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Medical condition
Antithrombin III deficiency
Other names
ATIII deficiency
Specialty
Hematology
Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. This deficiency may be inherited or acquired.[1] It is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism, and repetitive intrauterine fetal death (IUFD).[2] Hereditary antithrombin deficiency results in a state of increased coagulation which may lead to venous thrombosis.[3] Inheritance is usually autosomal dominant, though a few recessive cases have been noted.[4] The disorder was first described by Egeberg in 1965.[5] The causes of acquired antithrombin deficiency are easier to find than the hereditary deficiency.[3]
The prevalence of antithrombin deficiency is estimated at ~0.02 to 0.2% of the general population, and 1-5% of patients with venous thromboembolism.[6] There is an elevated risk of thrombosis, whereby 50% patients with AT deficiency were found to have venous thromboembolism by age 50.[6]
^Găman AM, Găman GD (2014). "Deficiency Of Antithrombin III (AT III) - Case Report and Review of the Literature". Current Health Sciences Journal. 40 (2): 141–3. doi:10.12865/CHSJ.40.02.12. PMC 4340457. PMID 25729597.
^Kurman RJ, ed. (2002). "Chapter 23: Diseases of the Placenta". Blaustein's Pathology of the Female Genital Tract (Fifth ed.). pp. 1136–7.
^ abKhor B, Van Cott EM (December 2010). "Laboratory tests for antithrombin deficiency". American Journal of Hematology. 85 (12): 947–50. doi:10.1002/ajh.21893. PMID 21108326. S2CID 1435184.
^Online Mendelian Inheritance in Man (OMIM): 107300
(thrombin) and factor Xa. Antithrombin is also termed antithrombinIII (AT III). The designations antithrombin I through to antithrombin IV originate in early...
affinity to FXa, thrombin, or both). Quantitative or qualitative deficiency of antithrombin (inborn or acquired, e.g., in proteinuria) leads to thrombophilia...
requiring CPB. A small percentage of patients, such as those with an antithrombinIIIdeficiency, may exhibit resistance to heparin. In these patients, patients...
to cause thrombosis. The main ones are antithrombinIIIdeficiency, protein C deficiency and protein S deficiency. Milder rare congenital thrombophilias...
rechecking laboratory values. Use in antithrombinIIIdeficiency: FFP can be used as a source of antithrombinIII in patients who are deficient of this...
Hypercoagulability or thrombophilia, is caused by, for example, genetic deficiencies or autoimmune disorders. Recent studies indicate that white blood cells...
factor V Leiden, prothrombin mutation, proteins C and S deficiencies, and antithrombinIIIdeficiency. Hypercoagulability in pregnancy, particularly due to...
Other causes of reactive thrombocythemia include: post surgery, iron deficiency, drugs, and rebound effect after bone marrow suppression. Research suggests...
diagnosis of protein S deficiency are- Antiphospholipid syndrome, disseminated intravascular coagulation and antithrombindeficiency (though this list is...
deficiency, activated protein C resistance (Factor V Leiden) and antithrombinIIIdeficiency. Although the above hypothesis is the most commonly accepted...
of thromboembolism, thrombophilia (abnormal blood clotting), antithrombinIIIdeficiency, atrial fibrillation (a kind of abnormal heart rhythm) with artery...
antithrombinIII and other members of the alpha-1 antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency....
and purpura fulminans in adults: acute deficiencies of proteins C and S and early treatment with antithrombinIII concentrates". Intensive Care Med. 16...
mutations responsible for the genetic deficiency and the subsequent sequence alignments of alpha1-antitrypsin and antithrombin in 1982 led to the recognition...
pig intestines and bovine lungs. UFH binds to the enzyme inhibitor antithrombinIII (AT), causing a conformational change that results in its activation...
Va. Factor Xa is inhibited by the antithrombinIII/heparin system, which also acts to inhibit thrombin. Deficiencies of either protein components of the...
thrombin. Unlike thrombin, reptilase is resistant to inhibition by antithrombinIII. Thus, the reptilase time is not prolonged in blood samples containing...
with homozygous deficiency of antithrombinIII: successful outcome following pulmonary thrombectomy and infusions of antithrombinIII concentrate". His...
Defekte von AntithrombinIII, Protein C und Protein S" [Molecular biological basis and diagnosis of hereditary defect of antithrombinIII, protein c and...
particularly those caused by a decrease in blood antithrombinIII levels due to leakage. AntithrombinIII counteracts the action of thrombin. Thrombosis...
cascade. Heparin works by binding to and activating the enzyme inhibitor antithrombinIII, an enzyme that acts by inactivating thrombin and factor Xa. In contrast...