Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia

Sas, G.; Blaskó, György; Bánhegyi, Dénes; Jakó, János; Pálos, L

doi:10.1055/s-0038-1647677

Cited by 133 publications

(44 citation statements)

References 19 publications

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“…For some cases (8,23,25,32) a qualitative AT-111 deficiency was proposed based on the lack of correlation between AT-I11 antigen levels and AT-111 activity, similar to our observation. Others have noted an abnormal afinity for heparin and two-dimensional immunoelectrophoresis in the presence of heparin has revealed two peaks of AT-I11 (28,30,33,36). The dysfunctional AT-111 in this study appears to be an acquired, not an inherited, phenomena.…”

Section: Discussionsupporting

confidence: 55%

Dysfunctional Antithrombin III in Sick Premature Infants

et al. 1985

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ABSTRAm. Antithrombin 111, a major inhibitor of activated coagulation factors has low immunologic levels in the human infant. The objective of this study was to deermine if the antithrombin 111 molecule is fully functional in sick premature infants. The populations studied included: adult controls (n = 20), full term healthy infants (n = 18), sick premature infants on day 1 (n = 16) and at >7 days of age (n = lo), and infants with disseminated intravascular coagulation (n = 11). This was diagnosed in the presence of prolonged screening tests, decreased levels of fibrinogen, and platelets along with elevated fibrin degradation products. Plasma antithrombin 111 levels were measured biologically (chromogenic substrate S2238) and immunologically (radialimmunodiffusion), and expressed as a percent of adult pooled plasma. Crossed immunoelectrophoresis were performed in the presence and absence of heparin. The antithrombin 111 biologic/immunologic ratios for adults, healthy full term infants, and sick premature infants on day 1 of life were all near unity. In contrast sick premature infants beyond the 1st wk of life and infants with disseminated intravascular coagulation had lower biologic activity compared to immunologic (B/I = 0.77 f 0.28, 0.78 f 0.17, p < 0.01), respectively. In all groups, the antithrombin 111 molecule was normal on crossed immunoelectrophoresis except for one infant with disseminated intravascular coagulation. Sick premature infants may acquire a dysfunctional antithrombin 111 molecule in the postnatal period. (Pediatr Res 19: 237-239, 1985) Abbreviations AT-111, antithrombin 111 RDS, respiratory distress syndrome BPD, bronchopulmonary dysplasia DIC, disseminated intravascular coagulation CIE, cross-immunoelectrophoresis APTT, activated partial thromboplastin time PT, prothrombin time TcT, thrombin clotting time EACA, €-amino caproic acid Normal hemostasis depends on a delicate balance between the procoagulant and fibrinolytic systems and their respective inhibitors. AT-111, the major inhibitor for the coagulation system

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Section: Discussionsupporting

confidence: 55%

Dysfunctional Antithrombin III in Sick Premature Infants

et al. 1985

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“…Several abnormalities of AT-III molecule were reported and their functional activities were significantly depressed (Sas et al, 1974(Sas et al, , 1975(Sas et al, , 1980Brozovib et al, 1978;Wolf et al, 1979;Williams and Murano, 1981). However, in the present…”

Section: Resultsmentioning

confidence: 99%

“…Recently, Borsodi and Narasimhan (1978) and Kera and Yamasawa (1982) have demonstrated the microheterogeneities of the purified or plasma AT-III by preparative or analytical isoelectric focusing. Several abnormalities of AT-III molecule have been reported in the cases of AT-III deficiencies (Sas et aL, 1974(Sas et aL, , 1975(Sas et aL, , 1980Brozovi6 et aL, 1978;Wolf et aL, 1979;Matsuo et al, 1979;Williams and Murano, 1981). However, up to the present day, no variation of AT-III molecule in the normal plasma has been observed.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic variation of human antithrombin III in normal plasma: Detection by isoelectric focusing

1983

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SummaryPlasma AT-III exhibits a microheterogeneous form with pls distributed over a narrow pH range by analytical agarose gel isoelectric focusing followed by immunofixation. Three new variants, each of which was the heterozygous state between the common and each variant components, were observed in a total 370 samples from unrelated healthy donors. These variants have at least normal activities of the thrombin inactivation in the presence of heparin, and their immunological antigen concentrations in plasma are in the normal range.

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“…[2] [5] [6]. Egeberg was the first to report that quantitative deficiency of anti-thrombin III (AT-III) is associated with increased risk of thrombosis [7].…”

Section: Discussionmentioning

confidence: 99%

Multiple Major Thrombo-Embolic Events, including Stroke, in a Patient with Combined Congenital Anti-Thrombin III Deficiency and MTHFR Homozygous Mutation

Zaid¹,

Abbas²,

Shaker³

et al. 2017

WJCD

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We report a case of a young male patient suffering from congenital AntiThrombin III (AT III) deficiency, presented with four major thrombotic events. These events were acute coronary syndrome (Non-ST elevation myocardial infarction), cerebral infarction, peripheral acute upper limb (UL) ischemia and bilateral extensive deep venous thrombosis. The latter two developed despite that the patient was receiving full anticoagulation therapy. His International normalized ratio (INR) was 2.5. Eventually, the patient developed pulmonary embolism and died. He had a prominent family history of thrombotic events. Screening for AT III deficiency in young patients with thrombotic event (thrombophilia) is essential especially those having family history of the latter. This is justified as thrombotic events may occur in up to 80% of these patients. Our patient with 4 major thrombotic events ending in fatality in less than 1 month deserves the nomenclature.

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Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia

Cited by 133 publications

References 19 publications

Dysfunctional Antithrombin III in Sick Premature Infants

Dysfunctional Antithrombin III in Sick Premature Infants

Phenotypic variation of human antithrombin III in normal plasma: Detection by isoelectric focusing

Multiple Major Thrombo-Embolic Events, including Stroke, in a Patient with Combined Congenital Anti-Thrombin III Deficiency and MTHFR Homozygous Mutation

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