Materiały źródłowe

• #1 Thrombophilia

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

  Thrombophilia is a condition where your blood clots more easily. […] There are 2 types of thrombophilia, which have different causes. […] Youre born with certain altered genes that increase your risks of blood clots. […] You get an increased risk of clots in later life due to another condition, such as antiphospholipid syndrome or a problem with your liver or kidneys. […] There is currently no cure for thrombophilia thats caused by altered genes you inherit from your parents (inherited thrombophilia). […] Thrombophilia that starts later in life (acquired thrombophilia) can sometimes get better if the underlying cause is treated.

• #2 Hereditary thrombophilia | Thrombosis Journal | Full Text

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

  Thrombophilia can be defined as a predisposition to form clots inappropriately. […] The predisposition to form clots can arise from genetic factors, acquired changes in the clotting mechanism, or, more commonly, an interaction between genetic and acquired factors. […] A hereditary thrombophilia results when an inherited factor, such as antithrombin or protein C deficiency, requires interaction with components that are inherited or acquired before onset of a clinical disorder. […] However, milder heterozygous traits, when existing alone, are more often discovered by laboratory investigation. […] Since the turn of the last century, there has been extensive research focusing on both the genetic and acquired causes of thrombophilia, with particular focus on clotting events in the venous circulation.

• #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 has a multifactorial and complex etiology, being both hereditary and acquired. The presence of a thrombophilic defect is just one of several factors influencing the risk of developing the condition. […] Understanding the mechanisms behind this shift characterized by excessive thrombin generation is clinically complex due to the interplay among various coagulation factors and their interactions with blood vessels, endothelial cells, platelets, and other circulating cells. […] Hereditary thrombophilias include a group of genetic disorders, with the most notable being Factor V Leiden mutation, prothrombin (Factor II) gene mutation, and deficiencies in antithrombin III, protein C, or protein S. […] Acquired thrombophilia refers to conditions that develop over a person’s lifetime without a genetic predisposition. It is characterized by immune system alterations that result in the production of antibodies attacking blood vessel walls, thereby increasing thrombosis risk. […] Although acquired factors play a significant role in thrombosis development, genetic predisposition is considered the most severe risk factor, accounting for up to 60% of cases.

• #4 Thrombophilia causes – wikidoc

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

  Thrombophilia may be caused by either acquired, inherited, or, more commonly, a combination of both conditions. […] The cause of thrombosis is multifactorial which causes an imbalance in endogenous anticoagulation and hemostasis through a complex pathophysiologic mechanism. […] Hypercoagulability disorders are either acquired or inherited. However, actual thrombosis occurs due to the interplay of both genetic and environmental factors and follows the multiple hit hypothesis, thereby explaining the inter-individual differences observed in patients with inherited mutations. […] Inherited forms can be identified in up to 30% of patients with venous thromboembolism and are mainly attributable to factor V Leiden and prothrombin G2021A mutation. […] Acquired factors are far more common and influence the coagulation cascade by multitude of factors including medications (e.g., oral contraceptives, estrogen or other hormonal replacement), recent inflammatory conditions such as pregnancy, surgery, trauma, or infection, and chronic inflammatory conditions (e.g., morbid obesity, rheumatologic disease, ulcerative colitis, heavy smoking).

• #5 Hypercoagulability – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538251/

  Hypercoagulability or thrombophilia is the increased tendency of blood to thrombose. […] Hypercoagulability disorders are either acquired or inherited. […] However, actual thrombosis occurs due to the interplay of both genetic and environmental factors and follows the multiple hit hypothesis, thus explaining the inter-individual differences observed in patients with inherited mutations. […] Genetic factors can now be identified in up to 30% of patients with VTE and are mainly attributable to factor V Leiden and prothrombin G2021A mutation. […] These two thrombophilias implicate a weak thrombotic risk. […] Other inherited thrombophilias are rare such as antithrombin III, protein C and protein S deficiency (around 1% in the general population) but pose a higher risk for thrombosis.

• #6 Hypercoagulability – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538251/

  Hypercoagulability or thrombophilia is the increased tendency of blood to thrombose. […] Hypercoagulability disorders are either acquired or inherited. […] However, actual thrombosis occurs due to the interplay of both genetic and environmental factors and follows the multiple hit hypothesis, thus explaining the inter-individual differences observed in patients with inherited mutations. […] Genetic factors can now be identified in up to 30% of patients with VTE and are mainly attributable to factor V Leiden and prothrombin G2021A mutation. […] These two thrombophilias implicate a weak thrombotic risk. […] Other inherited thrombophilias are rare such as antithrombin III, protein C and protein S deficiency (around 1% in the general population) but pose a higher risk for thrombosis.

• #7 Hereditary and Acquired Hypercoagulability: Practice Essentials, COVID-19, Pathophysiology

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

  Patients with acquired hypercoagulable states or hereditary thrombophilia are more likely to develop clots, venous thrombosis, and arterial thrombosis, than healthy individuals. […] The most common acquired risk factors for hypercoagulability and thrombosis are as follows: Advanced age, Immobilization, Inflammation, Pregnancy, Oral contraceptive use, Obesity, Diabetes mellitus, Hormone replacement therapy, Cancer (especially adenocarcinoma), Antiphospholipid syndrome. […] About 50% of patients presenting with a first idiopathic venous thrombosis have an underlying thrombophilia. […] Hereditary thrombophilias should be suspected in individuals with a history of recurrent thromboembolism, thrombosis at a young age ( 40 years), and/or a family history of thrombosis. Hereditary thrombophilias include the following: Factor V Leiden, Prothrombin 20210A, Protein C deficiency, Protein S deficiency, Antithrombin deficiency.

• #8 Thrombophilia – Wikipedia

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

  The most common types of congenital thrombophilia are those that arise as a result of overactivity of coagulation factors; hence they are considered „gain-of-function” alterations. They are relatively mild in the usual heterozygous state, and are therefore classified as „type II” defects. The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin G20210A, a mutation in prothrombin (at position 20210 in the 3′ untranslated region of the gene). […] The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. They are classified as „type I” and are more severe in their propensity to cause thrombosis. The main ones are antithrombin III deficiency, protein C deficiency and protein S deficiency. […] A number of acquired conditions augment the risk of thrombosis. A prominent example is antiphospholipid syndrome, which is caused by antibodies against constituents of the cell membrane, particularly lupus anticoagulant, anti-cardiolipin antibodies, and anti-2-glycoprotein 1 antibodies; it is therefore regarded as an autoimmune disease.

• #9 What Is Thrombophilia?

  https://www.webmd.com/dvt/thrombophilia-overview

  There are two main types of thrombophilia: […] Inherited thrombophilia comes in several forms. The most common are factor V Leiden mutation, which 1 in 20 people of European descent have, and the prothrombin G20210A gene mutation or factor II mutation, which happens in 2% of the population. […] Acquired thrombophilia. This is when your liver, kidney, or another organ doesnt make or clear away clotting proteins as it should. It often happens after bed rest following a surgery or because of a major illness like cancer. Antiphospholipid antibody syndrome is the most common acquired thrombophilia. It is an autoimmune disorder that may raise your chances of having pregnancy complications and miscarriage.

• #10

  https://journals.lww.com/ijhm/fulltext/2017/06020/inherited_thrombophilia__diagnostic_approach.2.aspx

  The FVL mutation is a point mutation in the exon 10 of Factor V gene in chromosome 1, single-nucleotide substitution (guanine to adenine) at nucleotide 1691 in Factor V gene leads to an amino acid arginine substituted by glutamine at position 506. […] The inheritance of FVL is an autosomal dominant fashion with incomplete dominance, which means that many people carrying the mutation do not suffer any consequence. […] Increased knowledge about the clinical presentation, etiology, and investigations of thrombophilia whether secondary or primary types is important, especially in areas with low resources like ours. […] Low evidence based medicine on the etiology of thrombophilia in our society is the main problem due to low resources and limited thrombophilia investigations especially those required genetic level of study and many cases remain undiagnosed.

• #11 The Genetics of Thrombophilia – Blood Clots

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

  While there are a number of mutations that can cause inherited thrombophilia, the most common DNA mutations are named factor V Leiden and prothrombin G20210A. Understanding how these two mutations occur can be applied to the other mutations that result in inherited thrombophilia. […] Individuals with the factor V Leiden mutation have inherited thrombophilia. […] When a person has factor V Leiden, the mutation causes the protein to be abnormally shaped. This abnormal shape prevents it from being broken down properly by proteins C and S. Since the factor V protein is not broken down, it is left in the blood for a longer period of time and increases the tendency for clotting. […] People who have a mutation in the prothrombin gene produce more prothrombin protein than is normal. Since there is more of the prothrombin protein in the blood, this increases the tendency for clotting.

• #12 Factor V Leiden – Wikipedia

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

  Factor V Leiden is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). […] Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots. […] Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans. […] Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. […] The condition results in a factor V variant that cannot be as easily degraded by activated protein C.

• #13 Inherited causes of Thrombosis

  https://med.uth.edu/pediatrics/hematology/gshtc/conditions-we-treat/inherited-causes-of-thrombosis/

  Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. […] Antithrombin deficiency may also be acquired; in such cases, the disorder may be reversible with resolution/improvement in the disease process responsible for the deficiency. […] Individuals who have inherited one copy of the gene for factor V Leiden (heterozygotes) have a 3- to 10-fold increased risk of DVT or PE; individuals who have inherited two copies of the gene (homozygotes) have an 80- to 100-fold increased risk. […] Prior to the discovery of factor V Leiden, fewer than 10 percent of cases of thrombosis could be explained by an inherited thrombophilia. […] Protein C deficiency is a rare genetic disorder characterized by a deficiency of protein C, which is a natural anticoagulant.

• #14 Factor V Leiden – Wikipedia

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

  The mutation prevents efficient inactivation of factor V. […] When factor V remains active, it facilitates overproduction of thrombin leading to generation of excess fibrin and excess clotting. […] The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT). […] If the venous clots break off, these clots can travel through the right side of the heart to the lung where they block a pulmonary blood vessel and cause a pulmonary embolism. […] It is extremely rare for this disorder to cause the formation of clots in arteries that can lead to stroke or heart attack. […] The risk of developing a clot in a blood vessel depends on whether a person inherits one or two copies of the factor V Leiden mutation. […] Inheriting one copy of the mutation from a parent (heterozygous) increases by fourfold to eightfold the chance of developing a clot. […] People who inherit two copies of the mutation (homozygous), one from each parent, may have up to 80 times the usual risk of developing this type of blood clot.

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

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

  Thrombophilia is a condition in which theres an imbalance in naturally occurring blood-clotting proteins, or clotting factors. This can put you at risk of developing blood clots. […] There are quite a few types of thrombophilia, some youre born with and some you develop later in life. […] Factor V Leiden thrombophilia is the most common of the genetic forms, mainly affecting people of European ancestry. Its a mutation of the F5 gene. […] The second most common genetic type is prothrombin thrombophilia, which mainly affects people of European ancestry. It involves a mutation in the F2 gene. […] The most common acquired type is antiphospholipid syndrome. […] Other causes of acquired thrombophilia include prolonged bed rest, such as during illness or following a hospital stay, cancer, traumatic injury, and acquired dysfibrinogenemia.

• #16 Thrombophilia – Wikipedia

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

  The most common types of congenital thrombophilia are those that arise as a result of overactivity of coagulation factors; hence they are considered „gain-of-function” alterations. They are relatively mild in the usual heterozygous state, and are therefore classified as „type II” defects. The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin G20210A, a mutation in prothrombin (at position 20210 in the 3′ untranslated region of the gene). […] The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. They are classified as „type I” and are more severe in their propensity to cause thrombosis. The main ones are antithrombin III deficiency, protein C deficiency and protein S deficiency. […] A number of acquired conditions augment the risk of thrombosis. A prominent example is antiphospholipid syndrome, which is caused by antibodies against constituents of the cell membrane, particularly lupus anticoagulant, anti-cardiolipin antibodies, and anti-2-glycoprotein 1 antibodies; it is therefore regarded as an autoimmune disease.

• #17 Prothrombin thrombophilia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/

  Prothrombin thrombophilia is a disorder that increases the risk of developing blood clots. Thrombophilia is the term used to describe an increased tendency to form blood clots. […] People who have prothrombin thrombophilia have a higher-than-average risk of developing a type of clot called a deep vein thrombosis, which typically occurs in the blood vessels of the arms or legs. People with prothrombin thrombophilia also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. […] A particular variant in the F2 gene causes most cases of prothrombin thrombophilia. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene is called prothrombin (also known as coagulation factor II). Prothrombin is the precursor to a protein called thrombin that initiates a series of chemical reactions to form a blood clot.

• #18 Prothrombin thrombophilia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/

  The variant in the F2 gene that causes most cases of prothrombin thrombophilia triggers the production of too much prothrombin. More prothrombin leads to more thrombin, which promotes the formation of blood clots. […] Prothrombin thrombophilia is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing harmful blood clots. Individuals who have a variant in one of the two copies of the F2 gene have a risk of developing harmful blood clots that is two to five times greater than average. […] Because the F2 gene variant that causes most cases of prothrombin thrombophilia is common in certain populations, it is possible for an individual to inherit this variant from both parents.

• #19 Hypercoagulability – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538251/

  Acquired factors also influence the coagulation cascade and include surgery, pregnancy, hormonal replacement therapy, contraception, malignancy, inflammation, infection, and heparin-induced thrombocytopenia. […] The most common genetic risk factor for thrombophilia is Factor V Leiden mutation. […] It increases the risk of thrombosis by enhanced thrombin production. […] The prothrombin G20210A mutation is the second most common inherited risk factor for thrombosis and leads to increased levels of prothrombin which demonstrates a higher risk for arterial and venous thrombotic events. […] Hyperhomocysteinemia is associated with premature atherosclerosis and thrombosis and caused by defects of the methionine metabolic pathway. […] The most common acquired thrombophilia is the antiphospholipid syndrome (APS) in which antibodies are directed against natural constituents of cell membranes, the phospholipids.

• #20 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Antithrombin III (AT) deficiency, defined as an AT activity level consistently less than 80%, is associated with a significantly increased risk of VTE. […] Hyperhomocysteinemia can occur by both genetic and acquired abnormality. […] The most common genetic defect resulting in hyperhomocysteinemia is a mutation of the enzyme methylenetetrahydrofolate reductase (MTHFR). […] The presence of PGM generally does not impact the decision making with regards to the duration of anticoagulation management. […] The risk of recurrence after a first episode of symptomatic venous thromboembolism provoked by a transient risk factor: A systematic review.

• #21 Thrombophilia: Symptoms and Treatment | Doctor

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

  Antiphospholipid syndrome: Associated with both venous and arterial thrombosis. […] Acquired antithrombin deficiency: Due to liver disease, nephrotic syndrome, disseminated intravascular coagulation or pregnancy. […] Hyperhomocysteinaemia: May be inherited or acquired (deficiencies of folic acid, vitamins B12 and B6 may contribute). […] Other factors possibly involved in thrombophilia are plasminogen deficiency, plasminogen activator, plasminogen activator inhibitor, heparin cofactor II deficiency and histidine-rich glycoprotein.

• #22 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  The mutation makes factor V resistant to inactivation by activated protein C (aPC), a protein that normally helps regulate blood clotting and prevent excessive clot formation, resulting in an increased risk of VTE. […] The prothrombin G20210A gene mutation (PGM) is a gain-of-function mutation that leads to higher levels of prothrombin, and thus elevated thrombin formation, resulting in an increased risk of VTE. […] Protein C (PC) is an anticoagulant protein synthesized in the liver. […] PC deficiency results in the reduced inactivation of factors Va and VIIIa, thus increasing the risk of VTE. […] Protein S (PS) is a cofactor for aPC, which inactivates the procoagulant factors Va and VIIIa, reducing thrombin generation. […] PS deficiency impairs the normal control of this mechanism, resulting in an increased risk of VTE.

• #23 Inherited causes of Thrombosis

  https://med.uth.edu/pediatrics/hematology/gshtc/conditions-we-treat/inherited-causes-of-thrombosis/

  Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. […] Antithrombin deficiency may also be acquired; in such cases, the disorder may be reversible with resolution/improvement in the disease process responsible for the deficiency. […] Individuals who have inherited one copy of the gene for factor V Leiden (heterozygotes) have a 3- to 10-fold increased risk of DVT or PE; individuals who have inherited two copies of the gene (homozygotes) have an 80- to 100-fold increased risk. […] Prior to the discovery of factor V Leiden, fewer than 10 percent of cases of thrombosis could be explained by an inherited thrombophilia. […] Protein C deficiency is a rare genetic disorder characterized by a deficiency of protein C, which is a natural anticoagulant.

• #24 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  The mutation makes factor V resistant to inactivation by activated protein C (aPC), a protein that normally helps regulate blood clotting and prevent excessive clot formation, resulting in an increased risk of VTE. […] The prothrombin G20210A gene mutation (PGM) is a gain-of-function mutation that leads to higher levels of prothrombin, and thus elevated thrombin formation, resulting in an increased risk of VTE. […] Protein C (PC) is an anticoagulant protein synthesized in the liver. […] PC deficiency results in the reduced inactivation of factors Va and VIIIa, thus increasing the risk of VTE. […] Protein S (PS) is a cofactor for aPC, which inactivates the procoagulant factors Va and VIIIa, reducing thrombin generation. […] PS deficiency impairs the normal control of this mechanism, resulting in an increased risk of VTE.

• #25 Inherited causes of Thrombosis

  https://med.uth.edu/pediatrics/hematology/gshtc/conditions-we-treat/inherited-causes-of-thrombosis/

  Protein S deficiency is a rare genetic disorder of blood coagulation that is caused by a variation in the PROS1 gene. […] Prothrombin 20210 Mutation, also called Factor II Mutation is a genetic condition that causes an increase in the likelihood of your blood forming dangerous blood clots. […] They are said to have an inherited thrombophilia (clotting disorder) called prothrombin G20210A. When this occurs, they make too much of the prothrombin protein. […] People who have a mutation in the prothrombin gene produce more prothrombin protein than is normal. Since there is more of the prothrombin protein in the blood, this increases the tendency to form clots.

• #26 What is Thrombophilia? | Risks, causes, signs, diagnosis, treatment

  https://cpdonline.co.uk/knowledge-base/care/what-is-thrombophilia/

  Thrombophilia causes problems with blood clotting. […] Thrombophilia alters the body’s natural blood-clotting process, which is called haemostasis. […] In thrombophilia, the normal balance of chemicals in the blood is disturbed. […] Thrombophilia causes can be classified as acquired or inherited. […] Acquired thrombophilia isn’t inherited and has nothing to do with a person’s genes. […] It is also possible to have mixed thrombophilia that is caused partly by non-genetic factors and partly genetic factors. […] When you have an antithrombin deficiency, your thrombophilia is pretty severe. […] Dysfibrinogenaemia is a rare form of thrombophilia that is caused by a genetic defect. […] This syndrome is caused by antibodies named antiphospholipid antibodies. […] There are some other conditions that medics class as thrombophilia.

• #27 Hereditary thrombophilia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7233636/

  Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired conditions. […] Secondary disorders include heparin-induced thrombocytopenia, antiphospholipid antibody syndrome, neoplasia, oral contraceptive use, obesity, smoking and surgery. Primary disorders or genetic causes of thrombophilia include factor V Leiden mutation, deficiency of antithrombin III, protein C or S, histidine-rich glycoprotein deficiency and prothrombin-related thrombophilia. […] Thrombophilia has autosomal dominant, autosomal recessive, or X-linked inheritance. Pathogenic variants may be missense, nonsense, splicing or small indels. Large deletions/duplications have been reported in F5, SERPINC1, PROS1, PROC, F9, FGA, FGB.

• #28 Hypercoagulable

  https://fpnotebook.com/HemeOnc/Coags/Hyprcglbl.htm

  Causes: Primary Hypercoagulable States (Hereditary) […] Common Causes […] Factor V Leiden Defect […] Prothrombin 20210 […] Homocystinuria or Hyperhomocysteinemia […] Uncommon Causes […] Antithrombin III Deficiency […] Protein C Deficiency […] Protein S Deficiency […] Factor VIII Increased […] Fibrinolysis […] Dysfibrinogenemia […] Causes: Secondary or Acquired Hypercoagulable States […] Antiphospholipid Antibody Syndrome (most common) […] Pregnancy […] Surgery […] Trauma […] Infection or Sepsis […] Malignancy […] Cancer in idiopathic Hypercoagulability with unprovoked VTE: 3.9% (as high as 20% in some studies) […] Medications […] Estrogen sources […] Oral Contraceptives […] Estrogen Replacement Therapy […] Tamoxifen […] Hyperlipidemia […] Homocystinuria […] Lupus Inhibitor […] Nephrotic Syndrome.

• #29 What Are Genetic Causes of Thrombophilia?

  https://icliniq.com/articles/blood-health/genetic-causes-of-thrombophilia

  Reduced amounts due to genetic abnormalities may increase the risk of clotting. […] Homocysteine levels raised due to mutations in the MTHFR gene are linked to a higher risk of clot formation. […] Hemophilia B, commonly referred to as factor IX deficiency, is a hereditary form of thrombophilia in which an insufficient amount of this clotting factor can result in prolonged bleeding and a higher chance of clot formation. […] Mutations in the cystathionine beta-synthase (CBS) gene cause homocystinuria, an uncommon genetic condition characterized by elevated blood homocysteine levels. Clotting is more likely to occur in those with homocystinuria.

• #30 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Antithrombin III (AT) deficiency, defined as an AT activity level consistently less than 80%, is associated with a significantly increased risk of VTE. […] Hyperhomocysteinemia can occur by both genetic and acquired abnormality. […] The most common genetic defect resulting in hyperhomocysteinemia is a mutation of the enzyme methylenetetrahydrofolate reductase (MTHFR). […] The presence of PGM generally does not impact the decision making with regards to the duration of anticoagulation management. […] The risk of recurrence after a first episode of symptomatic venous thromboembolism provoked by a transient risk factor: A systematic review.

• #31

  https://journals.lww.com/ijhm/fulltext/2017/06020/inherited_thrombophilia__diagnostic_approach.2.aspx

  Thrombophilia causes can be divided into two types: acquired (secondary) and hereditary (primary) causes. […] Strongly supportive data are antithrombin (AT) deficiency, protein C deficiency, protein S (PS) deficiency, prothrombin G20210A, homocystinuria, activated protein C resistance (APC-R), and Factor V Leiden (FVL). […] This type of thrombophilia is divided into three types of data: […] Weakly supportive data are reduced protein Z and Z-dependent protease inhibitor (ZPI), tissue plasminogen activator (tPA) deficiency, increased plasminogen activator inhibitor (PAI-1), increased thrombin-activatable fibrinolysis inhibitor, hypoplasminogenemia and dysplasminogenemia, and hypofibrinolysis. […] Inherited severe hyperhomocysteinemia diagnosed by homocysteine plasma level 100 mol/l usually is caused by homozygous methyltetrahydrofolate reductase (MTHFR) or CBS deficiencies or rarely inherited B12 abnormal metabolism.

• #32 Thrombophilia causes – wikidoc

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

  Thrombophilia may be caused by either acquired, inherited, or, more commonly, a combination of both conditions. […] The cause of thrombosis is multifactorial which causes an imbalance in endogenous anticoagulation and hemostasis through a complex pathophysiologic mechanism. […] Hypercoagulability disorders are either acquired or inherited. However, actual thrombosis occurs due to the interplay of both genetic and environmental factors and follows the multiple hit hypothesis, thereby explaining the inter-individual differences observed in patients with inherited mutations. […] Inherited forms can be identified in up to 30% of patients with venous thromboembolism and are mainly attributable to factor V Leiden and prothrombin G2021A mutation. […] Acquired factors are far more common and influence the coagulation cascade by multitude of factors including medications (e.g., oral contraceptives, estrogen or other hormonal replacement), recent inflammatory conditions such as pregnancy, surgery, trauma, or infection, and chronic inflammatory conditions (e.g., morbid obesity, rheumatologic disease, ulcerative colitis, heavy smoking).

• #33 Thrombophilia: Causes, Symptoms, and Treatment

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

  Thrombophilias can be classified into inherited or acquired. The inherited ones are genetic and may be passed on from parent to child. […] Acquired thrombophilias are not inherited, meaning they have nothing to do with your genes. Usually, acquired thrombophilias become apparent in adulthood. They can happen as a result of other medical problems that have developed, or they might be due to problems with the immune system. […] 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. […] Therefore, negative tests do not exclude the possibility that you have an inherited increased risk of having blood clots.

• #34 What Is Thrombophilia?

  https://www.webmd.com/dvt/thrombophilia-overview

  There are two main types of thrombophilia: […] Inherited thrombophilia comes in several forms. The most common are factor V Leiden mutation, which 1 in 20 people of European descent have, and the prothrombin G20210A gene mutation or factor II mutation, which happens in 2% of the population. […] Acquired thrombophilia. This is when your liver, kidney, or another organ doesnt make or clear away clotting proteins as it should. It often happens after bed rest following a surgery or because of a major illness like cancer. Antiphospholipid antibody syndrome is the most common acquired thrombophilia. It is an autoimmune disorder that may raise your chances of having pregnancy complications and miscarriage.

• #35 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Malignancy is a well-established risk factor for the development of VTE. […] Antiphospholipid syndrome (APS) is an acquired thrombophilia characterized by the presence of antiphospholipid antibodies, including lupus anticoagulant (LAC), beta-2 glycoprotein 1 antibodies (B2GPI), and anticardiolipin antibodies, which are directed against plasma proteins bound to anionic phospholipids. […] The mechanism behind the hypercoagulability of this syndrome is multifaceted and includes inhibitions of the natural anticoagulation system, activation of procoagulant and proinflammatory effects, and activation of endothelial cells, immune cells, and the complement cascade. […] Factor V Leiden (FVL) mutation results in a point mutation in the F5 gene which encodes the factor V protein in the coagulation cascade.

• #36 Thrombophilia – Blood Clots

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

  In acquired thrombophilias, an organ responsible for producing or eliminating these proteins, such as the liver or kidney, may have been damaged or altered by a major health event. […] A prime example of an acquired thrombophilia is antiphospholipid syndrome (APS), a condition that poses particular risks for pregnant women because APS-related blood clots occur most frequently in advance of or in the weeks following childbirth. […] It can lead to miscarriage. […] Unlike most thrombophilias, APS is associated with a higher incidence of recurrent venous blood clots as well as arterial blood clots.

• #37 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Malignancy is a well-established risk factor for the development of VTE. […] Antiphospholipid syndrome (APS) is an acquired thrombophilia characterized by the presence of antiphospholipid antibodies, including lupus anticoagulant (LAC), beta-2 glycoprotein 1 antibodies (B2GPI), and anticardiolipin antibodies, which are directed against plasma proteins bound to anionic phospholipids. […] The mechanism behind the hypercoagulability of this syndrome is multifaceted and includes inhibitions of the natural anticoagulation system, activation of procoagulant and proinflammatory effects, and activation of endothelial cells, immune cells, and the complement cascade. […] Factor V Leiden (FVL) mutation results in a point mutation in the F5 gene which encodes the factor V protein in the coagulation cascade.

• #38 Secondary Hypercoagulable State: Causes, Treatment, More

  https://www.healthline.com/health/secondary-hypercoagulable-state

  A secondary hypercoagulable state is an increased risk of severe blood clotting due to an underlying nonhereditary condition or event. Common causes include cancer, pregnancy, and antiphospholipid syndrome. […] Hypercoagulation, also called thrombophilia, is a condition involving excess blood clotting. It may be hereditary, or you may acquire it during your lifetime. […] The term secondary hypercoagulable state refers to thrombophilia that can be attributed to acquired (not hereditary) issues with blood clotting. Here are some examples of health conditions and lifestyle habits that can lead to secondary hypercoagulable states: […] Cancer is one of the most common causes of secondary hypercoagulability. […] Antiphospholipid syndrome (APS) is an autoimmune disease that causes your body to attack its own blood cells, which can change clotting proteins.

• #39 Hypercoagulability – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538251/

  Malignancy is the second most common acquired hypercoagulability and leads to a prothrombotic state through the production of procoagulant factors (tissue factor and cancer procoagulant) and the interaction of tumor cells with blood and vascular endothelium. […] Trauma is another acquired hypercoagulable state. […] Other conditions associated with a hypercoagulable state include myeloproliferative disorders, multiple myeloma, paroxysmal nocturnal hemoglobinuria, heart failure.

• #40 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Given the clear association of malignancy as a risk factor for VTE, the question often arises about screening for malignancy in a patient with VTE without other identified risk factors with the goal of the earlier detection of malignancy and thus decreasing the cancer-related mortality and improving the quality of life. […] The risk of VTE is highest in the first 3 months after cancer diagnosis. […] The presence of cancer was associated with an increased risk of recurrent VTE (hazard ratio (HR) 1.72) while surgery and recent trauma or fracture were associated with a decreased risk of recurrent VTE (HR 0.36). […] A family history of VTE has also been identified as a risk factor for VTE development. […] It appears that the risk increases based on the number of family members with a prior VTE.

• #41 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Thromboembolic events take place in approximately 10 to 15% of patients with malignant neoplasms and are the second leading cause of death for these patients. The mechanisms for thrombosis in neoplasms have not yet been fully elucidated. […] Pregnancy results in a 5 to 6 fold greater risk of VTE, which is even greater puerperium (up to six weeks after birth). The risk of deep vein thrombosis (DVT) increases during pregnancy, with almost 50% of events occurring in the third trimester. […] Hormone therapy, chemotherapy, and thalidomide have been associated with VTE. The risk of VTE is greater with hormonal contraceptives that contain higher estrogen levels and for those with third generation progestins. […] Patients with nephrotic syndrome have a 10 to 40% risk of thrombosis (arterial and venous). Pathogenesis of VTE in this condition seems to stem from urinary loss of natural anticoagulants.

• #42 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  A major theory describing the pathogenesis of VTE is Virchow’s triad which consists of the stasis of blood flow, vascular endothelial injury, and hypercoagulability. With this, most identified risk factors for the development of VTE have at least one element of Virchow’s triad. […] Understanding the risk factors associated with VTE is important for understanding a patient’s risk of VTE development and recurrence, and thus guides providers on the best management strategies moving forward. Importantly, risk factors do not carry an equal risk of VTE development. […] This increased risk is likely related to cancer treatments, as several treatments, including chemotherapy, protein kinase inhibitors, antiangiogenic therapy, and immunotherapy, as well as the use of central venous catheters, have been associated with an increased risk of thrombosis.

• #43 Thrombophilia – Wikipedia

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

  Cancer, particularly when metastatic (spread to other places in the body), is a recognised risk factor for thrombosis. A number of mechanisms have been proposed, such as activation of the coagulation system by cancer cells or secretion of procoagulant substances. […] Pregnancy is associated with an increased risk of thrombosis of 2- to 7-fold. This probably results from a physiological hypercoagulability in pregnancy that protects against postpartum hemorrhage. This hypercoagulability in turn is likely related to the high levels of estradiol and progesterone that occur during pregnancy. […] Estrogens, when used in combined hormonal birth control and in menopausal hormone therapy (in combination with progestogens), have been associated with a 2- to 6-fold increased risk of venous thrombosis. The risk depends on the types of hormones used, the dose of estrogen, and the presence of other thrombophilic risk factors. […] Obesity has long been regarded as a risk factor for venous thrombosis. It more than doubles the risk in numerous studies, particularly in combination with the use of oral contraceptives or in the period after surgery.

• #44 Thrombophilia – Wikipedia

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

  Cancer, particularly when metastatic (spread to other places in the body), is a recognised risk factor for thrombosis. A number of mechanisms have been proposed, such as activation of the coagulation system by cancer cells or secretion of procoagulant substances. […] Pregnancy is associated with an increased risk of thrombosis of 2- to 7-fold. This probably results from a physiological hypercoagulability in pregnancy that protects against postpartum hemorrhage. This hypercoagulability in turn is likely related to the high levels of estradiol and progesterone that occur during pregnancy. […] Estrogens, when used in combined hormonal birth control and in menopausal hormone therapy (in combination with progestogens), have been associated with a 2- to 6-fold increased risk of venous thrombosis. The risk depends on the types of hormones used, the dose of estrogen, and the presence of other thrombophilic risk factors. […] Obesity has long been regarded as a risk factor for venous thrombosis. It more than doubles the risk in numerous studies, particularly in combination with the use of oral contraceptives or in the period after surgery.

• #45 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Thromboembolic events take place in approximately 10 to 15% of patients with malignant neoplasms and are the second leading cause of death for these patients. The mechanisms for thrombosis in neoplasms have not yet been fully elucidated. […] Pregnancy results in a 5 to 6 fold greater risk of VTE, which is even greater puerperium (up to six weeks after birth). The risk of deep vein thrombosis (DVT) increases during pregnancy, with almost 50% of events occurring in the third trimester. […] Hormone therapy, chemotherapy, and thalidomide have been associated with VTE. The risk of VTE is greater with hormonal contraceptives that contain higher estrogen levels and for those with third generation progestins. […] Patients with nephrotic syndrome have a 10 to 40% risk of thrombosis (arterial and venous). Pathogenesis of VTE in this condition seems to stem from urinary loss of natural anticoagulants.

• #46 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Thromboembolic events take place in approximately 10 to 15% of patients with malignant neoplasms and are the second leading cause of death for these patients. The mechanisms for thrombosis in neoplasms have not yet been fully elucidated. […] Pregnancy results in a 5 to 6 fold greater risk of VTE, which is even greater puerperium (up to six weeks after birth). The risk of deep vein thrombosis (DVT) increases during pregnancy, with almost 50% of events occurring in the third trimester. […] Hormone therapy, chemotherapy, and thalidomide have been associated with VTE. The risk of VTE is greater with hormonal contraceptives that contain higher estrogen levels and for those with third generation progestins. […] Patients with nephrotic syndrome have a 10 to 40% risk of thrombosis (arterial and venous). Pathogenesis of VTE in this condition seems to stem from urinary loss of natural anticoagulants.

• #47 Thrombophilia – Wikipedia

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

  Cancer, particularly when metastatic (spread to other places in the body), is a recognised risk factor for thrombosis. A number of mechanisms have been proposed, such as activation of the coagulation system by cancer cells or secretion of procoagulant substances. […] Pregnancy is associated with an increased risk of thrombosis of 2- to 7-fold. This probably results from a physiological hypercoagulability in pregnancy that protects against postpartum hemorrhage. This hypercoagulability in turn is likely related to the high levels of estradiol and progesterone that occur during pregnancy. […] Estrogens, when used in combined hormonal birth control and in menopausal hormone therapy (in combination with progestogens), have been associated with a 2- to 6-fold increased risk of venous thrombosis. The risk depends on the types of hormones used, the dose of estrogen, and the presence of other thrombophilic risk factors. […] Obesity has long been regarded as a risk factor for venous thrombosis. It more than doubles the risk in numerous studies, particularly in combination with the use of oral contraceptives or in the period after surgery.

• #48 Thrombophilia – Wikipedia

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

  Cancer, particularly when metastatic (spread to other places in the body), is a recognised risk factor for thrombosis. A number of mechanisms have been proposed, such as activation of the coagulation system by cancer cells or secretion of procoagulant substances. […] Pregnancy is associated with an increased risk of thrombosis of 2- to 7-fold. This probably results from a physiological hypercoagulability in pregnancy that protects against postpartum hemorrhage. This hypercoagulability in turn is likely related to the high levels of estradiol and progesterone that occur during pregnancy. […] Estrogens, when used in combined hormonal birth control and in menopausal hormone therapy (in combination with progestogens), have been associated with a 2- to 6-fold increased risk of venous thrombosis. The risk depends on the types of hormones used, the dose of estrogen, and the presence of other thrombophilic risk factors. […] Obesity has long been regarded as a risk factor for venous thrombosis. It more than doubles the risk in numerous studies, particularly in combination with the use of oral contraceptives or in the period after surgery.

• #49 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Similar to a personal history of VTE, a family history of VTE has also been identified as a risk factor for VTE development. […] These findings underscore that there are likely other inherited thrombophilias present that have yet to be discovered. […] Prolonged periods of immobility, such as postoperative bed rest, paralysis, hospitalization, or long-haul travel, are well-established risk factors for VTE. […] Immobility leads to venous stasis, particularly in the legs, which promotes thrombosis. […] Surgical procedures have long been associated with an increased risk of VTE, as surgery can result in damage to blood vessels, activation of the coagulation cascade, and venous stasis due to immobility, both during the surgery and in the post-operative period. […] Not all surgery carries the same risk of VTE, with thrombotic risk being the highest amongst orthopedic, major vascular, neurosurgery, and cancer surgery.

• #50 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Similar to a personal history of VTE, a family history of VTE has also been identified as a risk factor for VTE development. […] These findings underscore that there are likely other inherited thrombophilias present that have yet to be discovered. […] Prolonged periods of immobility, such as postoperative bed rest, paralysis, hospitalization, or long-haul travel, are well-established risk factors for VTE. […] Immobility leads to venous stasis, particularly in the legs, which promotes thrombosis. […] Surgical procedures have long been associated with an increased risk of VTE, as surgery can result in damage to blood vessels, activation of the coagulation cascade, and venous stasis due to immobility, both during the surgery and in the post-operative period. […] Not all surgery carries the same risk of VTE, with thrombotic risk being the highest amongst orthopedic, major vascular, neurosurgery, and cancer surgery.

• #51 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Similar to a personal history of VTE, a family history of VTE has also been identified as a risk factor for VTE development. […] These findings underscore that there are likely other inherited thrombophilias present that have yet to be discovered. […] Prolonged periods of immobility, such as postoperative bed rest, paralysis, hospitalization, or long-haul travel, are well-established risk factors for VTE. […] Immobility leads to venous stasis, particularly in the legs, which promotes thrombosis. […] Surgical procedures have long been associated with an increased risk of VTE, as surgery can result in damage to blood vessels, activation of the coagulation cascade, and venous stasis due to immobility, both during the surgery and in the post-operative period. […] Not all surgery carries the same risk of VTE, with thrombotic risk being the highest amongst orthopedic, major vascular, neurosurgery, and cancer surgery.

• #52 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  Similar to a personal history of VTE, a family history of VTE has also been identified as a risk factor for VTE development. […] These findings underscore that there are likely other inherited thrombophilias present that have yet to be discovered. […] Prolonged periods of immobility, such as postoperative bed rest, paralysis, hospitalization, or long-haul travel, are well-established risk factors for VTE. […] Immobility leads to venous stasis, particularly in the legs, which promotes thrombosis. […] Surgical procedures have long been associated with an increased risk of VTE, as surgery can result in damage to blood vessels, activation of the coagulation cascade, and venous stasis due to immobility, both during the surgery and in the post-operative period. […] Not all surgery carries the same risk of VTE, with thrombotic risk being the highest amongst orthopedic, major vascular, neurosurgery, and cancer surgery.

• #53 Thrombophilia – Wikipedia

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

  Cancer, particularly when metastatic (spread to other places in the body), is a recognised risk factor for thrombosis. A number of mechanisms have been proposed, such as activation of the coagulation system by cancer cells or secretion of procoagulant substances. […] Pregnancy is associated with an increased risk of thrombosis of 2- to 7-fold. This probably results from a physiological hypercoagulability in pregnancy that protects against postpartum hemorrhage. This hypercoagulability in turn is likely related to the high levels of estradiol and progesterone that occur during pregnancy. […] Estrogens, when used in combined hormonal birth control and in menopausal hormone therapy (in combination with progestogens), have been associated with a 2- to 6-fold increased risk of venous thrombosis. The risk depends on the types of hormones used, the dose of estrogen, and the presence of other thrombophilic risk factors. […] Obesity has long been regarded as a risk factor for venous thrombosis. It more than doubles the risk in numerous studies, particularly in combination with the use of oral contraceptives or in the period after surgery.

• #54 Secondary Hypercoagulable State: Causes, Treatment, More

  https://www.healthline.com/health/secondary-hypercoagulable-state

  Research suggests a link between thrombophilia and certain viral infections, including COVID-19, due to high levels of acute inflammation. […] A secondary hypercoagulable state (acquired thrombophilia) develops as a result of health conditions or other risk factors that may increase your chances of excessive blood clotting.

• #55 Secondary Hypercoagulable State: Causes, Treatment, More

  https://www.healthline.com/health/secondary-hypercoagulable-state

  A secondary hypercoagulable state is an increased risk of severe blood clotting due to an underlying nonhereditary condition or event. Common causes include cancer, pregnancy, and antiphospholipid syndrome. […] Hypercoagulation, also called thrombophilia, is a condition involving excess blood clotting. It may be hereditary, or you may acquire it during your lifetime. […] The term secondary hypercoagulable state refers to thrombophilia that can be attributed to acquired (not hereditary) issues with blood clotting. Here are some examples of health conditions and lifestyle habits that can lead to secondary hypercoagulable states: […] Cancer is one of the most common causes of secondary hypercoagulability. […] Antiphospholipid syndrome (APS) is an autoimmune disease that causes your body to attack its own blood cells, which can change clotting proteins.

• #56 Hypercoagulability – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538251/

  Malignancy is the second most common acquired hypercoagulability and leads to a prothrombotic state through the production of procoagulant factors (tissue factor and cancer procoagulant) and the interaction of tumor cells with blood and vascular endothelium. […] Trauma is another acquired hypercoagulable state. […] Other conditions associated with a hypercoagulable state include myeloproliferative disorders, multiple myeloma, paroxysmal nocturnal hemoglobinuria, heart failure.

• #57 Blood Clotting Disorders: Types, Signs and Treatment

  https://my.clevelandclinic.org/health/diseases/16788-blood-clotting-disorders-hypercoagulable-states

  Acquired blood clotting disorders include: Antiphospholipid syndrome (APS), Disseminated intravascular coagulation (DIC). […] Causes of acquired blood clotting disorders include: Cancer (one of the most common causes), Some medications that treat cancer, Recent trauma or surgery, Central venous catheter placement, Obesity, Pregnancy, Supplemental estrogen use, including oral contraceptive pills (birth control pills), Hormone replacement therapy, Not moving your body for a long time because of bed rest or long plane rides, Heart attack, congestive heart failure, stroke and other illnesses that lead to decreased activity, Heparin-induced thrombocytopenia (decreased platelets in your blood from heparin or low molecular weight heparin preparations), Autoimmune disorders, Antiphospholipid antibody syndrome, Previous history of deep vein thrombosis or pulmonary embolism, Myeloproliferative disorders such as polycythemia vera or essential thrombocytosis, Paroxysmal nocturnal hemoglobinuria, Inflammatory bowel syndrome, Not having enough folate or other B vitamins, HIV, sepsis or other infections, Nephrotic syndrome (too much protein in your pee).

• #58 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Thromboembolic events take place in approximately 10 to 15% of patients with malignant neoplasms and are the second leading cause of death for these patients. The mechanisms for thrombosis in neoplasms have not yet been fully elucidated. […] Pregnancy results in a 5 to 6 fold greater risk of VTE, which is even greater puerperium (up to six weeks after birth). The risk of deep vein thrombosis (DVT) increases during pregnancy, with almost 50% of events occurring in the third trimester. […] Hormone therapy, chemotherapy, and thalidomide have been associated with VTE. The risk of VTE is greater with hormonal contraceptives that contain higher estrogen levels and for those with third generation progestins. […] Patients with nephrotic syndrome have a 10 to 40% risk of thrombosis (arterial and venous). Pathogenesis of VTE in this condition seems to stem from urinary loss of natural anticoagulants.

• #59 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Crohn’s disease and ulcerative colitis are associated with an increase in the risk for VTE. In a retrospective study, the risk of VTE in patients with inflammatory bowel disease was three times greater than in those without IBD. […] Resistance to activated protein C in the absence of the mutation in factor V Leiden is an independent risk factor for VTE. […] Cryoglobulinemia is a condition due to the presence of cryoglobulins. Cryoglobulins consist of a group of proteins that precipitate at temperatures below 37C and resolubilize after the blood is heated above 37C. […] By favoring the formation of intravascular thrombi, thrombophilia can provoke or contribute to the development of skin necrosis. There are various diseases of dermatological interest that lead one to suspect the existence of hypercoagulation, such as extensive skin necroses, fulminating post-infective or septic purpura, necrotizing cellulitis, antiphospholipid syndrome, skin necrosis due to oral anticoagulants or the use of low molecular weight heparins, ulcers of the lower limbs, and livedoid vasculopathy. […] The occurrence and exact etiopathogenic role of thrombophilias in the origin of ulcers of the lower limbs remains to be established.

• #60 Blood Clotting Disorders: Types, Signs and Treatment

  https://my.clevelandclinic.org/health/diseases/16788-blood-clotting-disorders-hypercoagulable-states

  Acquired blood clotting disorders include: Antiphospholipid syndrome (APS), Disseminated intravascular coagulation (DIC). […] Causes of acquired blood clotting disorders include: Cancer (one of the most common causes), Some medications that treat cancer, Recent trauma or surgery, Central venous catheter placement, Obesity, Pregnancy, Supplemental estrogen use, including oral contraceptive pills (birth control pills), Hormone replacement therapy, Not moving your body for a long time because of bed rest or long plane rides, Heart attack, congestive heart failure, stroke and other illnesses that lead to decreased activity, Heparin-induced thrombocytopenia (decreased platelets in your blood from heparin or low molecular weight heparin preparations), Autoimmune disorders, Antiphospholipid antibody syndrome, Previous history of deep vein thrombosis or pulmonary embolism, Myeloproliferative disorders such as polycythemia vera or essential thrombocytosis, Paroxysmal nocturnal hemoglobinuria, Inflammatory bowel syndrome, Not having enough folate or other B vitamins, HIV, sepsis or other infections, Nephrotic syndrome (too much protein in your pee).

• #61 Excessive Clotting – Blood Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/blood-disorders/excessive-clotting/excessive-clotting

  Excessive clotting (thrombophilia) occurs when the blood clots too easily or excessively. […] Inherited and acquired disorders can increase blood clotting. […] Most disorders that cause thrombophilia increase the risk of blood clot formation in veins. A few increase the risk of clot formation in both arteries and veins. […] Some of the disorders that cause thrombophilia are inherited. Many of these result from changes in the amount or function of certain proteins in the blood that control clotting. […] Other disorders that cause thrombophilia are acquired after birth. […] Hyperhomocysteinemia (an abnormal elevation of homocysteine, most often caused by deficiencies of vitamin B6, vitamin B12, or folate) is a possible cause of thrombophilia. […] Other factors may increase the risk of clotting along with thrombophilia.

• #62 Secondary Hypercoagulable State: Causes, Treatment, More

  https://www.healthline.com/health/secondary-hypercoagulable-state

  In some cases, people who are pregnant may be at a higher risk of thrombophilia. […] High blood cholesterol can lead to the development of plaque in your blood vessels. […] A 2020 study suggests a link between obesity and a higher risk of blood clots due to increased levels of inflammation and possibly lower levels of physical activity. […] Diabetes may affect blood platelets and their ability to function in regular clotting. […] Damage to your liver or kidneys may hinder your ability to produce adequate amounts of clotting proteins. […] Recent surgery or hospitalization may lead to blood clots as a result of long-term bed rest, vein damage during surgery, or catheter placement. […] Certain estrogen-containing medications, such as birth control pills and hormone replacement therapy, may cause an excess of thrombin proteins in your blood, increasing the risk of a secondary hypercoagulable state.

• #63 BLEEDING DISORDERS AND THROMBOPHILIA (Chapter 40) – Uncommon Causes of Stroke

  https://www.cambridge.org/core/books/uncommon-causes-of-stroke/bleeding-disorders-and-thrombophilia/8C33B3F849B2AE6543476B6003B426DD

  This chapter focuses on the various etiologies for intracerebral hemorrhage (CH), ischemic stroke (IS), transient ischemic attack (TIA), and cerebral venous sinus thrombosis (CVST) that are caused by blood disorders. […] Bleeding disorders may be inherited or acquired. […] Blood disorders associated with myeloproliferative diseases and disseminated intravascular coagulation (DIC) can cause both bleeding and thrombosis. […] Heparin-induced thrombocytopenia (HIT), the anti-phospholipid antibody syndrome, and thrombotic thrombocytopenic purpura (TTP) are conditions that cause thrombocytopenia but are more frequently responsible for thrombosis than for bleeding. […] Cytoreduction with hydroxyurea reduces the incidence of thrombosis in essential thrombocythemia, and aspirin reduces the incidence of thrombotic events in polycythemia vera.

• #64 BLEEDING DISORDERS AND THROMBOPHILIA (Chapter 40) – Uncommon Causes of Stroke

  https://www.cambridge.org/core/books/uncommon-causes-of-stroke/bleeding-disorders-and-thrombophilia/8C33B3F849B2AE6543476B6003B426DD

  This chapter focuses on the various etiologies for intracerebral hemorrhage (CH), ischemic stroke (IS), transient ischemic attack (TIA), and cerebral venous sinus thrombosis (CVST) that are caused by blood disorders. […] Bleeding disorders may be inherited or acquired. […] Blood disorders associated with myeloproliferative diseases and disseminated intravascular coagulation (DIC) can cause both bleeding and thrombosis. […] Heparin-induced thrombocytopenia (HIT), the anti-phospholipid antibody syndrome, and thrombotic thrombocytopenic purpura (TTP) are conditions that cause thrombocytopenia but are more frequently responsible for thrombosis than for bleeding. […] Cytoreduction with hydroxyurea reduces the incidence of thrombosis in essential thrombocythemia, and aspirin reduces the incidence of thrombotic events in polycythemia vera.

• #65 Hereditary and Acquired Hypercoagulability: Practice Essentials, COVID-19, Pathophysiology

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

  Such deficiencies may be hereditary or acquired. […] Individuals with a mutant prothrombin (variously termed prothrombin G20210A, prothrombin G2010A, and mutant factor II) generate excess prothrombin that is associated with hypercoagulability. […] Non-O blood type is associated with an approximately two-fold increase in risk for venous thrombembolism. […] An inherited thrombophilic condition in association with non-O blood type further increases risk. […] In addition to thrombophilias resulting from individual mutations, an inherited susceptibility to venous thromboembolism may result from multigenic action. […] The risk for thrombosis increases with age and associated immobility.

• #66 Thrombophilia (Hypercoagulable States) – Warde Medical Laboratory

  https://wardelab.com/warde-reports/thrombophilia-hypercoagulable-states/

  In 1856, Rudolf Virchow, a German pathologist, proposed a hypothesis to explain the pathogenesis of thrombosis. He suggested there were three primary causes of venous and arterial thrombosis: stasis, injury to the vessel wall and abnormalities in the circulating blood. […] Thrombophilia may be defined as hereditary or acquired conditions which predispose individuals to thromboembolic events. […] Following Egberg’s publication, additional hereditary causes of thrombophilia were identified in the 1980s including protein C and protein S deficiencies. […] Deficiencies of these proteins result in an increased generation of thrombin and a predisposition to thrombosis. […] The identification of FVL significantly changed the way clinicians and laboratories approach the diagnosis of thrombophilia.

• #67 A Comprehensive Review of Risk Factors and Thrombophilia Evaluation in Venous Thromboembolism

  https://www.mdpi.com/2077-0383/13/2/362

  A major theory describing the pathogenesis of VTE is Virchow’s triad which consists of the stasis of blood flow, vascular endothelial injury, and hypercoagulability. With this, most identified risk factors for the development of VTE have at least one element of Virchow’s triad. […] Understanding the risk factors associated with VTE is important for understanding a patient’s risk of VTE development and recurrence, and thus guides providers on the best management strategies moving forward. Importantly, risk factors do not carry an equal risk of VTE development. […] This increased risk is likely related to cancer treatments, as several treatments, including chemotherapy, protein kinase inhibitors, antiangiogenic therapy, and immunotherapy, as well as the use of central venous catheters, have been associated with an increased risk of thrombosis.

• #68 Thrombophilia and Hypercoagulable States | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688839/all/Thrombophilia_and_Hypercoagulable_States

  An inherited or acquired disorder of the coagulation system predisposing an individual to thromboembolism (the formation of a venous, or less commonly, an arterial blood clot) […] VTE is considered to be the result of inherited tendencies with other acquired risks. […] Virchow triad as a cause of VTE includes venous stasis, vascular endothelial injury, and abnormalities in circulating blood constituents. […] An imbalance between the hemostatic and fibrinolytic pathways leads to thrombus formation.

• #69 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 mechanism of thrombosis in most cases of congenital thrombophilia is the inability to inactivate thrombin or in the failure to control the production of thrombin. […] The presence of lupus anticoagulant is severe and can cause fetal bradycardia around the 25th week of pregnancy and atrioventricular blockages. […] The mechanism in the abovementioned syndrome is not precisely specified. Potential microtubule mechanisms are included, including autoantibody failure to implant or develop embryo-fetal circulation. […] Hyperhomocysteinemia is characterized by elevated fasting plasma homocysteine ( 100 mol/L in severe cases). […] Consequently, hyperhomocysteinemia is a common and easily treatable cause of arterial and venous thrombosis. […] The most common mutation associated with thrombophilia in Greece is MTHFR C677T (35%), whereas FV-Leiden and prothrombin G20210A have an incidence of about 2%.

• #70 Thrombophilia: Symptoms & Treatment

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

  Thrombophilia is a blood disorder that makes the blood in your veins and arteries more likely to clot. Healthcare providers call this a hypercoagulable condition because your blood coagulates or clots more easily. Thrombophilia can be an inherited (genetic) or acquired tendency to form blood clots in arteries and veins. […] In addition to a genetic problem with a protein your body uses for clotting, causes of thrombophilia include other medical issues, like: Antiphospholipid syndrome, Disseminated intravascular coagulation (DIC), a rare blood clotting disorder, Hepatitis, HIV, Liver disease. […] Thrombophilia risk factors include: Having overweight, Being pregnant, Using tobacco products, Having atherosclerosis, cancer, diabetes, HIV or certain heart problems, Not moving your body for a long period of time, Having surgery or being in the hospital, Taking birth control pills containing estrogen, Taking hormone replacement therapy containing estrogen, Having a family history of blood clots, Being an older adult, Having unexplained miscarriages, Having more than one blood clot by age 40.

• #71 Thrombophilia: Symptoms and Treatment | Doctor

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

  Thrombophilia may be heritable, acquired or mixed. […] Heritable thrombophilias can be identified in 30-50% of VTE. Factor V Leiden, prothrombin 20210GA, and deficiencies of antithrombin, protein C and protein S increase the risk of a first VTE. […] However, an individual’s risk is determined by a combination of genetic, acquired and circumstantial risk factors. […] At least 50% of VTE events in thrombophilic individuals are provoked by predisposing factors such as immobility, surgery, trauma, cancer, hormonal therapy and pregnancy. […] Non-modifiable risk factors such as advancing age and family history also increase thrombotic risk. […] Factor V Leiden is the most common heritable thrombophilia in Caucasian populations. […] Individuals may have more than one inherited thrombophilia genotype, particularly in populations where the factor V Leiden and prothrombin 20210A alleles are common. Combined thrombophilias can multiply the VTE risk.

• #72 What Is Excessive Blood Clotting (Hypercoagulation)? | American Heart Association

  https://www.heart.org/en/health-topics/venous-thromboembolism/what-is-excessive-blood-clotting-hypercoagulation

  Many factors can cause excessive blood clotting including certain diseases and conditions, genetic mutations and medicines. These causes fall into two categories: acquired and genetic. […] The genetic, or inherited, source of excessive blood clotting is less common and is usually due to genetic defects. These defects usually occur in the proteins needed for blood clotting and can also occur with the substances that delay or dissolve blood clots. […] Acquired and genetic sources of excessive blood clotting are not related but a person can have both. […] Some other names for excessive blood clotting are: Thrombophilia (a name used mainly for genetic conditions).

• #73 Hypercoagulable states – Knowledge @ AMBOSS

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

  A hypercoagulable state, i.e., thrombophilia, is a predisposition to forming blood clots. […] The development of thromboembolic disease is multifactorial and more commonly triggered by traditional risk factors than by inherited or acquired thrombophilia. […] A single patient may have multiple underlying conditions or risk factors (both hereditary and acquired) which can lead to a higher cumulative risk of thromboembolism. […] Hereditary thrombophilias: typically caused by mutations of proteins and enzymes involved in the coagulation cascade. […] Acquired thrombophilias: varying underlying mechanisms that include stasis, endothelial injury, changes in elements of the coagulation cascade, as well as the formation, release, or exposure to additional procoagulant substances.

• #74 Thrombophilia | Bruker

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

  The combination of Factor V and Factor II mutation means that serious thrombosis can occur at a young age or the risk of recurrent thrombosis is also significantly increased. […] An increase in plasminogen activator inhibitor type 1 (PAI-1) levels is also considered a risk factor for venous and arterial thrombosis. […] A determination of the hereditary risk factors should be carried out, among other things, if thromboses already occur at a young age or if they are particularly severe. […] Most patients who suffer from thrombophilia do have more than one genetic predisposition. A 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.

• #75 Thrombophilia: the dermatological clinical spectrum

  https://oatext.com/Thrombophilia-the-dermatological-clinical-spectrum.php

  Inherited deficiencies in antithrombin (AT), protein C (PC), and its co-factor protein S (PS) were the first identified causes of thrombophilia. Over the last decade, two common genetic polymorphisms were recognized as causes of hypercoagulability: mutant factor V and factor V G1691A (factor V Leiden), which make factor V resistant to the anticoagulant action of protein C, and mutation of the prothrombin gene (prothrombin G20210A), which is associated with an increase in circulating levels of prothrombin. […] The risk of a first thrombotic event increases in the presence of combined genetic defects. The combination of moderate hyper-homocysteinemia and factor V Leiden or mutation of the prothrombin gene increases the risk of venous thromboembolism (VTE) 20 to 50 times. […] Antiphospholipid antibody syndrome (AAS) is an auto-immune acquired thrombophilia characterized by the presence of antiphospholipid antibodies, thrombotic disorders, and/or recurring loss of fetuses.

• #76 Hereditary and Acquired Hypercoagulability: Practice Essentials, COVID-19, Pathophysiology

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

  Such deficiencies may be hereditary or acquired. […] Individuals with a mutant prothrombin (variously termed prothrombin G20210A, prothrombin G2010A, and mutant factor II) generate excess prothrombin that is associated with hypercoagulability. […] Non-O blood type is associated with an approximately two-fold increase in risk for venous thrombembolism. […] An inherited thrombophilic condition in association with non-O blood type further increases risk. […] In addition to thrombophilias resulting from individual mutations, an inherited susceptibility to venous thromboembolism may result from multigenic action. […] The risk for thrombosis increases with age and associated immobility.

• #77 Thrombophilia: Symptoms & Treatment

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

  Blood clots can travel all over your body, limiting or blocking blood flow to your organs. This can cause serious problems in your: Lungs (pulmonary embolism), Heart (heart attack), Brain (stroke), Kidneys (kidney failure), Leg or arm veins (deep vein thrombosis or DVT), Leg and pelvis arteries (peripheral artery disease or PAD), Developing fetus (miscarriage). […] Although you cant cure the kind of thrombophilia that you inherit, you can treat it. […] Thrombophilia treatment for acquired or inherited types of the condition may include compression stockings for your legs or medicine to prevent or break up a blood clot. Some people may need surgery to remove a blood clot. […] You cant prevent thrombophilia that you got from your parents, but you may be able to prevent some acquired thrombophilias.

• #78 Thrombophilia: Symptoms & Treatment

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

  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. […] Nearly 90% of people who have thrombophilia never get a blood clot, but some people get one or more serious clots. […] If you inherited thrombophilia, youll have it for life. Other kinds of thrombophilia can improve when you treat the condition that caused it.

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