Awaiting inspection fax scheme web UK public/private labs UK non-clinical labs www.ukneqasbc.org Performance assessment Information provided Non-UK labs by country Availability The purpose of the scheme is to provide external quality assessment of genetic tests for disorders of haemostasis, in the first instance, the Factor V Leiden mutation In addition to the main function of EQA, the scheme also hopes to offer advisory support in trouble-shooting. Meetings for participants are organised on an annual basis (c.f.), with presentations from authoritative speakers and open discussion on current scheme issues

39. Factor V Leiden Definition - Medical Dictionary Definitions Of Popular Medical T Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=25022

40. ARUP Factor V Leiden, Fetal Negative This sample is negative for factor v leiden, Arg506Glu mutation. The factor v leiden mutation is the most common genetic risk factor for http://www.aruplab.com/guides/ug/tests/0050766.jsp

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