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circulating blood that initiate thrombosis. Stasis by constriction of blood vessels. Elevated fibrinogen, increasing blood viscosity, initiating thrombosis.
Platelets
Thrombosis may be caused by:
Increased Platelet counts Qualitative alterations in platelets (by intrinsic
imbalance between the anticoagulant and prothrombotic activities of plasma. Thrombophilia can be caused by qualitative alterations or increased titer of activated clotting factors.
Factor V Leiden
Factor V Leiden thrombophilia is an inherited
disorder of blood clotting. 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.
common underlying genetic cause of thrombophilia. The mutation can cause deep venous thrombosis with a greater frequency of occurrence of thrombi in the lower limbs than in the chest.
Genetic Testing
The 3 most common assays ordered to
investigate a genetic predisposition to thrombosis are: 1. Factor V (Leiden) 2. Prothrombin mutation 3. Methylenetetrahydrofolate reductase enzyme (MTHFR)
Factor V (Leiden)
Evaluation for factor V Leiden can begin with a test for activated protein C (APC) resistance, though it is not commonly performed. About 95% of the time, APC resistance is due to a factor V Leiden mutation. If resistance is present, then
a test for the factor V Leiden gene mutation is performed on the affected person's DNA, both to confirm the diagnosis and to determine whether the person is heterozygous or homozygous for the mutation.
Prothrombin mutation
The PT 20210 mutation must be diagnosed
with genetic testing, checking directly for the gene mutation in the person's DNA and determining whether the patient is heterozygous or homozygous. Although prothrombin levels are usually moderately elevated with this mutation and could be measured, they are not clinically useful in identifying the mutation.
acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also called folic acid or vitamin B9).
methylenetetrahydrofolate to 5methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine.
is produced when an amino acid (a building block of protein) called methionine is broken down in the body. We all have some homocysteine in our blood. Elevated homocysteine levels (also called hyperhomocysteinemia) may cause irritation of the blood vessels.
increased risk for (1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, and (2) blood clots in the veins, referred to as venous thrombosis.
elevated homocysteine levels; sometimes to help determine your risk of thrombosis or premature cardiovascular disease (CVD).
to an elevated homocysteine test and may be occasionally ordered along with other cardiac risk tests if a person has a personal or family history of premature cardiovascular disease (CVD) or thrombosis.
Circulating Anticoagulants
Acquired inhibitors that inactivate or inhibit
the usual procoagulant activity of coagulation factors. Characterized as specific (single coagulation factor), or nonspecific (complex of coagulation factors).
Circulating Anticoagulants
majority of these inhibitors are
immunoglobulins which may arise following transfusion of blood. Specific inhibitors can be detected in patients with individual factor deficiencies. Patients with acquired specific inhibitors may exhibit hemorrhagic episodes.
patients. Interferes with phospholipid-dependent coagulation reactions in laboratory assays but does not inhibit the activity of any specific coagulation factor LA is an inhibitor that prolongs phospholipiddependent clotting tests in vitro. Most common cause of prolonged aPTT.
Antiphospholipid Syndrome
The APS is defined by the persistent presence
of antiphospholipid antibodies. APS is a prothrombotic disorder with a history of recurrent venous or arterial thromboembolism or a history of miscarriages. APS is an important cause of acquired thrombophilia.
Antiphospholipid Syndrome
Antiphospholipid antibodies include:
LA Anticardiolipin antibodies Anti-b2-glycoprotien-1 antibodies.
of patients with factor VIII deficiency (hemophilia A), and the majority occur in patients with severe hemophilia (those having less than 1% factor VIII activity). Nonhemophilia women have been reported to develop factor VIII inhibitors during the postpartum period, most frequently after th birth of their first child.
Ulcerative colitis
Bronchial asthma also have an increased tendency to develop factor VIII
von Willebrand disease, underlying diseases such as malignancy or SLE, and in previously healthy persons.
Factor IX Inhibitor
Inhibitors are found in approximately 2% to
3% of factor IXdefi cient (hemophilia B) patients, but the incidence of inhibitors in severe hemophilia B may be as high as 12%
Although these inhibitors are predominantly a result of transfusion of blood products, spontaneous inhibitor formation
Factor V Inhibitor
rare and are not generally associated with
hereditary factor V defi ciency. exposure to streptomycin but no causal relationship has been established.
are varied and include congenital deficiencies, immune disorders, and amyloidosis
Clinical Presentation
The LA is the most commonly acquired Bleeding episodes in these patients are
Clinical Presentation
patients with LA are at increased risk for:
arterial and venous thromboembolism Spontaneous abortion intrauterine deaths
Clinical Presentation
Nonhemophiliac patients with acquired
Clinical Presentation
Inhibitors of factors XIII, II, VII, IX, and X;
Laboratory Findings
Prolonged PT or aPTT are classic laboratory
findings
Incubation of patients plasma with normal
plasma at 37C (mixing study) and determination of aPTT and PT may detect the presence of an inhibitor
prolonged in the presence of an inhibitor
Laboratory Findings
Inhibitors are more time and temperature
Laboratory Findings
Detection of antiphospholipid antibody is based on
Russells viper venom time kaolin clotting time platelet neutralizationprocedure tissue thromboplastin inhibition test