1. Factor V Leiden / Thrombophilia Support Page - Living With Thrombophilia This site contains information for those living with Thrombophilia or factor v leiden. FVL Thrombophilia Support Page. http://www.fvleiden.org/

Home Mailing List Programs Reference ... Search Factor V Leiden Prothrombin 20210 Mutation Activated Protein C Resistance Antithrombin Deficiency and other clotting disorders If you have comments, questions, or want to post something on this web site, please send email to Deborah Okner Smith Why am I doing this? page updated 4/11/2004 links updated 12/13/03 Factor V Leiden is the most common hereditary blood coagualtion disorder in the United States. It is present 5% of the in the Caucasian population and 1.2% of the Afro-American population. Factor V Leiden increases the risk of venous thrombosis 3-8 fold for heterozygous (one bad gene inherited) and substantially more, 30-140 fold, for homozygous (two bad gene inherited) individuals. The prothrombin 20210 mutation is the second most common inherited clotting abnormality. It is more common than protein S and C deficiency and Antithrombin deficiency combined; 2% of the general population is heterozygous. It is only a mild risk factor for clots, but together with other risk factors (such as oral contraceptives, surgery, trauma, high blood pressure, obesity, smoking, etc) or combined with other clotting disorders (like Factor V Leiden), the risk of clotting increases dramatically. Factor V Leiden can be associated with the following complications: Venous Thrombosis blood clots in veins, such as:

2. Factor V Leiden Thrombophilia factor v leiden Thrombophilia. Table 1. Molecular Genetic Testing Used in factor v leiden. % of Patients. Genetic Mechanism. Test Type. Test Availability. http://www.geneclinics.org/profiles/factor-v-leiden/details.html

3. Factor V Leiden Patient Resources factor v leiden. Associated with factor v leiden, APCR was first described in 1993; factor v leiden was subsequently discovered in 1994. http://www-admin.med.uiuc.edu/hematology/PtFacV2.htm

University of Illinois - Urbana/Champaign Carle Cancer Center Hematology Resource Page Patient Resources Factor V Leiden Home Factor V Leiden Antiphospholipid Syndrome General Clotting Information ... Protein S deficiency Factor V Leiden is a genetically acquired trait that can result in a thrombophilic (hypercoaguable) state resulting in the phenomenon of activated protein C resistance (APCR) as described below. Associated with factor V Leiden, APCR was first described in 1993; factor V Leiden was subsequently discovered in 1994. Over 95% of patients with APCR have factor V Leiden. Factor V Leiden's overall impact on the coagulation cascade described below. Mechanism of Action of Factor V Leiden: Factor V Leiden is characterized by a phenomenon called APCR where a genetic mutation in the factor V gene causes a change in the factor V protein making it resistant to inactivation by protein C. Epidemiology of Factor V Leiden: Factor V Leiden is seen more commonly in the northern European populations. About 4-7% of the general population is heterozygous (see * below) for factor V Leiden. About 0.06 to 0.25% of the population is homozygous (see * below) for factor V Leiden. The factor V Leiden mutation is relatively uncommon in the native populations of Asia, Africa and North America. In contrast, in Greece and southern Sweden, rates above 10% have been reported.

4. Factor V Leiden Informatieve site over alles wat met trombose en (erfelijke)stollingsafwijkingen te maken heeft, toegespitst op faktor V Leiden. http://www.factorvleiden.nl/

Sitemap Lotgenotencontact Forum E-mail ... Redactie Dit ad(d)ertje onder het gras, leid je direct naar de mailinglist Startpagina N ieuws T ... Links Z oek je al lang naar begrijpelijke informatie over Factor V Leiden? Heb je vragen over Factor V Leiden waarop je arts geen antwoord weet? Zoek je informatie over Factor V Leiden of andere stollingsafwijkingen of ben je gewoon op zoek naar Je hebt het goede adres gevonden. Zelf zochten wij het internet af op zoek naar begrijpelijke informatie. Omdat wij niets konden vinden, hebben we zelf een site gebouwd. Wij zijn geen artsen, maar ervaringsdeskundigen. Wijs geworden door het uitwisselen van kennis en ervaringen op onze mailinglist . Wij actualiseren deze site maandelijks met informatie vanuit de mailinglist, informatie uit medische artikelen en informatie die wij van artsen krijgen. Deze kennis willen wij graag met je delen, omdat we het belangrijk vinden dat er meer bekendheid komt over Factor V Leiden. Daarnaast willen we op deze manier bijdragen aan een juiste behandeling van "dragers" van deze stollingsafwijkingen. Het begon eigenlijk met de stollingsafwijking Factor V Leiden, maar dit is gaandeweg uitgebreid naar verschillende

5. Factor V Leiden factor v leiden (thrombophilia) factor v leiden profile, GeneClinics, University of Washington 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 Consensus statement on factor V Leiden mutation testing , American College of Medical Genetics (2001) To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

6. Pregnancy, Clotting, And Factor V Leiden: An Overview Pregnancy, Clotting, and factor v leiden An Overview. The past 10 years have brought new understanding of and explanations why. some women clot on birth control pills and during pregnancy. Research http://www.naturalchildbirth.org/natural/resources/prebirth/prebirth35.htm

Pregnancy, Clotting, and Factor V Leiden: An Overview The past 10 years have brought new understanding of and explanations why some women clot on birth control pills and during pregnancy. Research into genetic origins of disease has uncovered many coagulopathies, some of them surprisingly common. The most common is Factor V Leiden, also known as Activated Protein C Resistance, which carries a 3-10 times greater risk of clot when someone has one copy of the gene and 30-140 times greater risk of clotting for someone with two copies. Between 3% and 10% of Caucasian people are heterozygous for Factor V Leiden, and a much smaller percentage are homozygous. In Sweden the rate of heterozygous mutation may be as high as 15% in some areas, while in other parts of the world and among other races only a fraction of a percent of the population may have it. It is thought that the original mutation occurred as much as 20,000-30,000 years ago in a single individual.(1) Women with Factor V Leiden (FVL) have a substantially increased risk of clotting in pregnancy (and on estrogen containing birth control pills or hormone replacement) in the form of DVT (deep vein thrombosis, sometimes

7. Factor V Leiden / Thrombophilia Support Page - Links This site contains information for those living with Thrombophilia or factor v leiden. FVL Thrombophilia Support Page. Home Mailing http://www.fvleiden.org/links.html

Home Mailing List Programs Reference ... Reference - Links Nine years ago when I searched the web for the first time, I only found one article on fvl. Now if you search, you'll find many articles. This list is not exhaustive or comprehensive. It is a sampling of what's out there. If you want to read up on APC, APS, FVL or any other clotting disorder go to one of the major search engines and put in a variety of spellings for the disorder. You will find many articles. Please also be sure to look at our Education Section , which contains locally-hosted documents regarding FVL and Thrombophilia. Finding a doctor in your state that knows how to treat FVL-Just click on your state Doctors that have been recommended by members on the FVL mailing list Links for FVL Venous Thrombosis and the Factor V (Leiden) Mutation University of Illinois-Factor V Leiden Patient Information (excellent graphics and explanations) Pregnancy, Clotting, and Factor V Leiden: An Overview A profile of Factor V Leiden ... Factor V Leiden Mutation Analysis APC and Protein S Deficiency articles: Resistance to activated protein C due to Factor V R506Q (Factor V Leiden) Protein S Deficiency and Thrombophilia web page from the UK EMedicine Protein S Deficiency Resistance to activated protein C due to Factor VR506Q(factor V Leiden) ... Resistance to activated protein C due to Factor V Leiden General links regarding clotting and/or thrombosis information: ClotCare - online Resource Venus handbook -all clotting disorders explained Yahoo Thrombosis Group Vitamin K resource ... AirHealth.org - How to avoid getting a DVT while traveling

8. Factor V Leiden factor v leiden is a genetically acquired trait that can result in a thrombophilic (hypercoaguable) state with APCR have factor v leiden. factor v leiden's overall impact on http://www.med.uiuc.edu/hematology/PtFacV2.htm

9. GeneReviews: Factor V Leiden Thrombophilia Your browser does not support HTML frames so you must view factor v leiden Thrombophilia in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/factor-v-leiden/

Your browser does not support HTML frames so you must view Factor V Leiden Thrombophilia in a slightly less readable form. Please follow this link to do so.

10. Predictive Genetics And DNA Diagnostics - Home Offers home collection kits for a range of tests including angiotensinogen, factor v leiden, hereditary hemochromatosis, periodontal disease and prothrombin. http://www.pgd2.com/

We provide genetic testing to promote a longer, healthier life. Genetic testing will allow those who are concerned about predisposition and family history to take preventative steps early. Testing is available nationwide. Our first priority is to our patients. In carrying out our day-to day business we: Treat our patients with respect and fairness. Provide quality testing with one of the fastest turn around times in the industry. Offer comprehensive follow-up to our patients and their families. Want to learn more about DNA? DNA Mutations Inheritance Why should I get tested? Home ... Contact Us

11. Page Not Found Discusses the thrombotic risks of this inherited disorder, also known as factor v leiden. http://www.beckmancoulter.com/Coulter/Techpubs/coagulation/APC.asp

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12. Genaissance - Solutions - GLP Genotyping - Factor V Leiden Available Assays. Choose an Assay A2M. APOE. COMT. CYP2A6. CYP2C9. CYP2C19. CYP2D6. CYP3A4. CYP3A5. DRD2. F2. factor v leiden. FLT3. MDR1. NAT2. PPAR. SDC4. UGT1A1. 5HTT with a 50 to 100fold http://www.genaissance.com/products_services/capabilitiesServices_cg_factor.asp

Available Assays Choose an Assay... APOE COMT Factor V Leiden PPAR This mutation is in the initial cleavage site of Factor Va, which disrupts the recognition by Activate Protein C. The result is a long-lived Factor Va and a hypercoaguable state. The clinical name for this condition is Activate Protein C resistance (APCR), which is the most common inherited risk factor in venous thrombosis. Heterozygosity for this mutation is associated with a 5 to 10-fold increased risk of developing a venous thrombitic episode while homozygosity for this mutation is associated with a 50 to 100-fold increased risk. Factor V Leiden is associated with the following complications: venous thrombosis (blood clots, especially with oral contraceptives); deep vein thrombosis (DVT, blood clots in veins); unexplained miscarriage; blood clots in the lungs or anywhere else; gall bladder dysfunction; preeclampsia and/or eclampsia (toxemia while pregnant); and stroke and/or heart attack. Phenotype expression: Blood clots Therapeutic significance: Cardiovascular disease What gene codes for: Clotting factor Indications for use of assay: Concern of thrombophilia Allele Description: The FV allele is a G1691 to A substitution that results in an Arg506 to Gln amino acid change.

13. 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. The factor v leiden. Reviewed http://www.netdoctor.co.uk/diseases/facts/factorv.htm

NetDoctor.co.uk Home News and features News Newsletter Features Encyclopaedia Diseases Examinations Medicines Premium services SMS services StayQuit thediet Health centres Allergy and asthma Children's health Depression Eczema ... All health centres Discussion and support Discussion forums Support groups Services Ask the doctor Find a hospital Search Medline Test yourself Information About NetDoctor Commercial opportunities NetDoctor.com Factor V Leiden Dr Patrick Davey , cardiologist Dr Rachel Green , consultant haematologist What is Factor V Leiden? The role of Factor V Leiden is still uncertain. 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.

14. C factor v leidenDeborah L. Ornstein, MD; Mary Cushman, MD, MScYou may have been tested for the gene for factor V. factor v leiden is an abnormal ver http://circ.ahajournals.org/cgi/reprint/107/15/e94.pdf

15. MSRGSNet/Genetic Drift/Venous Thrombosis And The Factor V (Leiden) Mutation Venous Thrombosis and the Factor V (Leiden) Mutation. The factor V mutation (factor v leiden) is the most common genetic cause of venous thrombosis. 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.

16. MoSt GeNe/Genetic Drift/Prenatal Diagnosis 20 Fall 2002. Heterozygote Counseling for the factor v leiden Mutation. factor v leiden is not known to be associated with arterial thrombosis. http://www.mostgene.org/gd/gdvol20g.htm

Previous Section 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.

17. Factor V Leiden Syndrome The term "factor v leiden" refers to specific G to A substitution at nucleotide 1691 in the no clinical features specific for factor v leiden the primary clinical manifestation http://www.ibis-birthdefects.org/start/f5fact.htm

Factor V Leiden Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings A Selection of Internet Sites [*] Outstanding [P] For Professionals [Spanish] [*][P] Factor V Leiden Thrombophilia GeneClinics: Medical Genetics Knowledge Base, April 1999. A superb presentation by J. Kujovich and S. Goodnight. [*][P] Factor V. Leiden APC Resistance Omim comprehensive clinical and genetic review - 1998. [P] Mutation in blood coagulation factor V Extracts from the Seminole paper by R. M. Bertina et al, Nature, 369: 64, 1994. "... single point mutation in the gene for the blood coagulation protein factor V ... 20 percent of all patients with venous thrombosis as well as 4 percent of the general population are carriers of this mutations ..." This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Please read full Always seek the advice of your local health care provider.

18. Case Study: Factor V Leiden And Venous Thrombosis Overview Your browser does not support script. factor v leiden and Venous Thrombosis Case Study, Educational Objectives. factor v leiden and Venous Thrombosis Overview. http://www.cdc.gov/genomics/hugenet/CaseStudy/FVL/FVLview.htm

Your browser does not support script Factor V Leiden and Venous Thrombosis Case Study 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. Factor V Leiden and Venous Thrombosis Overview V enous 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.

19. E-joiurnal: Factor V Leiden Mutation And The Risk Of Venous Thrombolembolism In April 17, 2002. factor v leiden Mutation and the Risk of Venous Thrombolembolism in Pregnant Women. EJournal Club abstraction form on Tormene D et al. http://www.cdc.gov/genomics/hugenet/ejournal/fvlmutation.htm

Your browser does not support script April 17, 2002 Factor V Leiden Mutation and the Risk of Venous Thrombolembolism in Pregnant Women E-Journal Club abstraction form on Tormene D et al. Viola Vaccarino, MD, PhD Emory University Past issues The Health Outcome Pregnancy and puerperium are known risk factors for venous thromboembolism (VTE) (1, 2). The incidence of VTE during pregnancy is 1 per 1,000 (1,2) and increases 10 times during the postpartum period (3). These incidence rates are considerably higher than those reported for women of similar age in the general population. A variety of clotting inhibitor deficiencies have been identified as risk factors for VTE in pregnancy, but most of these defects are rare. Factor V Leiden mutation is relatively common: it affects 5% of the southern European population. The Finding The purpose of the study by Tormene et al. (4), therefore, was to assess the relation between factor V Leiden mutation and incidence of pregnancy-related VTE using a case-control design. Study subjects were

20. Entrez PubMed The role of factor v leiden mutation in recurrent pregnancy loss. ClearyGoldman J, Nakhuda GS, Zimmermann RC, Sauer MV. Department http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

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