Materiały źródłowe

• #1 Testing for thrombophilia: an evidence‐based approach

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2660493/

  Thrombophilia is a disorder of haemostasis in which there is a tendency for the occurrence of thrombosis. This tendency can be inherited or acquired. This review outlines common acquired and inherited thrombophilic conditions and discusses indications for testing. It is concluded that testing for acquired thrombophilic conditions should be considered in all cases of venous thrombosis, whereas testing for inherited thrombophilic conditions is unlikely to be helpful. If testing for inherited thrombophilia is to be carried out, the benefits, pitfalls and unwanted consequences of such testing should be taken into account. […] The purpose of this review is to outline a practical approach to testing for thrombophilia. In relation to the utility of testing for thrombophilia, we will concentrate on inherited thrombophilic defects, as there is often confusion about the use of testing for these.

• #2 Laboratory Diagnostics in Thrombophilia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30703819/

  A thrombophilic disorder is a hereditary or acquired condition that increases the risk of thrombosis. The most common hereditary thrombophilias that predispose to venous thrombosis in the Caucasian population are the heterozygous forms of the factor V Leiden and prothrombin G20210A mutation that are generally detected by direct DNA genotyping. […] Immunologic antigen assays and chromogenic or clot-based activity assays are used to identify deficiencies in the natural coagulation inhibitors antithrombin, protein C and protein S. Because pre-analytical errors and acquired causes of low antithrombin, protein C or protein S levels are considerably more common than hereditary deficiencies, all potential conditions that may lower activity levels of the natural coagulation inhibitors (e.g. concomitant liver disease, pregnancy, anticoagulant therapy) must be considered and excluded before the diagnosis of an inhibitor deficiency can be made. To avoid misclassification, the diagnosis should not be made based on a single abnormal test result. Thus, repetitive testing when the patient is not on anticoagulant therapy is mandatory to confirm the diagnosis. Screening for antiphospholipid syndrome (APS) comprises testing for lupus anticoagulants (LAs) and the presence of IgG or IgM antibodies directed against phospholipids and phospholipid-binding proteins such as -2-glycoprotein-I. A combination of clot-based assays has been recommended to demonstrate LA activity, whereas solid-phase immunoassays allow the detection of anti-cardiolipin and anti–2-glycoprotein-I antibodies. The diagnosis of APS requires the persistence of antiphospholipid antibodies for at least 12 weeks together with thrombotic and/or obstetric features of APS.

• #3 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 can be classified as hereditary or acquired, with clinical manifestations varying widely. […] Thrombophilia during pregnancy and the postpartum period is exacerbated by the pro-coagulant characteristics of these conditions, affecting approximately 15% of the general population. […] Effective monitoring and management are vital to reducing risks, requiring an interdisciplinary approach involving gynecologists, midwives, anesthesiologists, and hematologists throughout pregnancy, delivery, and postpartum. […] Clinical diagnosis is based on personal and family history, physical examination, and laboratory and imaging tests. […] Genetic testing is helpful for confirming the diagnosis, differential diagnosis, recurrence risk assessment, and identifying asymptomatic cases in families with known mutations, such as mutations in the Factor V Leiden and prothrombin genes.

• #4 Thrombophilia – Hematology.org

  https://www.hematology.org/education/clinicians/guidelines-and-quality-care/clinical-practice-guidelines/venous-thromboembolism-guidelines/thrombophilia

  Thrombophilias include a variety of genetic mutations that are associated with increased risk of VTE. Thrombophilia, either acquired or hereditary, can be identified in many patients presenting with venous thromboembolism (VTE). The currently most commonly tested hereditary thrombophilias include deficiencies of antithrombin, protein C, or protein S, and the gainoffunction mutations Factor V Leiden (FVL) and prothrombin G20210A (PGM). […] Thrombophilia testing can be performed in patients with VTE, particularly if they are young, have recurrent episodes, have thrombosis at unusual sites, or have a positive family history of the disease. The purpose of these guidelines is to provide evidence-based recommendations about whether thrombophilia testing and tailoring management based on the test result would improve patientimportant outcomes.

• #5 Testing for thrombophilia: an evidence‐based approach

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2660493/

  An example of the frequent inconsistencies in testing for heritable thrombophilia stems from the observations that the ABO blood group is associated with venous thrombosis risk. […] The same thrombophilic disorder can have very different clinical penetrance within families, such that test results give little guidance in determining a management plan for an individual patient. […] The next part of this review will consider the rationale for thrombophilia testing in a range of commonly encountered clinical situations, with particular emphasis on clinical decision making. […] Patients who have had a venous thrombosis have a high prevalence of inherited thrombophilic disorders; thus thrombophilia testing can be rewarding in this group if a partial explanation is all that is desired. […] If the risk of recurrence is deemed high, then consideration should be given to longterm anticoagulation, particularly if the risks associated with the recurrence of thrombosis are greater than the risks, especially of fatal or serious haemorrhage, posed by longterm anticoagulation.

• #6 Thrombophilia: Causes, Symptoms, and Treatment

  https://patient.info/allergies-blood-immune/blood-clotting-tests/thrombophilia

  It is likely that there are some kinds of thrombophilia which we cannot yet identify or test for. This is because there are some people or families who have more blood clots than would normally be expected, yet test negative on the thrombophilia tests. […] Current guidelines suggest that thrombophilia testing should be considered in the following situations: If you have a venous thrombosis or pulmonary embolus under the age of 40. […] Thrombophilia testing should be considered if you have repeated episodes of venous thrombosis or pulmonary embolus or inflamed veins (thrombophlebitis). […] If you have a venous thrombosis in an unusual site – for example, the tummy (abdomen) or the brain – in some circumstances, as these can be caused by other conditions. […] If you develop skin necrosis, in which patches of skin are lost due to clots in or under the skin, due to medicines such as warfarin.

• #7 Thrombophilias in Pregnancy Workup: Approach Considerations

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

  ACOG recommends screening a patient for thrombophilia only if test results are likely to alter management. Screening should be performed when the presence of a thrombophilia may alter the intensity or duration of anticoagulation therapy. Screening is unnecessary when treatment is indicated for other reasons. […] ACOG recommends that screening for thrombophilia may be considered (1) in patients with a personal history of VTE that occurred in the setting of a transient nonrecurrent risk factor (eg, fractures, surgery, prolonged immobility) that was not estrogen- or pregnancy-related and (2) in patients with a first-degree relative with a prior VTE that occurred before age 50 years or with a prior diagnosis of high-risk thrombophilia. […] In the absence of thrombophilia, pregnant patients with prior VTE not associated with estrogen and/or pregnancy may undergo surveillance and postpartum anticoagulation therapy.

• #8 Hereditary and Acquired Hypercoagulability Workup: Laboratory Studies

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

  The decision to initiate a laboratory workup for thrombophilia is complex. A workup for thrombophilia is usually indicated only in patients with one or more of the following risk factors: […] Of patients with idiopathic venous thrombosis, which is defined as venous thromboembolism without any obvious risk factor, about 50% have an underlying thrombophilia. Therefore, some authors have recommended performing a thrombophilia workup in patients with idiopathic venous thrombosis. […] American Society of Hematology guidelines on thrombophilia testing, published in 2023, conditionally recommend thrombophilia testing in the following scenarios: […] The decision to order a thrombophilia workup can be difficult, because the identification of an underlying thrombophilia might not affect therapeutic strategy.

• #9 Genetic testing and thrombophilia – Alex Rowan Foundation

  https://www.alexrowanfoundation.org/genetic-testing-and-thrombophilia/

  Genetic testing for thrombophilia holds the promise of providing valuable information to inform decision-making in women’s health, particularly as it relates to contraception, pregnancy, and hormone therapy for menopause. […] Genetic testing for thrombophilia can identify pregnant individuals at higher risk, enabling healthcare providers to implement preventive measures and closely monitor their condition throughout pregnancy. […] In the context of hormone therapy for menopause symptoms, genetic testing can help identify individuals with a genetic predisposition to thrombophilia who may be at higher risk of developing blood clots while undergoing hormone therapy.

• #10 Testing for thrombophilia: an evidence‐based approach

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2660493/

  In fact, there is convincing evidence that symptomatic people with positive thrombophilia tests do not have a higher rate of recurrence than those who test negative. […] More doubt exists over the importance of combined genetic thrombophilic defects and deficiencies of the natural anticoagulants. […] Screening asymptomatic people for heritable thrombophilia gives us the option of taking preventive measures in those with positive tests. […] Consensus exists that screening of the general population to assess venous thrombosis risk is not cost effective. […] Testing for heritable thrombophilia may occasionally be of value in the abovementioned situationthat is, before prescription of the OCP in an asymptomatic woman who has a firstdegree relative with a history of VTE. […] In conclusion, population screening before OCP use to withhold oral contraception in women who test positive is not recommended. Testing may be useful in women with a family history of thrombosis, provided a family study is possible.

• #11

  https://bpac.org.nz/BT/2011/March/thrombophilia.aspx

  Testing for thrombophilia is rarely indicated in general practice and should only be performed when the results will alter management. […] Thrombophilia testing should only be performed in specific situations when the results will alter management. […] Thrombophilia testing is therefore only recommended in specific situations for selected patients where the results will influence management. […] Recent guidelines indicate that in most cases thrombophilia testing will not influence management or determine individual risk. […] Thrombophilia testing is not recommended in the acute phase of a thrombotic event, or in patients on anticoagulant treatment. […] There is a lack of evidence for indiscriminate screening, and instead it is recommended that careful and selective testing should be done only if the results would affect the patients medical management or provide useful information for the health care of the family.

• #12

  https://bpac.org.nz/BT/2011/March/thrombophilia.aspx

  It is recommended that all requests for thrombophilia tests are first discussed with a haematologist. […] The choice of tests will depend on clinical information. […] Although there has been increased interest in thrombophilia testing over the last few years, the role of testing for determining thrombotic risk is likely to have been overstated. […] Negative results in an individual with a strong personal or family history of VTE does not necessarily mean that they are at low risk of VTE. […] Testing may also lead to unnecessary anxiety and psychological distress, given that some inherited thrombophilic traits are very common but are of limited clinical significance.

• #13 The who, when, and why of thrombophilia testing – CAP TODAY

  https://www.captodayonline.com/the-who-when-and-why-of-thrombophilia-testing/

  Thrombophilia testing has been shown to be performed far more often than indicated in thromboembolic events, at significant cost to the patient and hospital. […] None of the recommendations on thrombophilia testing are absolutely clear-cut, and in some cases mitigating factors make testing necessary. […] After a patient presents with a thrombophilia, we want to figure out if they should be on indefinite anticoagulation, she said, and the risk of recurrent VTE can inform that decision. […] The two intended answers are the 55-year-old with a VTE after being hospitalized for pneumonia for a week and the neonate presenting with purpura fulminans, she said. […] Assay interference, patient labeling with its insurance and mental health ramifications, and the risks of anticoagulation are reasons not to test everyone.

• #14

  https://link.springer.com/article/10.1007/s11239-015-1316-1

  Thrombophilias are hereditary and/or acquired conditions that predispose patients to thrombosis. Testing for thrombophilia is commonly performed in patients with venous thrombosis and their relatives; however such testing usually does not provide information that impacts management and may result in harm. […] We recommend that thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner, and only in circumstances where the information obtained will influence a decision important to the patient, and outweigh the potential risks of testing. Testing should not be performed during acute thrombosis or during the initial (3-month) period of anticoagulation. […] Testing for thrombophilias should only be performed when results will be used to improve or modify management. Testing has been suggested to assist with secondary prevention (determining the duration of anticoagulation following a thrombotic event); and for hereditary disorders, to aid in primary prevention in relatives of affected patients.

• #15 Thrombophilia Screen – South Tees Hospitals NHS Foundation Trust

  https://www.southtees.nhs.uk/services/pathology/tests/thrombophilia-screen/

  A Thrombophilia Screen comprises: […] Thrombophilia is a broad medical term which describes a multifactorial condition where the blood has an increased tendency to clot and is considered hypercoagulable. This condition can render individuals at greater risk of pathological thrombosis and may be either inherited, acquired or a combination of the two. […] The Thrombophilia Screen is a combination of tests designed to provide evidence of inherited deficiencies of naturally occurring anticoagulants; Antithrombin, Protein C, and Protein S. The association of prothrombin gene and Factor V Leiden mutations with an increased risk for venous thrombosis has been well documented, and along with lupus anticoagulant and antibodies associated with anti-phospholipid syndrome are included in the Thrombophilia Screen.

• #16 Hypercoagulable state – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/889

  1st investigations to order include FBC, peripheral blood smear, activated partial thromboplastin time (aPTT), fibrinogen, prothrombin time (PT), D-dimer, serum albumin, serum creatinine, serum cholesterol, and serum triglycerides. […] Investigations to consider include heritable thrombophilia test, polymerase chain reaction (PCR) for factor V Leiden, antiphospholipid antibodies, homocysteine level, factor VIII level, myeloproliferative neoplasm panel, flow cytometry for paroxysmal nocturnal haemoglobinuria, heparin-induced thrombocytopenia (HIT) test, chest x-ray, abdominal CT, abdominal ultrasound, tumour markers, and 24-hour urine collection for protein, or spot urine for protein/creatinine ratio.

• #17 Hereditary and Acquired Hypercoagulability Workup: Laboratory Studies

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

  Inherited thrombophilia is often a consideration in children who develop thrombotic disease. […] Some benefits may exist with testing patients for thrombophilia and antiphospholipid syndrome (lupus anticoagulants). […] Patients who have an identifiable thrombophilic risk factor should be advised to have blood relatives tested, as this information would be important for their physicians, in deciding whether to recommend oral contraception or hormone replacement therapy. […] A full thrombophilia panel consists of simultaneous tests for the following: […] Numerous tests are available for each of the hypercoagulable disorders or thrombophilia. […] Confirmation of the diagnosis is based on the following study results: […] Confirmatory test results should be positive on two occasions 12 weeks apart.

• #18 Hereditary and Acquired Hypercoagulability Workup: Laboratory Studies

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

  For patients with suspected factor V Leiden, coagulation testing with an activated protein C (APC) resistance assay should be done first. […] Patients with an abnormally low APC resistance assay result should undergo genetic testing for factor V Leiden. […] Available studies for antithrombin deficiency include both functional and antigenic assays. […] Prothrombin (factor II) deficiency can be acquired or hereditary. […] Although both functional (amidolytic) and antigen assays for protein C are available, functional (amidolytic) studies should always be performed to diagnose protein C deficiency. […] For protein S deficiency, free antigen, total antigen, and functional assays are available. […] Tests for hypercoagulability are affected by a number of conditions. Therefore, precautions are important when ordering laboratory studies to rule out an underlying thrombophilia. […] The tests should be performed in laboratories that specialize in testing for thrombophilia.

• #19 Thrombophilia: Inherited, Symptoms, Screen Test, Treatment, Cause

  https://www.healthline.com/health/thrombophilia

  Thrombophilia is diagnosed through blood testing. These tests can identify the condition, but they cant always determine the cause. […] If you or someone in your family has thrombophilia, genetic testing may be able to identify other family members with the same condition. When considering genetic testing, you should ask your doctor if the results would have any impact on treatment decisions. […] Genetic testing for thrombophilia should only be done with the guidance of a qualified genetic counselor.

• #20 Thrombophilia | Bruker

  https://www.bruker.com/en/products-and-solutions/molecular-diagnostics/assays/human-genetic/thrombophilia.html

  Our test systems for the diagnostics of thrombophilia detect clinical relevant genetic risk factors – fast and reliable. […] The combination of genetic defects leads to an increased risk for thrombosis, thus a combined analysis of thrombophilia-associated parameters is reasonable. […] The identification of these parameters in combination with further thrombophilia-associated mutations as MTHFR C677T, MTHFR A1298C and PAI -675 4G/5G permits a reliable estimation of the individual risk for thrombosis. […] Our ThromboType plus VER 3.0 test system allows you to simultaneously and definitively detect several clinically relevant thrombosis-related mutations and thus an effective diagnosis of thrombophilia. […] The combined determination of these four thrombosis-related mutations allows for effective diagnosis of thrombophilia. […] The combined determination of the two most frequent thrombosis-related mutations allow for effective diagnosis of thrombophilia.

• #21 Hereditary Thrombophilia – Hypercoagulability | Choose the Right Test

  https://arupconsult.com/content/hypercoagulable-states

  Genetic testing for the c.*97GA variant is the only reliable means to diagnose this condition; factor II activity is not an appropriate test for diagnosis. […] Genetic testing is not widely available or required for diagnosis of protein C deficiency in most cases. […] Genetic testing is not widely available or required for diagnosis of protein S deficiency in most cases. […] Genetic testing is not widely available or required for diagnosis of antithrombin deficiency in most cases.

• #22 Thrombophilia Profile, Plasma and Whole Blood – Logan Health Medical Center Laboratory Test Catalog

  https://logan.testcatalog.org/show/AATHR

  Test Code AATHR Thrombophilia Profile, Plasma and Whole Blood […] Evaluating patients with thrombosis or hypercoagulability states […] Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis […] Detecting a deficiency of antithrombin, protein C, or protein S […] Detecting activated protein C resistance (and the factor V Leiden [p.Arg534Gln, historically known as R506Q] variant if indicated) […] Detecting the prothrombin F2 c.*97G>A variant (historically known as G20210A) […] Thrombophilia is defined as an acquired or familial disorder associated with thrombosis. The clinical presentation of an underlying thrombophilia predominantly includes venous thromboembolism (deep vein thrombosis, pulmonary embolism, superficial vein thrombosis). Other manifestations that have been linked to thrombophilia include recurrent miscarriage and complications of pregnancy (eg, severe preeclampsia, abruptio placentae, intrauterine growth restriction, stillbirth). Thrombophilia does not predict arterial thrombosis.

• #23 Diagnostics of the risk factors for thrombotic disease – thrombophilia – Medicover – private health care

  https://www.medicover.pl/en/medicover-hospital/diagnostics-of-the-risk-factors-for-thrombotic-disease/

  Some haematological diseases – hypercoagulation (thrombophilia) are diagnosed by offering our patients specially created diagnostic packages, such as diagnostics of risk factors for thrombophilia. […] Diagnosis of thrombophilia is very important because proper and early prevention often helps prevent life-threatening recurrences. […] Indications for thrombophilia diagnostics include thrombosis in patients under 50 years of age, with no classic risk factors for venous thromboembolism, thrombosis in atypical location, thrombosis in patients with similar medical conditions in the family, recurrent thrombosis, multiple miscarriages, and pregnancy planned by women with family history of thrombophilia. […] The relative indications for thrombophilia diagnostics include thrombosis during pregnancy, thrombosis while taking oral contraception or hormone replacement therapy, and screening of asymptomatic family members with diagnosed thrombophilia. […] Tests should be performed at least 3 months after an episode of thrombosis.

• #24 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/

  Among the laboratory tests for thrombophilia, the following can be highlighted: assessment of protein C, protein S, and antithrombin levels; evaluation of antiphospholipid syndrome (APS) markers; and measurement of D-dimer levels to investigate active thrombosis. […] Thrombophilia evaluation is not solely for determining anticoagulation duration but also for estimating individual recurrence risk, the need for thromboprophylaxis, or decisions to extend anticoagulant therapy. […] SYNLAB provides the THROMBO InCode Genetic Evaluation of Reproductive Health, assessing the risk of venous thromboembolism during pregnancy and postpartum. […] Treatment depends on the type of thrombophilia (hereditary or acquired), presence of risk factors, history of thrombotic events, and specific conditions like pregnancy.

• #25 Thrombophilia Profile Test | Best Pathology Lab in Mumbai | Phadke Labs

  https://phadkelabs.com/thrombophilia-profile

  This tests consists of anti thrombin iii activity, serum homocysteine level, ptt mixing studies, lupus anticoagulant, protein c antigen, free protein s, apc-activated protein c resistance, phospholipid antibody igg igm, protein c activity, protein s activity, antithrombin iii antigen, anti-cardiolipin antibody. […] Thrombophilia Profile Includes 12 Components Test Code : THROP Rs. 19,370 Sample: edta, citrate, plain Turnaround Time: rep after 10 days.

• #26 Hereditary Thrombophilia – Hypercoagulability | Choose the Right Test

  https://arupconsult.com/content/hypercoagulable-states

  Many factors can contribute to inaccurate or discrepant test results, including medications, transient conditions (eg, pregnancy), specific test components, and biologic variability. […] Functional testing is not recommended during acute thrombotic episodes because results may be inaccurate (due to consumption, acute phase responses, etc.) and will not affect acute care. […] Anticoagulant medications are among the most common sources of coagulation testing interference. Avoid testing for at least 2-3 days after direct oral anticoagulant use, and for a minimum of 2-4 weeks after vitamin K antagonist use (eg, warfarin). […] Genetic testing should be used to confirm FVL following an abnormal APC result and to differentiate between homozygotes and heterozygotes for the purposes of risk assessment.

• #27 Testing for thrombophilia: an evidence‐based approach

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2660493/

  In many cases of venous thromboembolism (VTE), there is an obvious precipitating factor, such as the postoperative state. In a minority, VTE is apparently unprovoked or spontaneous. Acquired thrombophilic conditions should be considered in all cases of apparently spontaneous VTE. Identifying such a condition may have important management implications for the patient, as anticoagulant treatment may minimise the risk of thrombosis recurrence. […] The two most common myeloproliferative disorders, essential thrombocythaemia and polycythaemia vera, are both associated with thrombosis in the venous, arterial and microvascular compartments. […] The antiphospholipid syndrome may be associated with an underlying connective tissue disorder, or may occur in isolation. Clinical clues to its presence include a history of recurrent pregnancy failure, venous, arterial or microvascular thrombosis, thrombocytopenia and livedo reticularis.

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

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

  Several clinical forms of hereditary thrombophilia are associated with pregnancy complications such as abortions, preeclampsia, lethal newborns, endometrial growth retardation, and HELLP syndrome. […] The major of these genes are: […] In the question which women should be tested for thrombophilia, the answer is that all pregnant women with a history of thrombus should be controlled according to the American College of Obstetricians and Gynecologists. […] Laboratory findings include increased levels of factor VIII and fibrinogen, decreased levels of protein S, resistance to activated protein C, decreased fibrinolysis and Leiden factor V mutation, and G20210A antithrombin mutation. […] Monitoring of pregnant women with hereditary thrombophilia involves the implementation of a complete laboratory investigation.

• #29 Testing for thrombophilia: clinical update | British Journal of General Practice

  https://bjgp.org/content/64/619/e120

  Thrombophilia describes inherited and acquired prothrombotic states which predispose to venous, but not arterial thromboembolism. […] The most common acquired thrombophilia state is antiphospholipid antibodies (aPL), which requires positive tests for one or more of three antibodies on two occasions more than 12 weeks apart: lupus anticoagulant, anticardiolipin antibodies, and anti 2-glycoprotein I antibodies. […] As the recent NICE guidelines emphasise, testing should only performed when it is likely to change the patients management, such as in the risk-benefit analysis of whether to discontinue anticoagulation after a recent VTE. […] Testing for thrombophilia will be uninformative if the patient is taking anticoagulation or has had a recent VTE for both will interfere with the assays. […] The increasing availability of thrombophilia tests, particularly for heritable disease, has lead to much inappropriate use, but they rarely inform management.

• #30 The who, when, and why of thrombophilia testing – CAP TODAY

  https://www.captodayonline.com/the-who-when-and-why-of-thrombophilia-testing/

  The guideline panel issued a strong recommendation against testing the general population before beginning combined oral contraceptives (COC). […] The recommendation to test patients with nonsurgical major transient risk factors as in the example of the 55-year-old hospitalized with pneumonia for a week departs from ASHs prior guidance, Dr. Rollins-Raval said, which advised against testing in the setting of major transient risk factors, including prolonged immobility. […] Thrombophilia testing isn’t recommended in VTE provoked by surgery because the risk of recurrence is low. […] For interference reasons, it also should be avoided in patients in the acute stage of thrombosis, in the initial phase of VTE treatment, and in patients who are pregnant or on anticoagulation. […] But in many cases, no other inpatient testing is recommended because of possible interference, particularly on the functional assays.

• #31 The who, when, and why of thrombophilia testing – CAP TODAY

  https://www.captodayonline.com/the-who-when-and-why-of-thrombophilia-testing/

  All the functional assays for thrombophilia could potentially be affected by anticoagulation or other factors, Dr. Rollins-Raval said. […] Thrombophilia testing, then, should be done after the patient has completed the initial treatment course for VTE and is no longer on anticoagulation. […] Thrombophilia testing can be ordered on an inpatient if the patient is suspected of having antiphospholipid syndrome, he said, and particularly catastrophic antiphospholipid syndrome, although I say that with some reservation because if the patient is not suspected of having catastrophic antiphospholipid syndrome, you have to be aware that the acute phase reaction may cause a transient positive lupus anticoagulant and transient positive anticardiolipin antibodies. […] In all other cases, inpatient testing should be canceled or interpreted with caution.

• #32 Shared Decision-Making Guide for Thrombophilia Testing – Blood Clots

  https://www.stoptheclot.org/shared-decision-making-guide/

  Thrombophilia testing is not generally recommended for routine screening or in situations where the results would not change the management plan. […] American Society of Hematology (ASH) generally recommends thrombophilia testing in specific situations where it may impact clinical management or decision-making. […] Thrombophilia testing should not be performed at the time of a blood clot diagnosis or while a patient is currently receiving anticoagulation, as results may be inaccurate and difficult to interpret. […] Engaging in a shared decision-making process for thrombophilia testing involves clear communication, understanding patient concerns, and discussing the benefits and limitations of testing. […] Before thrombophilia testing is ordered, the goals of the testing and the potential psychological effects should be discussed and understood.

• #33 Thrombophilia Profile, Plasma and Whole Blood – Logan Health Medical Center Laboratory Test Catalog

  https://logan.testcatalog.org/show/AATHR

  To obtain the most useful information, this testing is best performed in medically stable patients who are not receiving an oral vitamin K inhibitor (eg, warfarin, Coumadin), heparin, low-molecular-weight heparin, hirudin (Refludan), argatroban, fibrinolytic agents (eg, streptokinase, tissue plasminogen activator), or platelet GPIIbIIIa (alpha IIb beta3) inhibitors (abciximab [ReoPro], tirofiban [Aggrastat]). However, useful information can be obtained in patients receiving anticoagulation therapy.

• #34 Hereditary Thrombophilia – Hypercoagulability | Choose the Right Test

  https://arupconsult.com/content/hypercoagulable-states

  Additionally, nongenetic testing should be avoided in the context of acute thrombotic events, pregnancy, and current or recent anticoagulant use. […] Yes, frequent interferences occur in functional testing due to current or recent anticoagulant use. […] Clinical guidelines recommend appropriate confirmatory or repeat testing to verify any abnormal functional or antigenic test result before making a definitive thrombophilia diagnosis. […] Although routine testing for hereditary thrombophilia is generally discouraged, testing may be appropriate when results could impact clinical management and decision-making in patients with one or more of the following: Unprovoked thrombosis at a young age (50 years), Recurrent thrombosis, Thromboses at unusual sites, First-degree relatives with a strong history of early VTE.

• #35

  https://ecohumanism.co.uk/joe/ecohumanism/article/view/5926

  Background: Venous thromboembolic disease (VTD) is influenced by various biological, medical, and ecological risk factors, with thrombophilia representing an acquired or hereditary predisposition to venous thromboembolism (VTE). […] The complexity of identifying suitable candidates for thrombophilia testing and interpreting results greatly complicates clinical management. […] This review evaluates traditional inherited thrombophilia, including deficiencies in natural anticoagulants and mutations such as factor V Leiden and prothrombin G20210A. […] It emphasizes the necessity of molecular diagnostics over traditional plasma tests, particularly in patients undergoing direct oral anticoagulant (DOAC) therapy. […] The findings reveal that the presence of DOACs can significantly interfere with laboratory assays for thrombophilia.

• #36 Thrombophilia (Hypercoagulable States) – Bleeding Disorders – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.15.22.

  Thrombophilia is a genetic or acquired tendency to the development of venous (VTE) or arterial thromboembolism. […] There are few indications for routine thrombophilia screening. It might be considered in patients with a strong history of VTE in first-degree relatives, in patients with VTE in atypical locations (eg, abdominal veins), and in selected patients planning pregnancy or combined contraceptive use. […] Investigations recommended in patients suspected of thrombophilia include resistance to activated protein C (mostly indicating the presence of factor V Leiden), the 20210A variant of the prothrombin gene, protein C activity, free protein S concentration, AT activity, the lupus anticoagulant, and IgG anticardiolipin antibodies. […] Investigations for routine thrombophilias should be performed 3 to 6 months after a thromboembolic event, because it will both allow adequate counseling of patients, and because the thrombosis and its treatment may alter the results of functional assays.

• #37 Genetic Thrombophilia | Labcorp

  https://www.labcorp.com/test-menu/resources/genetic-thrombophilia

  Specific genetic defects should be suspected when a thrombotic event has any of the following characteristics:1-3 […] Three general categories of test methodology are useful in the assessment of congenital thrombotic conditions: […] Genetic testing is useful for the diagnosis or confirmation of MTHFR, factor V Leiden, and the prothrombin 20210 mutations. Regardless of clinical status, genetic testing can be definitive because the patient’s DNA remains constant. Antigen and activity levels must be measured to diagnose the other congenital thrombotic conditions. It is important to understand, however, that the results of activity and antigen level tests can be affected by the clinical state of the patient. In many clinical circumstances, such as those listed below, tests for activity or antigen levels may produce misleading results.2,4

• #38 Thrombo Check / Thrombophilia Panel 2 Test – Price, Normal Range | Sprint Diagnostics Hyderabad

  https://www.sprintdiagnostics.in/hyderabad/profile/thrombo-check-thrombophilia-panel-2

  Thrombocheck Panel II / Thrombophilia Panel II is a comprehensive blood test used to determine your risk of developing abnormal blood clots, which could potentially block blood vessels and cause serious conditions such as stroke or deep vein thrombosis (DVT). This panel measures several components that play crucial roles in the blood clotting process. These components include Protein C, Protein S, Antithrombin III (AT III), Factor V Leiden mutation, lupus anticoagulant, homocysteine levels, and antibodies against cardiolipin and Beta 2 glycoprotein. […] This test helps doctors diagnose a thrombophilia, a condition that increases the risk of blood clotting. It helps identify the cause of abnormal blood clots and provides information that is crucial in determining the most appropriate treatment.

• #39 Thrombophilia Profile -1 – Aspira Diagnostics

  https://www.aspiradiagnostics.com/tests-and-packages/coagulation/thrombophilia-profile-1/

  These blood tests measure Protein C and S and others in the blood. These proteins help in clotting of blood, and their deficiency may cause excess clotting, which can cause blockages in blood vessels. These deficiencies can be hereditary or can be acquired. […] Thrombophilia Profile -1 includes tests for Homocysteine, Cardiolipin Antibody ACL-IgM antibody, Cardiolipin Antibody ACL-IgG antibody, Lupus Anticoagulants (LAC), APA-IgG Phospholipid Antibody, Anti Thrombin III Antigen, Anti thrombin activity, Protein S Antigen, Protein S activity, Protein C Antigen, Protein C activity, APCR Activated Protein C Resistance, and APA-IgM Phospholipid Antibody.

• #40 Thrombophilia laboratory findings – wikidoc

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

  Hence, it is strongly recommended that thrombophilia testing is supervised by and results are interpreted by an experienced clinician who is aware of all relevant factors that may influence individual test results in each individual. […] A negative set of investigations does not exclude an inherited prothrombotic tendency and a referral to a thrombosis specialist should be made in the doubtful cases. […] Hence, the timing and sample collection are important to accurately evaluate for the thrombophilic states given the variability of test results under the guidance of a hematologist consultant.

• #41 GNTHR – Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619271

  Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder […] Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic alteration in one or more of 16 genes associated with a variety of hereditary thrombosis disorders […] Determining the disease-causing alterations within one or more of these 16 genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of a thrombosis disorder […] Identifying the causative alteration for genetic counseling purposes […] Prognosis and risk assessment based on the genotype-phenotype correlations […] Carrier testing for close family members of an individual with a hereditary thrombosis disorder diagnosis

• #42 GNTHR – Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619271

  This panel evaluates 16 genes associated with a variety of hereditary thrombosis disorders, including thrombotic thrombocytopenic purpura; thrombophilia due to thrombin defect; thrombophilia due to activated protein C resistance; fibrinogen deficiencies (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia); histidine-rich glycoprotein deficiency; paroxysmal nocturnal hemoglobinuria (somatic); familial hyperfibrinolysis; plasminogen deficiency and dysplasminogenemia; protein C deficiency; purpura fulminans; protein S deficiency; antithrombin deficiency; heparin cofactor 2 deficiency; and thrombomodulin deficiency. […] Indications for testing include, but are not limited to: -Individuals with venous thromboembolism (VTE) under the age of 50, recurrent and/or spontaneous VTE, or VTE at an unusual site (eg, hepatic, mesenteric, portal, cerebral veins) […] -Individuals with a strong family history of thrombosis or pulmonary embolism […] -Individuals with warfarin-induced skin necrosis or neonatal purpura fulminans […] -Individuals whose personal or family history indicates coinheritance of multiple hereditary thrombosis.

• #43 GNTHR – Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619271

  However, no screening test exists for detecting defects in a subset of genes on this panel, such as PROCR and THBD. If the thrombotic tendency is a concern, a set of clinical guidelines from the British Society for Haematology on testing for heritable thrombophilia is freely available. […] Thrombophilia is defined as an acquired or familial disorder associated with thrombosis. The clinical presentation of an underlying thrombophilia predominantly includes venous thromboembolism (deep vein thrombosis, pulmonary embolism, superficial vein thrombosis). Other manifestations linked to thrombophilia include recurrent miscarriage and complications of pregnancy (eg, severe preeclampsia, abruptio placentae, intrauterine growth restriction, and stillbirth). […] Determination of a hereditary thrombosis disorder contributing to thrombotic events in an individual or family can be useful for prognosis and risk assessment. Identification of an alteration that is known or suspected to cause disease can also be useful for determining the risk for thrombosis for family members.

• #44 Thrombophilia Panel Test – Genetic Diagnosis Center DR. Cell

  https://www.ankaragenetik.com/en/thrombophilia-panel-test

  Thrombophilia is a broad medical term describing a multifactorial condition in which the blood has an increased tendency to clot and is considered hypercoagulable. […] A thrombophilia panel test is a test that determines whether genes that regulate blood clotting are damaged (mutated). […] Thrombophilia panel blood clotting gene disorder, which is among the pre-pregnancy tests, is very important. For this reason, it is recommended that people start blood thinner treatment against this genetic disorder. The dose should be determined by the attending physician. […] It is important for individuals to have this information in order to prevent blood clots in the brain, lungs and heart at a later age, as well as during pregnancy or gestation. […] Whether thrombophilia (blood clotting) is genetic or not is determined by the thrombophilia panel test. If the test result is homozygous or heterozygous, it means that there is a genetic problem in blood clotting.

• #45 Genetic Test Kit Identifies Hereditary Thrombophilia – molecular-diagnostics – Labmedica.com

  https://www.labmedica.com/molecular-diagnostics/articles/294736885/genetic-test-kit-identifies-hereditary-thrombophilia.html

  A genetic test kit identifies hereditary thrombophilia, a significant risk factor in the development of potentially life-threatening deep vein thrombosis and pulmonary embolism (PE). […] Testing for hereditary thrombophilia is recommended in various circumstances, such as venous embolism occurring before the age of 50, repeatedly, or during pregnancy or the postnatal period, and for members of families with expressed hereditary thrombophilia. […] Hereditary thrombophilia, the propensity to develop thrombosis, is an important factor influencing development of deep vein thrombosis (DVT) and PE. […] The genetic test kit that identifies hereditary thrombophilia was introduced by Astra Biotech GmbH (Luckenwalde, Germany). […] The kit detects three common mutations, which disrupt the blood coagulation mechanism.

• #46 Thrombophilia laboratory findings – wikidoc

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

  Laboratory findings consistent with the diagnosis of inherited thrombophilias vary based on the etiology of the thrombus. […] Depending on the initial assessment and the clinical management decisions to be addressed, laboratory testing for heritable thrombophilia can be considered. […] The most recent guidelines recommend against offering inherited thrombophilia testing to patients presenting with a provoked VTE in any clinical setting. […] Testing should not be considered unless a first degree relative with a history of VTE exists. […] Hence, its been advisable to take hematologists consult and/or a genetic counselor to determine the risks and benefits of testing. […] An interpretation of thrombophilia test results is difficult and fraught with pitfalls which can occasionally lead to underdiagnosis and frequently to overdiagnosis of defects.

• #47 Hereditary Thrombophilia – Hypercoagulability | Choose the Right Test

  https://arupconsult.com/content/hypercoagulable-states

  Although inherited thrombophilia may be included in some thrombotic risk calculators, clinical factors such as personal and family history of VTE are more important in risk stratification and VTE management for most patients. Testing for hereditary thrombophilia may be useful in patients with a personal or family history of unprovoked VTE when test results would affect clinical management. […] In addition to concerns about the excessive cost, emotional impact, and potential for inaccurate results (eg, in functional assays) associated with testing for hereditary thrombophilia, the Anticoagulation Forum suggests that conflating thrombophilia status (positive or negative) with overall thrombotic risk could lead to significant over- or undertreatment. […] Because of these potential effects and a lack of demonstrated benefit in most circumstances, medical associations and experts broadly recommend against testing for hereditary thrombophilia in a range of settings, including the following: Pregnancy complications, Infertility, Arterial thrombosis, VTE with obvious provoking factors, VTE occurring in the context of cancer or major transient risk factors.

• #48 Diagnosis and management of heritable thrombophilias | The BMJ

  https://www.bmj.com/content/349/bmj.g4387

  Heritable thrombophilias increase the risk of venous thromboembolism (VTE) and are present in about 5% of the population, but most carriers never experience a deep vein thrombosis or pulmonary embolism. […] Diagnosis of heritable thrombophilia does not affect acute management and rarely affects the long term management of VTE. […] Testing for heritable thrombophilias should not be offered to people with deep vein thrombosis or pulmonary embolism without agreement of how and why the result would alter management. […] Since a family history of VTE is itself a risk factor for VTE, testing for heritable thrombophilias in asymptomatic people with a family history of deep vein thrombosis or pulmonary embolism is rarely required, and the finding of a negative test result may provide false reassurance.

• #49 Thrombophilia testing: Who to test and when? | Podcast

  https://cor2ed.com/hemostasis-connect/programmes/thrombophilia-testing-part2/

  The message is that testing at the time of an acute clot is not necessary because it doesn’t influence your management and it can lead to false results. […] I think the main message could be do never test in an acute phase unless you have consulted with a coagulation expert in very rare cases. […] So we have reduced the thrombophilia testing by educating our folks about these pitfalls. […] The goal of not testing people who had provoked VTE is important unless you know what you’re going to do with the results. […] I think we still need educational efforts to, not only define what we include in a thrombophilia panel but also when to test and who to test. […] I think the guidelines should be looked at by everyone. You have an outstanding summary table that I think is great, but some of the treatment decisions, I think we could spend another hour discussing. […] The take-home message I think the main take-home message is to think before you test and test for therapeutic management decisions rather than your chance of finding something do not test in the acute setting.

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

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

  The presence of lupus anticoagulant is severe and can cause fetal bradycardia around the 25th week of pregnancy and atrioventricular blockages. […] Diagnosis of the antiphospholipid syndrome needs the existence of at least one clinical and laboratory criteria. […] The mechanism in the abovementioned syndrome is not precisely specified. […] The proposed mechanisms include vascular endothelial dysfunction, cell apoptosis due to reduced nitrogen oxide bioactivity, decrease in antioxidant regulation, changes in platelet activity, elimination of prostacyclin biosynthesis pathway, decrease in antithrombin activity, inhibition of protein C activation, and inhibition of binding to the endothelium of the tissue plasminogen receptor. […] In women with obstetric complications (such as miscarriages, preeclampsia, endometrial deaths, etc.), the investigation for obstetric antiphospholipid syndrome is preferable to occur close to the episode because it is possible for the levels of antiphospholipid antibodies to fall as far as we go away from pregnancy. […] The results of hematologic control should be analyzed by a hematologist.

• #51 Thrombophilia – Wikipedia

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

  For hereditary cases, the patient must have at least two abnormal tests plus family history. […] Recurrent miscarriage is an indication for thrombophilia screening, particularly antiphospholipid antibodies (anti-cardiolipin IgG and IgM, as well as lupus anticoagulant), factor V Leiden and prothrombin mutation, activated protein C resistance and a general assessment of coagulation through an investigation known as thromboelastography.

• #52

  https://link.springer.com/article/10.1007/s11239-020-02090-y

  Clinical thrombophilia is the consequence of multiple gene and/or environment interactions. Thrombophilia screening requires a targeted patient with specific indication, in which a finding would have implications. […] Thrombophilia screening should be a global, comprehensive, personalized evaluation of the patients pro-thrombotic state. Global thrombophilia evaluation is indicated in all patients with thromboembolism, whereas thrombophilia-specific laboratory screening only in selected cases. […] Thrombophilia investigation should not be performed just for defining the duration of anticoagulation, but it helps in estimating the individual recurrence risk for thrombotic disease, the need for thrombotic prophylaxis or for the decision to prolong anticoagulation therapy. […] Genetic causes of thrombophilia are significant risk factors for a first thromboembolic event but they do not influence decisively recurrent thrombotic risk.

• #53 How we study and treat patients with suspected thrombophilia | Medicina Universitaria

  https://www.elsevier.es/en-revista-medicina-universitaria-304-articulo-how-we-study-treat-patients-X1665579614675943

  Since 1999 we have been studying and treating patients with suspected inherited and/or acquired thrombophilia. […] Inherited thrombophilia is a rather common condition which explains several cases of thrombosis. An inherited thrombophilic condition should be suspected in cases of: Thrombosis in individuals of less than 45 years, thrombosis in unusual sites, thrombosis without other triggering conditions, resistance to antithrombotic treatments, recurrent miscarriages and a family history of thrombosis. […] We encourage all patients to have the full laboratory workup done, since the chances of identifying the thrombophilic conditions are above 90%, provided all the workup is done. […] With a full laboratory workup, we are now able to identify inherited and acquired thrombophilic conditions in more than 90% of individuals having a clinical marker of thrombophilia. These studies should ideally be done in persons studied and treated by cardiologists, angiologists, gastroenterologists, neurologists, gynecologists, ophthalmologists and other specialists dealing with either arterial or venous thrombosis, in order to properly identify the conditions and prevent future re-thrombotic episodes.

• #54 Thrombophilia (Hypercoagulable States) – Bleeding Disorders – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.15.22.

  The presence of a thrombophilia may influence the duration of treatment. […] In patients who would otherwise be discontinuing anticoagulants, lifelong secondary antithrombotic prevention with a VKA or DOAC could be considered after the first episode of VTE in patients with AT deficiency, homozygotes for factor V Leiden, or patients with the 20210A variant of the prothrombin gene, as well as patients with coexisting heterozygosity for these conditions, or in patients with antiphospholipid syndrome with an unprovoked VTE event.

• #55 Thrombophilia: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21797-thrombophilia

  It’s important to know that blood thinners don’t dissolve blood clots. They stabilize the blood clots so they don’t move or get bigger, and allow your body’s natural resources to absorb the clot over time. […] If you’re at a high risk of blood clots, your provider may give you: Heparin after surgery if you’re at risk for a venous thromboembolism (VTE). Antithrombin injection before and after surgery if you don’t have enough antithrombin. Compression stockings or an intermittent pneumatic compression device if you’re at risk of a VTE. Alternatives to standard birth control pills, like certain intrauterine devices or pills that only have progestogen. A dose of heparin before a long flight. […] Although your provider can’t cure genetic thrombophilia, they can order medicine like blood thinners for you to take for life. This medicine will help you manage your thrombophilia.

• #56 Thrombophilias in Pregnancy Workup: Approach Considerations

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

  In patients with a low-risk thrombophilia who have a history of VTE, management includes surveillance or prophylactic or intermediate-dose heparin therapy antepartum. Postpartum anticoagulation is recommended. […] In patients with prior VTE and a high-risk thrombophilia, prophylactic or low- or intermediate-dose heparin therapy is recommended antepartum and postpartum. […] There is currently insufficient evidence to suggest that thromboprophylaxis in patients with thrombophilia prevents recurrence of adverse pregnancy events such as recurrent pregnancy loss, IUFD, abruption, or preeclampsia. […] First-generation activated protein C resistance assay for factor V Leiden is unreliable during pregnancy. […] ACOG has recommended screening for factor V Leiden in pregnancy using the second-generation activated protein resistance assay, followed by DNA analysis for the Leiden mutation if the results are abnormal. […] Activated protein C resistance assays are also unreliable during anticoagulation, so genetic testing is used in this setting. […] Diagnosis of antiphospholipid antibody syndrome relies on both clinical and laboratory criteria.

• #57 To test or not to test for inherited thrombophilias | I.M. Matters from ACP

  https://immattersacp.org/archives/2019/06/to-test-or-not-to-test-for-inherited-thrombophilias.htm

  Just because you can test for inherited thrombophilias doesn’t always mean you should, according to Martha P. Mims, MD, PhD. […] At the initial diagnosis of venous thromboembolism, everyone should get anticoagulation unless there is a strong contraindication, said Martha P. Mims, MD, PhD. […] In the acute period of a clot, there’s probably no point in testing for thrombophilias, Dr. Mims said. […] In general, testing for inherited thrombophilias is probably only useful if a DVT is unprovoked, if the patient has a strong family history, and if withdrawal of anticoagulation is being considered. […] Dr. Mims provided a rundown of the recurrence risk for each type of inherited thrombophilia and how that affects her decision to do thrombophilia testing in patients with unprovoked DVT. […] For protein S and protein C deficiency, recurrence risk is not that high unless there’s family history of clots, she said. […] Antithrombin is probably associated with the highest recurrence risk, especially if family history is present, she noted. […] The data really favor only testing for antithrombin, protein S, and protein C, because that’s really where the high risks are in terms of unprovoked DVTs, she said.

• #58 Tests for thrombophilias associated with fertility and pregnancy problems | Genosalut

  https://www.genosalut.com/en/genetic-testing-and-counselling/fertility/thrombophilia-and-pregnancy/

  Tests for the most common types of genetically caused thrombophilia associated with problems in pregnancy. […] Evidence supports an association between certain types of thrombophilia and some specific problems in relation to the infertile couple. […] For diagnosis, various genetic and coagulation tests are usually carried out. […] These tests are especially recommended for pregnant women (or women who wish to become pregnant) who have already had a thrombosis or who have a family history of thrombosis. […] Thrombophilias are not part of the basic infertility work-up. […] The main cases in which we must rule out or confirm the presence of thrombophilias are the following: Two or more miscarriages before the tenth week of pregnancy. […] The detection of a genetic defect associated with thrombophilia may be the cause of fertility problems in women.

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

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

  Thromboembolic disease during pregnancy is a significant cause of maternal morbidity and mortality involving venous or arterial thrombosis and possible clinical manifestations like clinical symptoms of antiphospholipid antibody syndrome and hyperhomocysteinemia. […] For diminishing the prevalence of thromboembolic disease, the early identification of pregnant women with various risk factors for thrombosis without clinical symptoms is of great importance. […] However, the optimal management for asymptomatic pregnant women who have inherited thrombophilia is uncertain and recognized only due to pregnancy complications such as recurrent pregnancy loss and preeclampsia. […] The clinical approach to thromboembolism is the same in pregnant women with or without thrombophilia. […] Based on family history, clinical symptoms should begin with simple reliable inexpensive laboratory tests like prothrombin time and activated thromboplastin time to test the status.

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

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

  Early diagnosis and appropriate use of thromboprophylaxis lead to increasing better maternal and perinatal outcomes. […] In women with an individual or family history of proven thromboembolic disease, examination for thrombophilia should be performed at the beginning of pregnancy. […] Inherited thrombophilia: In this case, patients present earlier the first thromboembolic episode in comparison with general population. […] In addition, many clinical types of hereditary thrombophilia are associated with pregnancy complications such as recurrent miscarriage, preeclampsia, endometrial growth retardation, and HELLP syndrome. […] The term thrombophilia includes inherited or acquired lack of antithrombin, as well as secondary syndromes characterized by either reduced levels of coagulation inhibiting agents or elevated levels of coagulation factors.

• #61 Thrombophilia: Symptoms and Treatment | Doctor

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

  Thrombophilia may be heritable, acquired or mixed. […] Testing for heritable thrombophilic traits after a venous thrombotic event is not recommended as a routine to guide management decisions. […] Routine thrombophilia testing to first-degree relatives of people with a history of VTE is not recommended. […] Selective testing of asymptomatic first-degree relatives of probands with protein C, protein S and antithrombin deficiency may be considered where this may influence the management and life choices depending on personal circumstances. […] Testing for heritable thrombophilia is not recommended in patients with arterial thrombosis as the association between heritable thrombophilia and arterial thrombosis in adults is weak and does not alter the management. […] Testing for antiphospholipid antibodies in patients with arterial thrombosis in the absence of other vascular risk factors is recommended.

• #62 Thrombophilia Testing in Healthy Children with Related Family History | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/thrombophilia-testing-healthy-children-related-family-history

  For healthy children who have a family history of thrombosis or IT, the decision to perform IT testing should be made on an individual basis only after counseling the family regarding the potential benefits and limitations. […] Whenever possible, children should not be tested unless there is a first-degree family member with an IT. During the counseling, one should discuss how the results might affect the medical management of the child. Adolescents, particularly females, are likely to have the most to gain from IT testing. […] In addition to evaluating and managing children with VTE, we frequently counsel, evaluate, and educate patients and families regarding inherited thrombophilia testing and results.

• #63 Thrombophilia – Blood Clots

  https://www.stoptheclot.org/about-clots/thrombophilia/thrombophilia/

  The value of testing for thrombophilia is a matter of continued debate within the medical community and among families. […] Individuals with a confirmed thrombophilia may need to take special precautions when facing surgery, planning a pregnancy, anticipating an extended period of immobilization or choosing a contraceptive method or menopause treatment. […] Testing may be helpful in people for whom the suspicion of thrombophilia is realistically high, including those who have experienced a blood clot at a young age that was unprovoked. […] As with any medical decision, there are also concerns about testing, so screening for thrombophilia is an option that you and your healthcare provider should make together carefully. […] If you are diagnosed with a thrombophilia and haven’t had a blood clot, it is unlikely that you will be given preventive treatment unless you have other significant risk factors. […] While all thrombophilias increase the risk for blood clots, overall risk remains low.

• #64 Diagnosis of Inherited Thrombophilia in Pediatrics – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/november-2009/diagnosis-of-inherited-thrombophilia-in-pediatrics/

  Identification of inherited thrombophilia may help provide insight as to why the child developed thrombosis, particularly if the event was unprovoked (ie, no other risk factors). […] Thrombophilia testing in children who have a family member with a positive history of thrombophilia or VTE has become increasingly common, with little evidence to support this approach. […] The rationale for testing asymptomatic children may be to: identify children who are at increased risk for VTE, allow an opportunity for education about signs and symptoms of VTE, guide thromboprophylaxis in high-risk situations, promote lifestyle modification including avoidance of behavioral prothrombotic risk factors such as sedentary lifestyle, overweight/obesity, and smoking, and inform discussion about contraception and family planning.

• #65 Thrombophilia: Symptoms and Treatment | Doctor

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

  Testing for heritable thrombophilia is not recommended in patients with stroke, regardless of age. […] Testing for antiphospholipid antibodies should be considered in young (under 50 years of age) patients in the absence of identifiable risk factors for cardiovascular disease because this may alter management including choice of antithrombotic therapy. […] Testing for antithrombin deficiency may be considered in pregnant women with a known family history of this deficiency or evidence of heparin resistance. […] In women with a history of unprovoked VTE, testing for antiphospholipid antibodies should be performed outside pregnancy.

• #66 Tests for thrombophilias associated with fertility and pregnancy problems | Genosalut

  https://www.genosalut.com/en/genetic-testing-and-counselling/fertility/thrombophilia-and-pregnancy/

  The first step in the diagnosis of thrombophilia is usually a blood test to check the level of coagulation. […] These tests are usually done only when there is an indication for them, such as incidents of thrombosis, family history, recurrent miscarriages, etc. […] If the diagnosis of thrombophilia is confirmed, it is important that the gynaecologist collaborates with the haematologist to determine the appropriate treatment to enable pregnancy. […] Thrombophilia may be diagnosed in the context of fertility consultations. […] If a diagnosis of thrombophilia is confirmed in the woman, aspirin and heparin are usually scheduled during controlled follicular stimulation.

• #67 Diagnosis of Inherited Thrombophilia in Pediatrics – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/november-2009/diagnosis-of-inherited-thrombophilia-in-pediatrics/

  Thrombophilia refers to the propensity to develop thrombosis. Inherited thrombophilias, which can usually be identified through laboratory testing, are listed in Table 1. Identification of these inherited defects has prompted an increase in thrombophilia testing over the last 2 decades. […] The prevalence of inherited thrombophilia in the general population varies depending on the test and the ethnicity of the patient. […] However, when and if these children should be tested is still a matter of debate and should be made on an individual basis, with an understanding of the potential benefits and limitations of testing. […] Thrombophilia testing rarely influences the acute management of a child with a thrombotic event, with the exception of a neonate with a homozygous or double heterozygous deficiency of the anticoagulant proteins.

• #68 Diagnosis of Inherited Thrombophilia in Pediatrics – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/november-2009/diagnosis-of-inherited-thrombophilia-in-pediatrics/

  Knowledge of a thrombophilia in an adolescent female who may be considering oral contraceptive pills (OCPs) will allow her and her physician to discuss the increased risk of thrombosis associated with estrogen-containing contraception. […] As some acquired conditions may affect assay results, familiarizing oneself to the potential influence of these conditions is important in making an accurate interpretation. […] It is important to consider whether identifying an inherited defect could result in the implementation of effective thromboprophylaxis, given that the absolute risk of developing VTE in asymptomatic patients with thrombophilia is low. […] I think it is important to definitively address the role of inherited thrombophilia in specific subsets of patients (eg, neonates with catheter-related thrombosis, children with leukemia, adolescents with unprovoked thrombosis).

• #69 Thrombophilia differential diagnosis – wikidoc

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

  Thrombophilias must be differentiated from other diseases that cause the following clinical presentations: family history of thrombosis, especially at an early age ( 45 years), unprovoked thrombosis at an early age (40-55 for venous thrombosis and 50-55 for arterial thrombosis), recurrent thrombosis including deep venous thrombosis, pulmonary embolism, or superficial venous thrombosis. […] Thrombosis at multiple sites, or unusual locations including in cerebral, hepatic, portal, mesenteric, and renal veins. […] Thrombosis in arteries with the absence of arterial disease. […] History of fetal loss. […] History of warfarin skin necrosis. […] Doppler ultrasound should be used for diagnosis and follow up. […] When performing the gold standard test, beware of interference from samples positive for Factor V mutation, protein C deficiency and oral anticoagulants (rivaroxaban). […] Hormonal oral contraceptive pills can increase the risk of VTE. […] Both, arterial and venous thrombosis can occur. […] History of spontaneous abortions. […] Stroke and transient ischemic attack (TIA) are most common forms of presentation of arterial thrombosis.

• #70 Testing for thrombophilia: an evidence‐based approach

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2660493/

  Thrombophilia has both acquired and inherited causes. The clinical history, physical examination and some directed investigations may be used to assess acquired thrombophilia. Tests for heritable thrombophilia are often used inappropriately and nonselectively. We would encourage clinicians to carefully weigh the benefits, pitfalls and unwanted consequences before committing scarce resources to the performance of tests that are rarely likely to justifiably influence clinical management, and may generate anxiety.

Zobacz więcej