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2.1
Thrombophilia due to Activated-Protein C Resistance
Factor V Cambridge Thrombophilia

Images

WIKIDATA, Public Domain

Presentation

Here we describe the case of an elderly male who was a chronic smoker and a hypertensive, who presented to us with a neuro-deficit secondary to a pontineinfarct. [mayoclinic.pure.elsevier.com]

Because DNA typing has become easy and convenient in contrast to protein characterization, it is generally assumed that a mutation if present (or not) at the DNA level will be also present (or not) in the corresponding protein. [sveb.unife.it]

An associated protein C or protein S deficiency was present in 5 families (10 %). [karger.com]

Indiscriminate testing for heritable thrombophilias in unselected patients presenting with a first episode of venous thrombosis is not indicated. [patient.info]

No supply to the fistula from either internal carotid artery was present. [ajnr.org]

Entire Body System

  • Weakness

    Beyond these inherent and hence unchangeable prerequisites, studies performed on APC resistance and stroke generally suffer from two main weaknesses. [journals.plos.org]

    Very high factor VIII levels, for example in connection with pregnancy and inflammatory states, have been reported to lower the APC ratio, although the actual correlation between factor VIII activity and the APC ratio appears to be weak. [diapharma.com]

    […] several meta-analyses found an increased risk for preeclampsia in women with Factor V Leiden. 66, 98 – 100 Other studies found no association. 88, 101 – 103 The conflicting results of these studies suggest that Factor V Leiden heterozygosity has at most a weak [nature.com]

Cardiovascular

  • Thrombosis

    ROSENDAAL, Etiology of venous thrombosis: the need for small original studies, Journal of Thrombosis and Haemostasis, 10, 10, (2189-2190), (2012). Edward M. [doi.org]

    A poor APC response may also result from acquired conditions, some of which are clearly involved in the pathogenesis of venous thrombosis. [ncbi.nlm.nih.gov]

  • Vascular Disease

    Elevated circulating homocysteine levels in placental vascular disease and associated pre-eclampsia. Br J Obstet Gynaecol 2000;107:935-8. 9. Kahn SR. [ijpmonline.org]

    Bonna also suggested that homocysteine could be a marker, but not a cause, of vascular disease. [thrombosisjournal.biomedcentral.com]

    Factor V Leiden is not a risk factor for arterial vascular disease in the elderly: results from the Cardiovascular Health Study. Thromb Haemost. 1998; 79 912-915 68 Doggen C J, Cats V M, Bertina R M, Rosendaal F R. [dx.doi.org]

Liver, Gall & Pancreas

  • Protein S Deficiency

    C deficiency disease Protein C deficiency disorder Protein C resistance Protein S deficiency disease Protein S deficiency disorder Prothrombin G20210A mutation Prothrombin gene mutation Resistance to activated protein C due to Factor V Leiden Thrombophilia [icd9data.com]

    […] disease, protein C deficiency disorder, protein C resistance, protein S deficiency disease, protein S deficiency disorder, prothrombin G20210A mutation, prothrombin gene mutation, resistance to activated protein C due to Factor V Leiden, thrombophilia [healthresearchfunding.org]

    New quantitative total protein S-assay system for diagnosing of protein S type II deficiency: clinical application of the screening system for protein S type II deficiency. Blood Coagul Fibrinolysis 2012;23:56–63. 57. [synapse.koreamed.org]

    Available online at http://ghr.nlm.nih.gov/condition/protein-c-deficiency. Accessed October 2014. (Reviewed 2009 October). Protein S deficiency. Genetics Home Reference.Available online at http://ghr.nlm.nih.gov/condition/protein-s-deficiency. [labtestsonline.it]

Workup

Many doctors do test for Factor V Leiden as a part of the recurrent miscarriage workup of tests and recommend treatment for those who test positive. Thanks for your feedback! Article Sources Coulam, C.B., R.S. Jeyendran, L.A. Fishel, and R. [verywell.com]

American Journal of Neuroradiology August 2003, 24 (7) 1369-1371; Abstract Summary: A dural arteriovenous fistula was discovered incidentally in a 58-year-old man with activated protein C resistance who underwent routine outpatient cerebral angiography for workup [ajnr.org]

Treatment

Currently, researchers are still studying this treatment to verify that it actually helps. Many fertility clinics recommend that patients take baby aspirin during treatment just in case they have clotting problems. [verywell.com]

Finally, the efficacy of anticoagulant treatment is suggested but the long period often observed between treatment interruption and a recurrence does not militate in favour of long term treatment. © 1996 S. [karger.com]

The usual treatment options for abnormal clot formation are the use of anticoagulants such as heparin, warfarin, rivaroxaban, etc. [dovemed.com]

Evidence suggests that heterozygosity for the Leiden variant has at most a modest effect on risk for recurrent thrombosis after initial treatment of a first VTE. [ncbi.nlm.nih.gov]

Routine test during pregnancy Routine test before or during oral contraceptive use or hormone replacement therapy in patients without a family history of thrombosis As newborn initial test As initial test in patients with arterial thrombotic events Treatment [pathologyoutlines.com]

Prognosis

Please find comprehensive information on Factor V Leiden Thrombophilia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

PMID: 25496123 Prognosis Alshaikh NA, Rosing J, Thomassen MCLGD, Castoldi E, Simioni P, Hackeng TM J Thromb Haemost 2017 May;15(5):950-960. Epub 2017 Mar 20 doi: 10.1111/jth.13657. [ncbi.nlm.nih.gov]

The clinician however is much more interested in the impact of APC resistance on prognosis of stroke patients as this might affect further diagnostic procedures or even therapy. [journals.plos.org]

Etiology

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

[…] degradation by activated protein C Approximately 64% of people with venous thrombosis have activated protein C deficiency Does not appear to reduce life expectancy Acquired forms of activated protein C deficiency can lead to elevated factor VIII levels Etiology [pathologyoutlines.com]

ROSENDAAL, Etiology of venous thrombosis: the need for small original studies, Journal of Thrombosis and Haemostasis, 10, 10, (2189-2190), (2012). Edward M. [doi.org]

2011/54/4/752/91507 Recurrent pregnancy loss is a heterogeneous condition with several etiological factors. Nearly 70% of spontaneous abortions in the first 12 weeks are due to chromosomal anomalies. [ijpmonline.org]

Epidemiology

الصفحة 86 - Epidemiological study on factor VII, factor VIII and fibrinogen in an industrial population. I. Baseline data on the relation to age, gender, body-weight, smoking, alcohol, pill using, and menopause. ‏ [books.google.com]

Genatlas disease for F5 Gene parahemophilia Relevant External Links for F5 Genetic Association Database (GAD) F5 Human Genome Epidemiology (HuGE) Navigator F5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: F5 Risk factors for failure [genecards.org]

EPIDEMIOLOGY The prevalence of heterozygous in Italy is 2-5%, in Europe 1-4% with high geographical differences (14% in Greece, and in absence in populations of non-Caucasian.) .The homozygous patients are about 1:6000-7000 in Italy. [flipper.diff.org]

Epidemiology FVL is present in around 5% of Caucasians. [ 4 ]. It is rare or absent in people of black African, Far East Asian, native Australian and native American origin. [patient.info]

Lijfering WM, Rosendaal FR and Cannegieter SC (2010) Risk factors for venous thrombosis ‐ current understanding from an epidemiological point of view. British Journal of Haematology 149 (6): 824–833. [els.net]

Pathophysiology

For Suggests clinical disorders or settings where the test may be helpful Evaluation of patients with incident or recurrent venous thromboembolism (VTE) Evaluation of individuals with a family history of VTE Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Yunyoung Chang, Ganary Dabiri, Elizabeth Damstetter, Emily Baiyee Ebot, Jennifer Gloeckner Powers and Tania Phillips, Coagulation disorders and their cutaneous presentations: Pathophysiology, Journal of the American Academy of Dermatology, 10.1016/j.jaad [doi.org]

The venous pathophysiologic pattern is shown in [Table 3], which shows an average of three significant incompetent perforators with all patients showing superficial venous reflux in the great saphenous vein. [ejs.eg.net]

[…] considerably lower than a deficiency of protein C, protein S, or antithrombin III. [ 2 ] NB : FVL mutation should be distinguished from factor V deficiency, also known as Owren's disease (or parahaemophilia), which is a rare, inherited coagulopathy. [ 3 ] Pathophysiology [patient.info]

Prevention

Future episodes of abnormal clot formation can be prevented after the first thrombotic episode is diagnosed (that it is due to FVL mutation). Preventative options may include avoidance of oral contraceptive pills, limiting immobilization, etc. [dovemed.com]

For most passengers, common sense measures including in–flight exercise and avoidance of dehydration are sufficient to prevent DVT. [viapath.co.uk]

In addition, LMWH prophylaxis reduces the risk of pregnancy-related VTE. [ 10 ] The use of LMWH during pregnancy has been shown to be safe and effective in preventing VTE in susceptible patients with FVL. [ 11 ] Heterozygotes are not routinely anticoagulated [patient.info]

Zi-Rong Li, Li-Ming Cheng, Kun-Zheng Wang, Nan-Ping Yang, Shu-Hua Yang, Wei He, Yi-Sheng Wang, Zhong-Ming Wang, Pei Yang, Xian-Zhe Liu, Yue-Zhong Luo, Wei Sun, Hai-Tao Wang, Li-Zhen Zheng, Xin-Luan Wang and Ling Qin, Herbal Fufang Xian Ling Gu Bao prevents [doi.org]

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