Materiały źródłowe

• #1 Thrombophilia, risk factors and prevention – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30773075/

  Fifty-three years after the first description of an inherited prothrombotic condition (antithrombin deficiency), our knowledge on hereditary and acquired causes of hypercoagulability that can predispose carriers to venous thromboembolism (VTE) has greatly improved. […] Finally, suggestions for thromboprophylaxis in carriers of hereditary thrombophilia according to current guidelines/evidence are made for the most challenging high-risk situations (i.e. surgery, pregnancy, contraception, cancer, economy class syndrome) as well as for the prevention of post-thrombotic syndrome. […] A carrier of inherited thrombophilia should be evaluated in the framework of other (genetic and/or acquired) coexisting risk factors for first or recurrent VTE when assessing the need and duration of prevention (primary prophylaxis).

• #2 Thrombophilia: Symptoms & Treatment

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

  You cant prevent thrombophilia that you got from your parents, but you may be able to prevent some acquired thrombophilias. […] If youre at a high risk of blood clots, your provider may give you: Heparin after surgery if youre at risk for a venous thromboembolism (VTE). […] Antithrombin injection before and after surgery if you dont have enough antithrombin. […] Compression stockings or an intermittent pneumatic compression device if youre 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. […] You can lower your risk of acquired thrombophilia on your own by: Avoiding tobacco products. […] Staying at a weight thats healthy for you. […] Walking around every hour or two on a long flight or car ride.

• #3 Thrombophilia, risk factors and prevention – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30773075/

  Prevention strategies should be tailored to each patient and every situational risk factor. […] The knowledge of the carriership status of severe thrombophilia in the proband can be important to provide asymptomatic relatives with adequate counseling on thrombophilia screening or primary thromboprophylaxis.

• #4 The Risk Factors of Thrombogenic, Thrombophilia, and the Principle for Heparin Prophylaxis in Personalized Medicine | IntechOpen

  https://www.intechopen.com/chapters/51281

  We consider that any cause promoting thrombus formation can be referred to as thrombogenic risk factors, which can manifest itself or not, by thrombosis in patients throughout life. We suggest referring those pathological states or syndromes, which manifested themselves as thrombotic events (e.g., antiphospholipid syndrome) to thrombophilia. It allows for a reduction in hyperdiagnostics of thrombophilia and identifying patients with thrombophilia and patients in need of secondary thromboprophylaxis, taking into account their identified thrombogenic risk factors. […] From the point of view of personalized medicine, controllable risk factors should be identified in patients with the aim of elimination or modification, thereby reducing the likelihood of thrombosis. On the other hand, the presence of enhanced thrombin generation or excessive fibrin formation (in thrombodynamics test) among the manifestations of thrombotic state of readiness can be referred to as objective reasons for the prescription of anticoagulants.

• #5 Primary prophylaxis of venous thromboembolic disease with direct oral anticoagulants in patients with severe inherited thrombophilia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7938623/

  In conclusion, primary VTE prophylaxis using a DOAC should be considered in patients with AT deficiency or other severe inherited thrombophilia forms who carry a high risk of thrombosis. Family history, underlying genetic variants, presence of comorbidities, and risk factors for bleeding should be carefully taken into account.

• #6

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

  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. […] The thrombophilia investigation should not be performed with the individual goal of defining the duration of the anticoagulation therapy. […] In the case of a patient aged 60 years and/or one or more robust causes of acquired thrombophilia the physician should omit thrombophilia testing, particularly genetic tests.

• #7 Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis | The BMJ

  https://www.bmj.com/content/359/bmj.j4452

  Objective To provide evidence to support updated guidelines for the management of pregnant women with hereditary thrombophilia in order to reduce the risk of a first venous thromboembolism (VTE) in pregnancy. […] Women with antithrombin, protein C, or protein S deficiency or with homozygous factor V Leiden should be considered for antepartum or postpartum thrombosis prophylaxis, or both. Women with heterozygous factor V Leiden, heterozygous prothrombin G20210A mutation, or compound heterozygous factor V Leiden and prothrombin G20210A mutation should generally not be prescribed thrombosis prophylaxis on the basis of thrombophilia and family history alone. […] In this systematic review and meta-analysis we show that all women with inherited thrombophilia have an increased risk of pregnancy associated VTE. We have calculated high absolute risk estimates for pregnancy associated VTE for women with deficiency of antithrombin, protein C, or protein S and a positive family history for VTE, and for all women with homozygous factor V Leiden mutation. Although further research is needed for more precise risk estimates, in these women routine thrombosis prophylaxis should be considered. The risk estimates and chosen thresholds for treatment do not support routine use of thrombosis prophylaxis in women with heterozygous factor V Leiden or heterozygous prothrombin G20210A mutations or compound heterozygous factor V Leiden and prothrombin G20210A mutation. The data in this review should be considered in future management guidelines on pregnancy associated VTE risk in women with hereditary thrombophilia.

• #8 Anticoagulation in Thrombophilia | IntechOpen

  https://www.intechopen.com/chapters/81022

  Thrombophilia is a condition of hypercoagulability, which is defined as an abnormality of blood clotting, disturbing the balance between procoagulants and anticoagulants in favor of the former, thus increasing the risk of thrombosis. […] Treatment of thrombophilia differs while most conditions do not require anticoagulation as primary prophylaxis, secondary prophylaxis may require transient or permanent anticoagulation. […] The use of anticoagulants for primary prophylaxis has selected indications, such as for transient risk factors (prolonged hospitalization, postoperative status, certain orthopedic conditions) or may be considered for patients with high-risk hereditary thrombophilia, although for the latter there are not a large number of studies to support this indication. […] A patient who has developed a deep vein thrombosis and/or pulmonary embolism, whether provoked or unprovoked, should begin treatment with a direct oral anticoagulant for 36 months, according to the 2020 guidelines developed by the American Society of Hematology.

• #9 Primary prophylaxis of venous thromboembolic disease with direct oral anticoagulants in patients with severe inherited thrombophilia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7938623/

  Direct oral anticoagulants (DOACs) are widely used in several indications, but data on their efficacy and safety in individuals affected by severe inherited thrombophilia, yet without any personal history of thrombosis, is lacking. […] In this article, we propose primary prevention with low-dose DOACs for certain patients with severe inherited thrombophilia but without any personal history of VTE, while taking into consideration the type of thrombophilia, family history, comorbidities, and bleeding risk. […] We suggest considering primary prophylaxis with low-dose DOACs in high-risk thrombophilia. […] Given their high VTE risk, we now consider conducting primary prophylaxis with a low-dose DOAC (eg, rivaroxaban 10 mg once daily or apixaban 2.5 mg twice daily) for individuals exhibiting AT deficiency with a positive VTE family history, yet without any personal VTE events in the past.

• #10 The Risk Factors of Thrombogenic, Thrombophilia, and the Principle for Heparin Prophylaxis in Personalized Medicine | IntechOpen

  https://www.intechopen.com/chapters/51281

  The modern practice of anticoagulant prescription still consider low molecular weight heparin (LMWH) as a gold standard for the prevention of thrombosis in pregnancy, cancer, and postoperative thromboprophylaxis even though the whole group of new oral anticoagulants is used more often. […] The objective of this chapter is to find the perspective approaches for diagnostic and consultative assistance of patients with VTE. These approaches will involve the definition of thrombophilia and thrombogenic risk factors, as well as the state of thrombotic readiness when considering the advisability of heparin prophylaxis from the view point of personalized medicine. […] Thus, it can be observed that there are no significant differences between thrombogenic risk factors and thrombophilia in modern guidelines and recommendations.

• #11 Prevention of Thromboembolic Disease and Thrombophilias in Pregnancy | Article | GLOWM

  https://www.glowm.com/article/heading/vol-8–maternal-medical-health-and-disorders-in-pregnancy–prevention-of-thromboembolic-disease-and-thrombophilias-in-pregnancy/id/414623

  Prophylactic anticoagulation during pregnancy should ideally be undertaken with low-molecular-weight heparin (LMWH). […] Women who merit prophylactic anticoagulation with LMWH during pregnancy to prevent VTE include those with any prior VTE and a known thrombophilia. […] Women without prior VTE who have a low-risk thrombophilia should not receive routine prophylactic anticoagulant therapy during pregnancy but should all have an individualized VTE risk assessment and be counseled regarding active surveillance for symptoms of VTE during pregnancy. […] Women with the obstetrical antiphospholipid antibody syndrome should receive low-dose aspirin (81162 mg/d) +/ prophylactic-dose LMWH throughout pregnancy in order to improve pregnancy outcomes.

• #12 Prevention of Thromboembolic Disease and Thrombophilias in Pregnancy | Article | GLOWM

  https://www.glowm.com/article/heading/vol-8–maternal-medical-health-and-disorders-in-pregnancy–prevention-of-thromboembolic-disease-and-thrombophilias-in-pregnancy/id/414623

  Pregnancy is a state of heightened coagulability, leading to an increased risk for venous thromboembolism (VTE). […] Given these multiple prothrombotic tendencies, it is not surprising that pregnant women have a 510 fold higher risk of thrombotic complications than similar non-pregnant women with an absolute risk of ~1.21.7 per 1000 pregnancies. […] Although the threshold of VTE risk which justifies the antepartum use of low-molecular-weight heparin to reduce thrombotic risk is unclear, most practitioners would agree that women with a VTE risk greater than 1% should be considered for antepartum (and postpartum) thromboprophylaxis. […] Women with multiple (3) clinical risk factors should be offered thromboprophylaxis with LMWH during pregnancy. […] Ongoing thromboprophylaxis of high-risk women is essential in the postpartum period.

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

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

  Pregnancy is a well-known hypercoagulable state and inherited thrombophilias can further increase the risk for maternal venous thromboembolism (VTE). ACOG addresses the different thrombophilias as well as associations with possible adverse pregnancy outcomes. […] Anticoagulation for VTE Prophylaxis […] Low-risk thrombophilia without personal VTE history […] Antepartum […] Surveillance without anticoagulation therapy […] Postpartum […] Surveillance without anticoagulation therapy or […] Postpartum prophylactic anticoagulation therapy if additional risk factors (e.g., obesity, immobilization, cesarean section) […] Low-risk thrombophilia plus first-degree relative VTE history […] Antepartum […] Surveillance without anticoagulation therapy or […] Prophylactic LMWH/UFH […] Postpartum

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

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

  Postpartum prophylactic anticoagulation therapy or […] Intermediate-dose LMWH/UFH […] High-risk thrombophilia without previous VTE […] Antepartum: […] Prophylactic or intermediate-dose LMWH/UFH […] Postpartum […] Postpartum prophylactic anticoagulation therapy or […] Intermediate-dose LMWH/UFH […] High-risk thrombophilia with one previous episode of VTE or affected first-degree relative (not receiving long-term anticoagulation therapy) […] Antepartum […] Prophylactic or […] Intermediate-dose LMWH/UFH or […] Adjusted-dose LMWH/UFH […] Postpartum […] Postpartum prophylactic anticoagulation therapy or […] Intermediate-dose LMWH/UFH or […] Adjusted-dose LMWH/UFH for 6 weeks (therapy level should equal selected antepartum treatment) […] Thrombophilia with ≥2 VTE episodes (not receiving long-term anticoagulation therapy)

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

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

  Antepartum […] Intermediate-dose LMWH/UFH or […] Adjusted-dose LMWH/UFH […] Postpartum […] Intermediate-dose LMWH/UFH or […] Adjusted-dose LMWH/UFH for 6 weeks (therapy level should equal selected antepartum treatment) […] Thrombophilia with ≥2 VTE episodes (receiving long-term anticoagulation therapy) […] Antepartum […] Adjusted-dose LMWH/UFH […] Postpartum […] Resumption of long-term anticoagulation therapy […] Note: Consider sequential compression devices (SCDs) […] Intrapartum […] Indicated in patients with known thrombophilia until fully ambulatory postpartum […] Cesarean section […] All women undergoing cesarean delivery […] Add pharmacologic prophylaxis depending on clinical scenario […] ACOG states “There is insufficient evidence to recommend anticoagulation as an intervention to prevent adverse pregnancy outcomes among women with inherited thrombophilias.”

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

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

  Thrombophilia in a patient with no episodes of thrombosis requires no prophylactic treatment outside periods of a particularly high risk (eg, major surgery). […] All patients with a known thrombophilia who are in high-risk situations, including those with cancer and pregnant patients, should be regularly monitored for VTE; if there are additional thrombosis risk factors, preventative therapy may be administered (eg, antithrombotic prevention in patients with cancer or selected pregnant women: see Primary Prevention of Venous Thromboembolism). […] The highest risk of VTE is the 6 weeks after delivery; prophylaxis may be considered during this period even if it has not been used throughout pregnancy.

• #17 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

  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. […] Prophylaxis is recommended in patients who are homozygotes for factor V Leiden or prothrombin 20210, or those who have multiple thrombophilias, Dr. Mims said: Those patients should have prophylaxis during that six- to 12-week period after delivery. […] For long-distance travel, the ASH recommends that VTE prophylaxis should be considered only in people with more than one risk factor, such as recent surgery, VTE history, oral contraceptive use, or pregnancy. […] Hospitalization is even more common risk factor for thromboembolism. In acutely ill medical patients, low-molecular-weight heparin (LMWH) or unfractionated heparin is recommended for everyone to prevent clots, regardless of mutation status, Dr. Mims said.

• #18 Venous thromboembolism in pregnancy: Prevention – UpToDate

  https://www.uptodate.com/contents/venous-thromboembolism-in-pregnancy-prevention

  Venous thromboembolism in pregnancy: Prevention […] Pregnancy and the puerperium are well-established risk factors for deep vein thrombosis and pulmonary embolism, which are collectively referred to as venous thromboembolic (VTE) disease. The need for thromboprophylaxis should be assessed antepartum, postpartum, and at any time the patient transitions from the outpatient to inpatient setting. When it is determined that thromboprophylaxis is warranted, an appropriate strategy should be selected and prescribed. […] Thromboprophylaxis can be pharmacologic (ie, anticoagulation) or mechanical (eg, intermittent pneumatic compression devices or graduated compression stockings). Indications, method, and duration of thromboprophylaxis in pregnant females are the major focuses of this topic. Issues concerning the use of anticoagulants during pregnancy and prevention of VTE in medical, surgical, and gynecologic patients are discussed separately.

• #19 Recurrent Venous Thromboembolism | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0400/p377.html

  Indefinite secondary prevention with DOACs in patients with unprovoked VTE is supported by evidence demonstrating a VTE-related and an overall mortality benefit. […] Mitigating risk factors (e.g., stopping hormone therapy) can help prevent future VTE. […] Antepartum VTE prophylaxis is strongly recommended in patients with a history of unprovoked or hormonally associated VTE. All pregnant patients with a history of VTE should receive postpartum prophylaxis for six weeks. […] Guidelines recommend a longer duration of VTE prophylaxis after orthopedic, abdominal, and pelvic surgeries.

• #20 Thrombophilia: Symptoms & Treatment

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

  Avoiding medicines that contain estrogen. […] Getting up and walking as soon after surgery as you can. […] Making exercise part of your routine. […] Getting treatment for medical conditions that can cause thrombophilia. […] Following your providers instructions for taking a blood thinner medication. […] Making sure youre up to date with all cancer screenings your provider recommends for you. Cancer is a strong risk factor for developing blood clots.

• #21 The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated | Blogs | CDC

  https://blogs.cdc.gov/genomics/2016/12/15/the-appropriateness/

  However, there are important scenarios where thrombophilia panel testing is appropriate. For example, women with Factor V Leiden (FVL) who take oral contraceptives are at higher risk for developing VTE and, if tested and found to have FVL, can be prescribed a more appropriate non-hormonal contraceptive. […] Depending on the clinical reasons for ordering, thrombophilia testing may or may not be a Tier 3 application. […] If patients use test results to adopt measures such as avoidance of prolonged inactivity to reduce their risk of developing blood clots, testing may have clinical value. […] Therefore, it is important to understand the underlying reasons why thrombophilia tests are ordered in order to estimate how many fall in the Tier 3 application category.

• #22 Hypercoagulable states – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hypercoagulable-states/

  Primary prevention is generally not recommended. However, some high-risk patients may benefit from managing modifiable risk factors and primary prophylaxis measures. […] Primary prophylactic measures are also recommended in the absence of laboratory findings of thrombophilia if patients have a strong family history of thrombophilia. […] Avoid OCPs in patients who are carriers of Factor V Leiden.

• #23 Thrombophilia: Symptoms and Treatment | Doctor

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

  Patients should be aware of their condition and how to recognise symptoms of VTE. […] Ensure mobility and adequate hydration. […] Extra precautions and short-term thromboprophylaxis may be needed at times of increased risk – eg, surgery, immobility, pregnancy and postnatally. […] The use of short- or long-term anticoagulation should be considered, weighing up the reduction of VTE risk against the risk of serious haemorrhage. […] All patients with known thrombophilia or previous VTE – consider short-term thromboprophylaxis at times of increased VTE risk. […] Patients with 2 spontaneous VTEs – consider indefinite anticoagulation. […] Patients with recurrent VTEs linked to a provoking factor (eg, surgery, pregnancy, oestrogen use) may not require long-term anticoagulation but do require prophylaxis during any further high-risk situations.

• #24 Thrombophilia

  https://www.nhs.uk/conditions/thrombophilia/

  Thrombophilia is a condition where your blood clots more easily. It can usually be treated with medicines that help prevent blood clots. […] If you need treatment, you’ll usually be offered anticoagulant medicine. It works by making your blood less sticky so it’s less likely to clot. […] For many people, thrombophilia does not have a big impact on their life. But there are things you can do to reduce the risk of getting blood clots. […] Tell your doctor or healthcare professional that you have thrombophilia before having any medical procedures or starting any new prescription medicines (including contraception). Some medicines may not be safe for you, and you may need extra treatment or monitoring when you have medical procedures. […] If you are pregnant or planning a pregnancy, you should contact your GP if you have thrombophilia. You may need additional treatment and monitoring to reduce complications.

• #25

  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 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.

• #26

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

  Thrombophilia testing is performed far more frequently than can be justified based on available evidence; the majority of such testing is not of benefit to the patient and may be harmful. Thrombophilia testing should not be performed in patients with VTE following a major provocation as extended anticoagulation is not indicated in these cases. […] Testing may benefit select patients who would otherwise stop anticoagulation. Thrombophilia testing is not indicated in most family members of patients with VTE, as appropriate decisions regarding use of prophylaxis in high-risk situations and choice of contraceptive methods can be made on the basis of family history alone.

• #27 Thrombophilia Testing and Venous Thrombosis

  https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2017/10/20/11/18/thrombophilia-testing-and-venous-thrombosis

  The majority of patients with venous thromboembolism (VTE) should not be tested for thrombophilia. Data supporting clinical usefulness and benefits are limited or nonexistent. […] Most patients with inherited thrombophilia can be identified by coagulation experts based on the patients personal and family history of VTE. Thrombophilia testing is usually not required. […] Do not perform thrombophilia testing at the time of a VTE event, as it can be inaccurate (often false positive). Perform testing (when indicated) after completion of initial therapy and if it might change management strategies. […] The goal of thrombophilia testing should be to aid decision making regarding future VTE prophylaxis, to guide testing of family members, and to determine the cause in severe or fatal VTE. Test results alone should not be used to decide on the duration of anticoagulation therapy.

• #28 Hereditary thrombophilia | Thrombosis Journal | Full Text

  https://thrombosisjournal.biomedcentral.com/articles/10.1186/1477-9560-4-15

  Current treatment for thrombophilias involves both prophylaxis with low-molecular-weight heparin and treatment involving heparin, warfarin or purified factor concentrate. The presence of an inherited thrombophilia should not alter the intensity of anticoagulant therapy, given that antithrombin, protein C, or protein S deficiency, factor V Leiden, and the prothrombin G20210A mutation are not unusually anticoagulant resistant. However, they can increase the optimal treatment duration after a first thromboembolic event. […] Clinical trials on treatment are essential since they will provide physicians with the information to determine whether or how they should modify their clinical practice. Correctly identifying hereditary risk factors, together with appropriate genetic evaluation and counseling, will allow the informed patient and physician to work together for effective management of thrombophilia and prevention of subsequent thrombotic events.

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