Management of thrombophilia university of wisconsin. 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. Thrombotic events during infancy and childhood are increasingly recognized as a significant source of mortality and morbidity. Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives.
Thrombophilia may rarely present as purpura fulminans e. Laboratory assays to detect thrombophilic states include highly sensitive and specific tests like molecular diagnosis, immunologic and functional assays. Thrombophilia is much more common in women than in men. Perhaps there is survival advantage to women to have thrombophilia. Patients on low molecular weight heparin may be tested dependant on the coagulation screen results. Most important hypercoagulable conditions, testing procedures, duration of a slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising.
Guidance for the evaluation and treatment of hereditary and. Thrombophilia overview thrombophilia product series. Laboratory costs of thrombophilia testing exceed an estimated. There is no evidence that the presence of inherited thrombophilia should lead to different secondary prevention, and. This will only be perfomed if the request meets the current selection critera in the trust guidelines. Namely, besides those welldefined hereditary and acquired thrombophilic risk factors, which. A thrombophilia screen can be requested for patients with unexplained vte see indications below. This inherited condition increases your risk for deep vein thrombosis, dvt. Fortyfour patients with a dvt were seen and 2744 61. Routine thrombophilia testing is controversial because of the low yield of positive tests, costs involved, and debate about the clinical usefulness of the data obtained from testing. Superficial vein thrombosis in nonvaricose veins of the lower limbs. When to collect thrombophilia specimens the fritsma factor.
The role of thrombophilia testing in arterial thrombosis and for. Heterozygous factor v leiden, heterozygous prothrombin 20210a prior to surgery is not cost effective. People with factor v leiden thrombophilia have a higher than average risk of developing a type. Thrombophilia means that blood has an increased tendency to form clots. Sep 12, 2006 thrombophilia can be defined as a predisposition to form clots inappropriately. For example, the lifetime risk for vt associated with factor v. Thrombophilia is a term that refers to several specific abnormalities that result in an increased tendency toward hemocoagulation, which increases the risk of venous thromboembolic disease. Such abnormalities can be identified in 50% of people who have an episode of thrombosis such as deep vein thrombosis in the leg that was not provoked by other causes. Most clinical studies have failed to show a consistent association between thrombophilia and myocardial infarction or stroke. Mar 27, 2006 thrombophilia testing in symptomatic people case finding patients who have had a venous thrombosis have a high prevalence of inherited thrombophilic disorders table 2 2. Testing for inherited thrombophilia in recurrent miscarriage. Use a selective strategy that focuses on the highest yield thrombophilia testing first. Thrombophilia profile test in mumbai, mumbai thrombophilia. Other factors, such as the degree of postthrombotic symptoms, d dimer levels.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. The intensity and duration of anticoagulation following a diagnosis of vte is most often initially determined in secondary care, but it is usually the same in patients with or without an inherited thrombophilia. The usefulness or lack of it of thrombophilia testing in women. A person lacking a specific clotting factor can be supplemented with that specific factor. The currently established inherited thrombophilias impact either the procoagulant or anticoagulant pathways.
Magnitude of potentially inappropriate thrombophilia testing in the. Guidelines for testing for heritable thrombophilia specimen. Thrombophilia evaluations are usually performed to assess the need to extend anticoagulation, hence testing should be performed in a steady state, remote from the acute event. Thrombophilia is a condition where the blood has an increased tendency to form clots. The prothrombin gene mutation, deficiencies in protein s, protein c, and antithrombin account for most of the remaining cases, while rare causes include certain dysfibrinogenemias. British journal of haematology volume 149, issue 2, pages 209220, april 2010. Thrombophilia testing is not recommended in the acute phase of a thrombotic event, or in patients on anticoagulant treatment. The usefulness or lack of it of thrombophilia testing in. Thrombophilia profile test for disorders of coagulation dr. Thrombophilia testing in symptomatic people case finding patients who have had a venous thrombosis have a high prevalence of inherited thrombophilic disorders table 2 2. Thrombophilia thrombophilia factor v leiden and prothrombin mutation factor v leiden and the prothrombin mutation are among the most important parameters in thrombophilia screening.
Also, some persons with thrombophilia do not experience a throm botic event if an additional triggering transient risk factor is not present. Thrombophilias are hypercoagulable conditions that can be acquired or inherited. Dec 16, 2011 thrombophilias are hypercoagulable conditions that can be acquired or inherited. Patients with venous thromboembolism can be categorized according to the presence of environmental acquired or heritable risk factors. All patient data was deidentified and anonymized prior to analysis. Feb 12, 2016 tips for thrombophilia testing follow a stepwise strategy for thrombophilia testing that considers.
Whole blood acd solution a or mouthwash testing by realtime pcr 1263 thrombophilia panel 1264 factor ii f2 20210 ga 1265 factor v leiden f5 1601 ga 1266 mthfr mutations mthfr 677 ct, mthfr 1298 ac clinical history. Download free acrobat reader dc software the only pdf viewer that lets you read search print and interact with virtually any type of pdf file. Thrombophilia can be defined as a predisposition to form clots inappropriately. Screening for thrombophilia in patients who have had a previous vte would be of value if the event was unprovoked, if. Factor v leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. Examples of a vte etiology unrelated to hereditary thrombophilia may include trauma or cancer only when the condition is the known cause of the members thrombophilia or thrombosis. Thrombophilia thrombophilia posted 32305 key points mutations in several different genes are associated with an increased risk for venous thrombosis vt. Positive tests for dicicf can also occur as consequences of thrombosis. Thrombophilia testing to order panel components individually, select tests beneath the panel. Thrombophilia testing in patients with venous thrombosis. In factor v leiden, a point mutation causes an amino acid exchange of arginine versus glutamine at position 506 in the. Thrombophilia tests were performed in 35% of cases and in 30% of controls. Prolonged exposure of endothelial cells to homocysteine impairs edrf homocysteine stimulated the proliferation of smooth muscle cells atherogenesis homocysteine decreases thrombomodulin expression and activity decreased activation of protein c homocysteine inhibits the atiii binding activity of.
Situations in which thrombophilia testing may be appropriate include. The heritable states are of limited clinical significance in primary care and while they may underlie a patients presentation with deep venous thrombosis dvt or pulmonary embolism pe of uncertain cause, tests infrequently alter management. Youre more likely to develop a blood clot in one of the large veins in your leg deep vein thrombosis or a pulmonary embolism, where the blood clot breaks off, travels in the circulation and lodges in the arteries supplying the lungs how thrombophilia affects blood clotting. Prothrombin thrombophilia genetics home reference nih. Thrombophilia, clinical factors, and recurrent venous. Testing for heritable thrombophilia is not indicated in patients with arterial thrombosis 1b. Three general categories of test methodology are useful in the assessment of congenital thrombotic conditions. Screening for thrombophilia in asymptomatic patients with a family history of low risk thrombophilia e. The leiden thrombophilia study lets was conducted from 1988 through 1992 and patients were followed up through 2000. Heritable thrombophilia describes an inherited tendency to develop venous thrombosis. Thrombophilia screening blood sciences test exeter. Laboratory assays to detect thrombophilic states include highly. Genetic conditions associated with thrombophilia are listed below in order of their relative frequency of occurrence. Deep vein thrombosis dvt and pulmonary embolism pe are two manifestations of venous thromboembolism vte, an underdiagnosed, serious, and sometimespreventable medical condition that occurs when a blood clot forms in a deep vein dvt and subsequently breaks up and travels to the lungs pe.
Antithrombin, protein c and protein s are key players in the regulation of coagulation, hence they are referred to as natural anticoagulants. Main outcome measures recurrent thrombotic event based on thrombophilic risk factors, sex, type of initial thrombotic event idiopathic or provoked, oral contraceptive use, elevated levels of factors viii, ix, xi, fibrinogen. A thrombophilia screen consists of pt, ptt, fibrinogen, antithrombin, protein c, protein s, lupus anticoagulant, factor v leiden and prothrombin g20210a mutations. Inherited thrombophilia denotes several genetic risk factors that predispose individuals to developing venous thromboembolism. Thrombophilia may also present as recurrent fetal loss and. Some people with thrombophilia have no problems, whereas others may need to take medication to prevent or treat blood clots.
Although numerous studies have investigated the association between thrombophilia and arterial cardiovascular diseases, positive and negative studies are equally available. Prothrombin thrombophilia is an inherited disorder of blood clotting. The appropriateness and cost of thrombophilia panel testing. Individuals who have inherited a pathogenic variant in one of these genes have a predisposition to excessive blood clot formation, most often in the legs deep vein thrombosis. A simplified scheme of coagulation and fibrinolysis is depicted in the fig. Thrombophilia sometimes hypercoagulability or a prothrombotic state is an abnormality of blood coagulation that increases the risk of thrombosis blood clots in blood vessels. The patient needed to take blood thinners to prevent clots from thrombophilia. Hereditary thrombophilia thrombosis journal full text. This algorithm provides firstline and secondline testing strategies for the differential diagnosis of thrombophilia.
Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. The role of thrombophilia testing in general practice. There are many different causes, some of which are hereditary. Testing algorithm for the diagnosis of thrombophilia in individuals with a history of thrombosis or those at high risk subject. A variety of thrombophilias are risk factor for a first vte. Thrombophilia, recurrent miscarriage and infertility. Specific genetic defects should be suspected when a thrombotic event has any of the following characteristics. Thrombophilia screens will not be processed on patients on mucosal heparin, as heparin interferes with all of the coagulation based assays of a thrombophilia screen and can cause reduced antithrombin. Factor v leiden thrombophilia is an inherited disorder of blood clotting. Dec 02, 2016 the actual risk to an individual depends not only on the thrombophilia but on other unidentifiable factors, even in family members with the same thrombophilia genotype. The results of thrombophilia testing for these same categories are seen in tables iii, iv, and v.
Thrombophilia definition of thrombophilia by the free. Thrombophilia profile test for disorders of coagulation. The lifetime risk for vt associated with the most common mutations is modest. Deep vein thrombosis dvt and pulmonary embolism pe are two manifestations of venous thromboembolism vte, an underdiagnosed, serious, and sometimespreventable medical condition that occurs when a blood clot forms in a deep vein dvt and subsequently breaks. Youre more likely to develop a blood clot in one of the large veins in your leg deep vein thrombosis or a pulmonary embolism, where the blood clot breaks off, travels in the circulation and lodges in the arteries supplying the lungs. Pdf in this issue of blood, lijfering and colleagues provide data on the absolute risk for both initial and recurrent venous thromboses in persons.
Factor v leiden thrombophilia genetics home reference nih. Laboratory investigations are rarely done for those with superficial venous thrombosis svt or. Diagnosis and management of heritable thrombophilias. Tips for thrombophilia testing follow a stepwise strategy for thrombophilia testing that considers. Thrombophilia testing michael b streiff, md facp associate professor of medicine medical director, johns hopkins anticoagulation service sidney kimmel comprehensive cancer center at johns hopkins. Pdf testing for inherited thrombophilia in recurrent. The plan operates in massachusetts under the trade name boston medical center healthnet plan and in other states under the trade name well sense health plan. Thrombophilia anticoagulation centers of excellence. Feb 23, 2011 thrombophilia testing for other clinical indications. The result informs the physician which type of thrombophilia is present. It is suggested that testing for heritable thrombophilia is not indicated in children with stroke 2c.
The role of thrombophilia testing in general practice best. The invitae hereditary thrombophilia panel analyzes five genes that are associated with an increased risk for developing thromboembolism. Therefore, if a firstdegree relative has a history of vte, advise alternative contraception or transdermal hrt, if hrt is required. Dec 15, 2016 the appropriateness and cost of thrombophilia panel testing. Individual with documented thrombotic episode or at high risk. Although thrombosis may occur in both veins and arteries, the term thrombophilia is usually considered in the context of venous thromboembolism vte, since most of the well. Analysis of thrombophilia test ordering practices at an. The predisposition to form clots can arise from genetic factors, acquired changes in the clotting mechanism, or, more commonly, an interaction between. Thrombophilia describes inherited and acquired prothrombotic states which predispose to venous, but not arterial thromboembolism. Before testing, however, we must give careful consideration to.
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