Disease relevance of Antithrombin III Deficiency

• Extensive thrombus formation with heparin resistance during extracorporeal circulation. A new presentation of familial antithrombin III deficiency [1].
• Seven patients (32%) had protein C deficiency, six patients (27%) had activated protein C resistance, five (23%) had anti-cardiolipin antibodies, five (23%) had antithrombin III deficiency, and four patients (18%) had protein S deficiency [2].
• Heparin cofactor II determination--levels in normals and patients with hereditary antithrombin III deficiency and disseminated intravascular coagulation [3].
• Plasminogen and antithrombin III deficiencies in the childhood nephrotic syndrome associated with plasminogenuria and antithrombinuria [4].
• All participants were tested for inherited thrombophilias: mutations of prothrombin, factor V Leiden and methylene tetrahydrofolate reductase (MTHFR), and protein C, protein S and antithrombin III deficiencies [5].

High impact information on Antithrombin III Deficiency

• These disorders are generally inherited abnormalities of coagulation in which a physiologic anticoagulant mechanism is defective: for example, antithrombin III deficiency, protein C and protein S deficiency, abnormalities of the fibrinolytic system, and dysfibrinogenemias [6].
• In one of these families antithrombin III deficiency is caused by hemizygosity of the ATIII locus [7].
• Other causes included antiphospholipid antibodies in 4, protein S deficiency in 3, intracranial tumors in 3, systemic lupus erythematosus in 3, infections in 3, antithrombin III deficiency in 2, postpartum in 1, and oral contraceptives in 1 [8].
• RESULTS: In 10 cases (17%) the stroke was attributed to deficiency of coagulation inhibitors: three men had protein C deficiency, two women had protein S deficiency, and five had antithrombin III deficiency (three men and two women) [9].
• Successful use of argatroban as an anticoagulant in burn-related severe acquired antithrombin III deficiency after heparin failure [10].

Chemical compound and disease context of Antithrombin III Deficiency

• Oxymetholone therapy in patients with familial antithrombin III deficiency [11].
• It is recommended that all patients with mesenteric venous thrombosis should be screened for antithrombin III deficiency as treatment with coumarin anticoagulants may be indicated, providing effective prophylaxis against further thrombotic episodes [12].
• Antithrombin III deficiency should be managed with subcutaneous heparin taken from before conception until at least one week post-delivery, when warfarin therapy can be recommended [13].

Biological context of Antithrombin III Deficiency

• Type II C is a subtype of defective antithrombin III deficiency in which there is a molecular defect in the heparin binding site [14].
• A patient with congenital antithrombin III deficiency and a history of thromboembolic events prior to pregnancy was successfully treated with subcutaneous heparin alone throughout two pregnancies [15].

Gene context of Antithrombin III Deficiency

• Inherited deficiencies of protein S, an inhibitor of the coagulation system, are now recognized as occurring at least twice as frequently as antithrombin III deficiency in patients with venous thrombosis [16].
• In this group of 141 patients, 1% had an identifiable fibrinogen abnormality, 2% a plasminogen abnormality, and 3% an antithrombin III deficiency [17].
• Antithrombin III deficiency, homozygous MTHFR C677T mutation, and prothrombin G20210A mutation were not detected in any patients [18].
• The combination of impaired PC activity shown in this study, with previously demonstrated antithrombin III deficiency and other coagulation abnormalities, is suggestive of a hypercoagulable state [19].
• Acute promyelocytic leukemia developed in a patient with congenital antithrombin III deficiency [20].

Analytical, diagnostic and therapeutic context of Antithrombin III Deficiency

• Subcutaneous heparin and plasma infusion were successfully used during an induced abortion in a young woman with familial antithrombin-III deficiency and a history of severe thrombotic episodes [21].
• We report a 2 year-old boy who presented with Budd-Chiari syndrome due to congenital antithrombin III deficiency, who was managed with an expandable metal stent placed in the inferior vena cava and oral anticoagulation [22].

References