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Antithrombin IIIAntithrombin III DeficiencyAntithrombinsHeparinAntithrombin ProteinsThrombinFactor XaFactor XBlood CoagulationHeparin Cofactor IIProthrombinSerine Proteinase InhibitorsProtein CBlood Coagulation TestsDisseminated Intravascular CoagulationAnticoagulantsBlood Coagulation FactorsThrombophlebitisHemostasisFibrinogenProtein C DeficiencyBlood Coagulation DisordersThrombophiliaProtein S DeficiencyThiohydantoinsHirudinsp-DimethylaminoazobenzeneProtein SFactor IXaThrombosisThrombin TimeKineticsHeparin Lyasealpha 1-AntitrypsinImmunoelectrophoresis, Two-DimensionalChromogenic CompoundsPentosan Sulfuric PolyesterPartial Thromboplastin TimeDermatan SulfateFactor VHeparin AntagonistsFibrinopeptide AChromatography, AffinityOligosaccharidesalpha-2-AntiplasminFactor XIaBinding SitesComplement C1 Inactivator Proteinsalpha-MacroglobulinsHeparitin SulfateProtein BindingFibrinolysisProtease InhibitorsCetaceaAmino Acid SequenceFibrinopeptide BProtease NexinsSerpinsGlycosaminoglycansFactor XIFactor IXFactor VIIaHeparinoidsPhlebitisBenzamidinesUmbelliferonesMolecular Sequence DataElectrophoresis, Polyacrylamide GelFibrin Fibrinogen Degradation ProductsSwineFibrinPipecolic AcidsActivated Protein C ResistanceProtein ConformationMolecular WeightThromboembolismDansyl CompoundsReceptors, ThrombinProthrombin TimePolysaccharidesThromboplastinPregnadienesStructure-Activity RelationshipPlasminogenSerine EndopeptidasesRecombinant Proteins

HeterozygousDeficiency of antithrombinThrombophiliaMutationsHereditarySevereAutosomal dominantMutationNeonatal purpura fulminansAnticoagulantHeparinDefectsATIIIAnticoagulationProteinsInactivationThrombosisThrombin2019PatientsMildConcentrateAdultsFunctionalThromboticPulmonaryFactorConcentrationAcuteLevelsTreatmentGeneticActivity

Heterozygous10

• Heterozygous carriers have 3-fold increased risk in first-time VTE. (unboundmedicine.com)
• Hereditary protein C deficiency is caused by homozygous and heterozygous mutations that result in severe coagulopathies. (medscape.com)
• Whilst homozygous FVL deficiency will often present in children, heterozygous children are unlikely to experience a significant risk unless an additional prothrombotic risk factor is also present. (brainkart.com)
• Women with pre-eclampsia/eclampsia were more likely to have heterozygous factor V Leiden mutation, heterozygous G20210A prothrombin gene mutation, homozygous MTHFR C677T mutation, protein C deficiency, protein S deficiency or activated protein C resistance compared with controls. (contemporaryobgyn.net)
• However, rare homozygous or compound heterozygous patients have been reported and they have a much more severe phenotype. (mhmedical.com)
• Mutations in the factor V Leiden and prothrombin 20210G>A predispose to thrombophilia both in the heterozygous and homozygous states but the latter tends to confer higher risk (see later). (mhmedical.com)
• Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. (medscape.com)
• The MTHFR anomaly is reported out as heterozygous or homozygous. (jillcarnahan.com)
• Patients with low α1 antitrypsin will be phenotyped (by isoelectric focussing) to detect homozygous (2 identical alleles) or heterozygous (2 different alleles) deficiency states. (southtees.nhs.uk)
• PIMZ heterozygous individuals have 40% reduction in levels, PIZZ homozygous individuals have 85% reduction. (southtees.nhs.uk)

Deficiency of antithrombin2

• Because antithrombin inhibits thrombin and factors Xa, IXa, and XIa, deficiency of antithrombin predisposes to venous thrombosis. (msdmanuals.com)
• The odds ratios for the development of SVT in patients with factor V Leiden, the prothrombin G20210A mutation, or a deficiency of antithrombin, protein S or C were 6.1, 4.3, and 12.9, respectively. (medilib.ir)

Thrombophilia3

• In addition to the regular blood hetero zygous for factor V Leiden (G1691A) and chemistry studies, she was screened and homozygous for the MTHFR (C677T) for acquired and inherited thrombophilia. (who.int)
• Figure 1 Staining pattern of hybridized DNA from patient (A), normal positive control (B), negative control (C) and Viennalab Stripassay (D). Insert shows pattern of hybridization anticardiolipin/antiphospholipid antibodies, same thrombophilia profile with no associ- antithrombin III, protein S and protein C. ated events. (who.int)
• Inherited thrombophilia risk factors include deficiencies in antithrombin, Protein C, Protein S, mutations in FVL and F2, and dysfibrinogenemias. (insuranceclaimdenialappeal.com)

Mutations4

• Homozygous mutations have a higher risk of VTE. (unboundmedicine.com)
• She was taking com- ase (MTHFR) point mutations [ 3 ]. (who.int)
• Inherited thrombophilias include deficiencies of the three natural anticoagulant proteins antithrombin (AT), protein C (PC), and protein S (PS), and specific mutations in the genes for factor V (factor V Leiden) and prothrombin (prothrombin 20210G>A). (mhmedical.com)
• VTE is characteristically seen in deficiencies in Protein C, Protein S and antithrombin, as well as with FVL and F2 mutations. (insuranceclaimdenialappeal.com)

Hereditary6

• Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. (medscape.com)
• Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. (medscape.com)
• 1. Pabinger I, Thaler J . How I treat patients with hereditary antithrombin deficiency. (msdmanuals.com)
• Neonatal purpura fulminans is associated with a hereditary deficiency of the natural anticoagulants protein C and protein S, as well as antithrombin III (ATIII). (medscape.com)
• In sum, Puppy strategies offer several medical hereditary breast rewards One) availability regarding buccal bone post-extraction and constraint of alveolar form resorption Only two) mitigation from the need for intrusive ridge enlargement treatments 3) gentle tissue perspective steadiness and esthetic benefits. (fungalsignaling.com)
• A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient. (medscape.com)

Severe3

• Pupura fulminas is the result of severe (homozygous) Protein C or Protein S deficiency causing massive thromboembolic complications (a form disseminated intravascular coagulation) in newborns shortly after birth. (labtestsonline.org.uk)
• METHODS: Due to severe homozygous type II antithrombin heparin binding site (HBS) deficiency, the thrombin generation (TG) was monitored in this woman via the Thrombin Generation Assay (TGA). (bvsalud.org)
• Patients with homozygous protein C deficiency usually suffer from severe and fatal thrombosis in the early stage of life. (diapharma.com)

Autosomal dominant2

• The most common genetic thrombophilias (FVL, prothrombin G20210A mutation, proteins C and S defects, and antithrombin III deficiency) are inherited in an autosomal dominant pattern. (unboundmedicine.com)
• Deficiencies of the three natural anticoagulant proteins AT, PC, and PS are typically inherited as autosomal dominant traits. (mhmedical.com)

Mutation6

• Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. (medscape.com)
• Homozygous FVL carries 18-fold increase risk in first-time VTE compared to patients without FVL mutation. (unboundmedicine.com)
• A few studies suggested a homozygous MTHFR C677T mutation confers a 2- to 3-fold increased risk of pre-eclampsia. (contemporaryobgyn.net)
• The cases of antithrombin (AT)-deficient pregnant women with a homozygous HBS II mutation are relatively rare and are accompanied by an increased thrombophilic risk, which is manifested by increased thrombin generation (TG). (bvsalud.org)
• Alsheikh S, Alghamdi R, Alqatari A, Alfareed A, AlSaleh M. Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings. (medscape.com)
• The mutation destroys one of the three cleavage sites, rendering FVa partially resistant to APC-mediated degradation. (diapharma.com)

Neonatal purpura fulminans1

• In neonatal purpura fulminans secondary to homozygous protein C or S deficiency, treat with FFP or protein C concentrate for 6-8wks until skin lesions have healed. (brainkart.com)

Anticoagulant2

• Heparin exerts its anticoagulant effect by activating antithrombin. (msdmanuals.com)
• CONCLUSIONS: Consistent monitoring of thrombin generation with LMWH anticoagulant therapy administration during pregnancy together with antithrombin administration before and after delivery can improve the overall condition of pregnant women and the quality of their care. (bvsalud.org)

Heparin4

• Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation. (medscape.com)
• Rosenberg RD. Actions and interactions of antithrombin and heparin. (medscape.com)
• Heparin normally inhibits coagulation by accelerating inactivation of thrombin by antithrombin. (msdmanuals.com)
• BACKGROUND: We present the case study of a 28-year-old pregnant woman with antithrombin deficiency who was treated with low-molecular-weight heparin (LMWH). (bvsalud.org)

Defects1

• Defects in protein S, protein C, and antithrombin (formerly known as antithrombin III) account for most of the remaining cases ( table 1 ) [ 16-19 ]. (medilib.ir)

ATIII1

• In children more than in adults, antithrombin III (ATIII) deficiency may cause arterial occlusion resulting in stroke or other ischemic injury. (medscape.com)

Anticoagulation2

• Long-term anticoagulation with warfarin may be appropriate (aim for INR of 3-4). (brainkart.com)
• In general, these patients receive relatively short-term anticoagulation (3-6 months). (clinlabnavigator.com)

Proteins1

• Since rare patients with antithrombin deficiency express dysfunctional antithrombin proteins, activity assays are favored over antigen assays for the diagnosis of antithrombin deficiency. (msdmanuals.com)

Inactivation1

• In patients with antithrombin deficiency, inactivation of thrombin is reduced. (msdmanuals.com)

Thrombosis4

• Antithrombin is a plasma protein that inhibits thrombin and factors Xa, IXa, and XIa, thereby inhibiting thrombosis. (msdmanuals.com)
• [ 3 ] is a rare syndrome of intravascular thrombosis and hemorrhagic infarction of the skin that is rapidly progressive and is accompanied by vascular collapse and disseminated intravascular coagulation (DIC) . (medscape.com)
• In general, patients with a history of VTE may be stratified into three risk categories for recurrent thrombosis. (clinlabnavigator.com)
• Protein C, protein S or antithrombin deficiency are known causes of thrombosis. (symptoma.com)

Thrombin6

• [ 3 ] Screening tests, including platelet count, prothrombin time (PT), activated partial thromboplastin time (aPTT), thrombin time, and assessment of fibrin degradation products or soluble fibrin monomers, should be performed in all patients who have signs of DIC. (medscape.com)
• Blood samples were also assessed for protein C, protein S, anti-thrombin III and anticardiolipin antibodies (ACA) levels. (opencardiovascularmedicinejournal.com)
• The residual thrombin in the test mixture is inversely proportional to the functional antithrombin concentration in the patient's plasma. (msdmanuals.com)
• Antithrombin was administered before and after delivery, which was significantly reflected in the decrease in thrombin generation. (bvsalud.org)
• initially designated antithrombin III) is a plasma protease inhibitor that is able to neutralize all proteases of the intrinsic coagulation pathway, including thrombin, factors XIIa, XIa, Xa, and IXa. (blogspot.com)
• It acts by enhancing the inhibition rate of activated clotting factors including thrombin and factor Xa through its action on antithrombin III. (onlinenetmed.com)

20191

• 2019 May-Jun;67(3):21-24. (nih.gov)

Patients1

• viscosity, reduced red cell deformability, The main objectives of this study were abnormal red cell adhesive properties, en- to assess platelet aggregation patterns and dothelial intimal proliferation, bone marrow levels of PC, PS and AT III in SCA patients or fat embolism and a chronic hypercoagula- in the steady state and in vaso-occlusive ble state [6]. (who.int)

Mild1

• Di Minno MN, Dentali F, Lupoli R, Ageno W. Mild antithrombin deficiency and risk of recurrent venous thromboembolism: a prospective cohort study. (medscape.com)

Concentrate1

• Alternatively, antithrombin III or protein C concentrate may be given if relevant. (brainkart.com)

Adults1

• She fold for homozygous adults respectively had an identical twin sister who had the [ 7 ]. (who.int)

Functional1

• Antigenic testing may be performed to identify specific glycoprotein antibodies associated with abnormal functional anti-phospholipid antibody studies, or to subtype deficiencies detected by decreased Protein S, Protein C and Antithrombin functional activity. (insuranceclaimdenialappeal.com)

Thrombotic1

• APAS are thought to cause these thrombotic events either by (1) binding and decreasing the function of antithrombin III (38,39) (2) enhancing thromboxane release, which leads to platelet aggregation, or (3) decreasing the activation of protein C, which is needed to inactivate the clotting process. (contemporaryobgyn.net)

Pulmonary2

• ECG of a person with pulmonary embolism, showing sinus tachycardia of approximately 100 beats per minute, large S wave in Lead I, moderate Q wave in Lead III, inverted T wave in Lead III, and inverted T waves in leads V1 and V3. (wikem.org)
• We report four cases of A1ATD involving the deficient Pi Mmalton allele with very different clinical expressions: (i) one Mmalton/Mmalton with liver fibrosis and cirrhosis, (ii) two Mmalton/Z with chronic pulmonary obstructive disease in one case and (iii) one M/Mmalton without liver or lung disease. (biomedcentral.com)

Factor1

• 3. for measurement of factor VIII (FVIII) and factor IX (FIX) inhibitors that includes a 30minute preanalytical heat treatment (PHT) step to remove endogenous and infused FVIII or FIX. (cdc.gov)

Concentration1

• Note that because α1-antitrypsin is an acute phase protein which can increase in concentration 2-3 fold, inflammatory conditions might mask deficiency. (southtees.nhs.uk)

Acute1

• It may be classified as (1) neonatal, (2) idiopathic, or (3) acute infectious. (medscape.com)

Levels1

• Antithrombin protein levels also can be measured with immunologic assays, but these tests only measure the amount of antithrombin protein in the sample and cannot assess the function of this protein. (msdmanuals.com)

Treatment1

• She was anticoagulated for 3 months and has not required any further treatment or prophylaxis. (blogspot.com)

Genetic1

• Already the discovery of the first families presenting a defect in antithrombin (AT) led to the description of the genetic causes of this defect. (intechopen.com)

Activity1

• We used Siemens diagnostic kits Berichrom® Antithrombin III (IIa) and INNOVANCE® Antithrombin (Xa) to determine antithrombin activity. (bvsalud.org)