Antithrombin III Deficiency
Protein S Deficiency
Electron Transport Complex III
Familial overexpression of beta antithrombin caused by an Asn135Thr substitution. (1/74)We have investigated the basis of antithrombin deficiency in an asymptomatic individual (and family) with borderline levels (approximately 70% antigen and activity) of antithrombin. Direct sequencing of amplified DNA showed a mutation in codon 135, AAC to ACC, predicting a heterozygous Asn135Thr substitution. This substitution alters the predicted consensus sequence for glycosylation, Asn-X-Ser, adjacent to the heparin interaction site of antithrombin. The antithrombin isolated from plasma of the proband by heparin-Sepharose chromatography contained amounts of beta antithrombin (the very high affinity fraction) greatly increased (approximately 20% to 30% of total) above the trace levels found in normals. Expression of the residue 135 variant in both a cell-free system and COS-7 cells confirmed altered glycosylation arising as a consequence of the mutation. Wild-type and variant protein were translated and exported from COS-7 cells with apparently equal efficiency, in contrast to the reduced level of variant observed in plasma of the affected individual. This case represents a novel cause of antithrombin deficiency, removal of glycosylation concensus sequence, and highlights the potentially important role of beta antithrombin in regulating coagulation. (+info)
Plasma antithrombin III deficiency in ischaemic stroke in the young. (2/74)A deficiency of plasma antithrombin III has been identified as a potential risk factor for thrombosis. In a pilot study of 56 patients aged less than 40 years who presented with ischaemic stroke of unknown etiology, we detected only one case of plasma antithrombin III deficiency. Antithrombin III activity was estimated by a chromogenic assay. Hence, antithrombin III deficiency, though rare, should be considered while evaluating young patients with stroke of unknown etiology. (+info)
Enhancement of heparin cofactor II anticoagulant activity. (3/74)Heparin cofactor II (HCII) is a serpin whose thrombin inhibition activity is accelerated by glycosaminoglycans. We describe the novel properties of a carboxyl-terminal histidine-tagged recombinant HCII (rHCII-CHis(6)). Thrombin inhibition by rHCII-CHis(6) was increased >2-fold at approximately 5 microgram/ml heparin compared with wild-type recombinant HCII (wt-rHCII) at 50-100 microgram/ml heparin. Enhanced activity of rHCII-CHis(6) was reversed by treatment with carboxypeptidase A. We assessed the role of the HCII acidic domain by constructing amino-terminal deletion mutants (Delta1-52, Delta1-68, and Delta1-75) in wt-rHCII and rHCII-CHis(6). Without glycosaminoglycan, unlike wt-rHCII deletion mutants, the rHCII-CHis(6) deletion mutants were less active compared with full-length rHCII-CHis(6). With glycosaminoglycans, Delta1-68 and Delta1-75 rHCIIs were all less active. We assessed the character of the tag by comparing rHCII-CHis(6), rHCII-CAla(6), and rHCII-CLys(6) to wt-rHCII. Only rHCII-CHis(6) had increased activity with heparin, whereas all three mutants have increased heparin binding. We generated a carboxyl-terminal histidine-tagged recombinant antithrombin III to study the tag on another serpin. Interestingly, this mutant antithrombin III had reduced heparin cofactor activity compared with wild-type protein. In a plasma-based assay, the glycosaminoglycan-dependent inhibition of thrombin by rHCII-CHis(6) was significantly greater compared with wt-rHCII. Thus, HCII variants with increased function, such as rHCII-CHis(6), may offer novel reagents for clinical application. (+info)
The prevalence of hereditary thrombophilia in the Trakya region of Turkey. (4/74)The prevalences of deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS) and in the activated protein C (APC) resistance in the thrombotic population of the Trakya region, Turkey were investigated. 37 patients with venous thrombosis (VT) and 17 patients with arterial thrombosis (ArT) were included in this study. The mean ages of the patients with VT and ArT were 46 years (range 20-70) and 38 years (range 32-40), respectively. The activity of AT III was measured by commercially available immuno-turbidimetric assay. The activities of PC and PS were determined by coagulometric assay. The APC resistance was measured using a modified APTT-based clotting assay. Among the VT patients, there were 2 cases (5.4%) with AT III, 5 (13.51%) with PC deficiency, 5 (13.51%) with PS deficiency and 2 (5.4%) with APC resistance. In the ArT patient group, there was 1 patient (5.88%) with AT III, 3 (17.64%) with PC deficiency, 1 (5.88%) with PS deficiency and no APC resistant patients, while there was one (2.08%) with PC deficiency and one (2.08%) with APC resistance in the control group (49 persons, mean age 41 years). The relative risk of thrombosis (odds ratio) was 1.7 in the deficiency of PC and 5.6 in the deficiency of PS. The data presented suggests that the prevalences of AT III, PC and PS deficiencies causing thrombophilia in the Trakya region of Turkey are higher than in other reported studies while the APC resistance is lower than in others. Further studies including more patients would be required to clarify these discrepancies. (+info)
Complete antithrombin deficiency in mice results in embryonic lethality. (5/74)Antithrombin is a plasma protease inhibitor that inhibits thrombin and contributes to the maintenance of blood fluidity. Using targeted gene disruption, we investigated the role of antithrombin in embryogenesis. Mating mice heterozygous for antithrombin gene (ATIII) disruption, ATIII(+/-), yielded the expected Mendelian distribution of genotypes until 14.5 gestational days (gd). However, approximately 70% of the ATIII(-/-) embryos at 15.5 gd and 100% at 16.5 gd had died and showed extensive subcutaneous hemorrhage. Histological examination of those embryos revealed extensive fibrin(ogen) deposition in the myocardium and liver, but not in the brain or lung. Furthermore, no apparent fibrin(ogen) deposition was detected in the extensive hemorrhagic region, suggesting that fibrinogen might be decreased due to consumptive coagulopathy and/or liver dysfunction. These findings suggest that antithrombin is essential for embryonic survival and that it plays an important role in regulation of blood coagulation in the myocardium and liver. (+info)
Inherited thrombophilia in ischemic stroke and its pathogenic subtypes. (6/74)BACKGROUND AND PURPOSE: One or more of the inherited thrombophilias may be causal risk factor for a proportion of ischemic strokes, but few studies have addressed this association or the association between thrombophilia and pathogenic subtypes of stroke. METHODS: We conducted a case-control study of 219 hospital cases with a first-ever ischemic stroke and 205 randomly selected community control subjects stratified by age, sex, and postal code. With the use of established criteria, cases of stroke were classified by pathogenic subtype in a blinded fashion. The prevalence of conventional vascular risk factors; fasting plasma levels of protein C, protein S, antithrombin III; and genetic tests for the factor V Leiden and the prothrombin 20210A mutation were determined in cases and control subjects. RESULTS: The prevalence of any thrombophilia was 14.7% (95% CI, 9.9% to 19.5%) among cases and 11.7% (95% CI, 7.4% to 17.0%) among control subjects (OR, 1.3; 95% CI, 0.7% to 2.3%). The prevalence of individual thrombophilias among cases ranged from 0.9% (95% CI, 0.1% to 3.4%) for protein S deficiency to 5.2% (95% CI, 0.3% to 9.1%) for antithrombin III deficiency; among control subjects, the prevalence ranged from 1.0% (95% CI, 0.1% to 3.6%) for protein S deficiency to 4.1% (95% CI, 0.2% to 7.8%) for antithrombin III deficiency. There were no significant differences in the prevalence of thrombophilia between cases and control subjects or between pathogenic subtypes of ischemic stroke. CONCLUSIONS: One in 7 patients with first-ever acute ischemic stroke will test positive for one of the inherited thrombophilias, but the relation is likely to be coincidental rather than causal in almost all cases, irrespective of the pathogenic subtype of the ischemic stroke. These results suggest that routine testing for thrombophilia in most patients with acute ischemic stroke may be unnecessary. Whether the thrombophilias may still be important in younger patients with ischemic stroke or in predicting complications (eg, venous thrombosis) and stroke outcome remains uncertain. (+info)
Mesenteric venous thrombosis: a changing clinical entity. (7/74)OBJECTIVE: Mesenteric venous thrombosis (MVT) and its clinical spectrum have become better defined following improvements in diagnostic imaging. Historically, MVT has been described as a morbid clinical entity, but this may not necessarily be true. Often, an underlying disease process that predisposes a patient to MVT can be found and potentially treated. This study was designed to evaluate the diagnostics and management of MVT and to review long-term results of treatment. PATIENTS: Thirty-one patients in whom MVT was diagnosed between 1985 and 1999 were retrospectively reviewed. Survivors were contacted for follow-up. There were 15 men and 16 women. Ages ranged from 22 to 80 years (mean, 49.1 years). Thirteen patients had documented hypercoagulability, 10 had a history of previous abdominal surgery, 6 had a prior thrombotic episode, and 4 had a history of cancer. MVT presented as abdominal pain (84%), diarrhea (42%), and nausea/vomiting (32%). Computed tomography (CT) was considered diagnostic in 18 (90%) of 20 patients who underwent the test. CT diagnosed MVT in 15 (100%) of 15 patients presenting with vague abdominal pain or diarrhea. Angiography demonstrated MVT in only five (55.5%) of nine patients. RESULTS: Seven of 31 patients died within 30 days (< 30-day mortality rate, 23%). Twenty-two patients (72%) were initially treated with heparin. Nine patients were not heparinized: four of them died, and two were later given warfarin sodium (Coumadin). Of the 31 patients, only one received lytic therapy. Three patients became symptom free without anticoagulation. Ten patients (32%) underwent bowel resection. Overall, 19 (79%) of 24 survivors were treated with long-term warfarin therapy. Long-term follow-up was obtained in 24 patients (mean, 57.7 months). Twenty-one (88%) of 24 survived in follow-up. CONCLUSION: The diagnosis of MVT should be suspected when acute abdominal symptoms develop in patients with prior thrombotic episodes or a documented coagulopathy. CT scanning appears to be the primary diagnostic test of choice. Anticoagulation is recommended. If diagnosed and treated early, MVT is not likely to progress to gangrenous bowel. Recent mortality rates for MVT are lower than previously published, perhaps because of earlier diagnosis and aggressive treatment or possibly because we now readily diagnose a more benign form of the disease, which is due to widespread use of CT scanning. (+info)
Recombinant human transgenic antithrombin in cardiac surgery: a dose-finding study. (8/74)BACKGROUND: Acquired antithrombin III (AT) deficiency may render heparin less effective during cardiac surgery and cardiopulmonary bypass (CPB). The authors examined the pharmacodynamics and optimal dose of recombinant human AT (rh-AT) needed to maintain normal AT activity during CPB, optimize the anticoagulant response to heparin, and attenuate excessive activation of the hemostatic system in patients undergoing coronary artery bypass grafting. METHODS: Thirty-six patients scheduled to undergo elective primary coronary artery bypass grafting and who had received heparin for 12 h or more before surgery were enrolled in the study. Ten cohorts of three patients each received rh-AT in doses of 10, 25, 50, 75, 100, 125, 175, or 200 U/kg, a cohort of six patients received 150 U/kg of rh-AT, and a control group of six patients received placebo. RESULTS: Antithrombin III activity exceeded 600 U/dl before CPB at the highest dose (200 U/kg). Doses of 75 U/kg rh-AT normalized AT activity to 100 U/dl during CPB. Activated clotting times during CPB were significantly (P < 0.0001) greater in patients who received rh-AT (844 +/- 191 s) compared with placebo patients (531 +/- 180 s). Significant (P = 0.001) inverse relations were observed between rh-AT dose and both fibrin monomer (r = -0.51) and D-dimer (r = -0.51) concentrations. No appreciable adverse events were observed with any rh-AT doses used in the study. CONCLUSIONS: Supplementation of native AT with transgenically produced protein (rh-AT) in cardiac surgical patients was well tolerated and resulted in higher activated clotting times during CPB and decreased levels of fibrin monomer and D-dimer. (+info)
People with ATIII deficiency may experience a range of symptoms, including:
* Prolonged bleeding after injuries or surgery
* Spontaneous bruising or petechiae (small red or purple spots on the skin)
* Nosebleeds or easy bruising
* Bleeding into the joints (hemarthrosis)
* Easy bleeding in the gastrointestinal tract
ATIII deficiency can be caused by inherited mutations in the ATIII gene or acquired due to certain medical conditions, such as liver disease, sepsis, or autoimmune disorders.
Diagnosis of ATIII deficiency involves blood tests to measure the level of antithrombin III activity and genetic testing to identify mutations in the ATIII gene. Treatment typically involves infusions of antithrombin III concentrates to replace the missing or abnormal protein, and management of underlying conditions that may be contributing to the deficiency.
In rare cases, individuals with severe ATIII deficiency may require regular infusions throughout their lives to prevent bleeding complications. However, with proper treatment and close monitoring, many people with ATIII deficiency can lead normal lives without significant limitations.
Protein S is a vitamin K-dependent protein that is produced in the liver and circulates in the blood. It works by inhibiting the activity of thrombin, a clotting factor that helps to form blood clots. In people with protein S deficiency, there may be an overactivation of thrombin, leading to an increased risk of blood clots forming.
Protein S deficiency can be caused by several factors, including genetic mutations, vitamin K deficiency, and certain medical conditions such as liver disease or cancer. It is usually diagnosed through a combination of clinical evaluation, laboratory tests, and imaging studies.
Treatment for protein S deficiency typically involves replacing the missing protein with intravenous immune globulin (IVIG) or recombinant human protein S. In some cases, medications that inhibit thrombin activity, such as heparins or direct thrombin inhibitors, may also be used to reduce the risk of blood clots forming.
Preventing protein S deficiency involves ensuring adequate intake of vitamin K through dietary sources or supplements, managing underlying medical conditions, and avoiding factors that can increase the risk of bleeding or thrombosis, such as smoking, obesity, and inactivity.
In summary, protein S deficiency is a condition characterized by low levels of protein S, which increases the risk of developing blood clots. It can be caused by several factors and treated with replacement therapy or medications that inhibit thrombin activity. Prevention involves ensuring adequate vitamin K intake and managing underlying medical conditions.
There are several types of thrombosis, including:
1. Deep vein thrombosis (DVT): A clot forms in the deep veins of the legs, which can cause swelling, pain, and skin discoloration.
2. Pulmonary embolism (PE): A clot breaks loose from another location in the body and travels to the lungs, where it can cause shortness of breath, chest pain, and coughing up blood.
3. Cerebral thrombosis: A clot forms in the brain, which can cause stroke or mini-stroke symptoms such as weakness, numbness, or difficulty speaking.
4. Coronary thrombosis: A clot forms in the coronary arteries, which supply blood to the heart muscle, leading to a heart attack.
5. Renal thrombosis: A clot forms in the kidneys, which can cause kidney damage or failure.
The symptoms of thrombosis can vary depending on the location and size of the clot. Some common symptoms include:
1. Swelling or redness in the affected limb
2. Pain or tenderness in the affected area
3. Warmth or discoloration of the skin
4. Shortness of breath or chest pain if the clot has traveled to the lungs
5. Weakness, numbness, or difficulty speaking if the clot has formed in the brain
6. Rapid heart rate or irregular heartbeat
7. Feeling of anxiety or panic
Treatment for thrombosis usually involves medications to dissolve the clot and prevent new ones from forming. In some cases, surgery may be necessary to remove the clot or repair the damaged blood vessel. Prevention measures include maintaining a healthy weight, exercising regularly, avoiding long periods of immobility, and managing chronic conditions such as high blood pressure and diabetes.
There are two main types of thrombophlebitis:
1. Superficial thrombophlebitis: This type of thrombophlebitis affects the superficial veins, which are located just under the skin. It is often caused by injury or trauma to the vein, and it can cause redness, swelling, and pain in the affected area.
2. Deep vein thrombophlebitis: This type of thrombophlebitis affects the deep veins, which are located deeper in the body. It is often caused by blood clots that form in the legs or arms, and it can cause symptoms such as pain, swelling, and warmth in the affected limb.
Thrombophlebitis can be caused by a variety of factors, including:
1. Injury or trauma to the vein
2. Blood clotting disorders
3. Prolonged bed rest or immobility
4. Surgery or medical procedures
5. Certain medications, such as hormone replacement therapy or chemotherapy
6. Age, as the risk of developing thrombophlebitis increases with age
7. Family history of blood clotting disorders
8. Increased pressure on the veins, such as during pregnancy or obesity
Thrombophlebitis can be diagnosed through a variety of tests, including:
1. Ultrasound: This test uses sound waves to create images of the veins and can help identify blood clots or inflammation.
2. Venography: This test involves injecting a dye into the vein to make it visible under X-ray imaging.
3. Blood tests: These can be used to check for signs of blood clotting disorders or other underlying conditions that may be contributing to the development of thrombophlebitis.
Treatment for thrombophlebitis typically involves anticoagulation therapy, which is designed to prevent the blood clot from growing larger and to prevent new clots from forming. This can involve medications such as heparin or warfarin, or other drugs that work by blocking the production of clots. In some cases, a filter may be placed in the vena cava, the large vein that carries blood from the lower body to the heart, to prevent clots from traveling to the lungs.
In addition to anticoagulation therapy, treatment for thrombophlebitis may also include:
1. Elevation of the affected limb to reduce swelling
2. Compression stockings to help reduce swelling and improve blood flow
3. Pain management with medication or heat or cold applications
4. Antibiotics if there is an infection
5. Rest and avoiding strenuous activities until the symptoms resolve.
In some cases, surgery may be necessary to remove the clot or repair the affected vein.
It's important to note that early diagnosis and treatment of thrombophlebitis can help prevent complications such as infection, inflammation, or damage to the valves in the affected vein. If you suspect you or someone else may have thrombophlebitis, it is important to seek medical attention promptly.
Antithrombin III deficiency
List of OMIM disorder codes
Heparin cofactor II
Superficial vein thrombosis
Fresh frozen plasma
List of MeSH codes (C16)
Multifocal stenosing ulceration of the small intestine
Pre-existing disease in pregnancy
Hypercoagulability in pregnancy
Feminizing hormone therapy
List of diseases (C)
Protein S deficiency
Deep vein thrombosis
List of MeSH codes (C15)
Activated protein C resistance
Cerebral venous sinus thrombosis
Acute fatty liver of pregnancy
Renal vein thrombosis
Pharmacodynamics of estradiol
Congenital antithrombin III deficiency: MedlinePlus Medical Encyclopedia
Antithrombin III Deficiency: Practice Essentials, Pathophysiology, Epidemiology
Antithrombin III deficiency - wikidoc
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- Once a patient with congenital antithrombin III deficiency has developed thrombosis, anticoagulation is more strongly indicated. (medscape.com)
- 3. [Hereditary deficiency of antithrombin III, protein C, protein S and factor XII in 121 patients with venous or arterial thrombosis]. (nih.gov)
- 4. [A family with venous thrombosis and hereditary antithrombin III deficiency]. (nih.gov)
- 6. Hereditary deficiency of antithrombin III, protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rational patient screening. (nih.gov)
- 17. Inherited antithrombin III deficiency in an Italian family, associated with venous and arterial thrombosis. (nih.gov)
- An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis. (nih.gov)
- Testing for prothrombotic conditions (including protein C, protein S, or antithrombin deficiency), antiphospholipid syndrome, prothrombin G20210A mutation, and factor V Leiden can be beneficial for the management of patients with CVT. (medscape.com)
- Antinuclear antithrombin, protein C, protein S or pres- antibodies were investigated with standard- ence of antiphospholipid antibodies, are ized enzyme-linked immunosorbent assay common in patients with retinal vein occlu- sions and may contribute to the etiology of (ELISA). (who.int)
- Common conditions that result in acquired antithrombin III deficiency include disseminated intravascular coagulation (DIC) , microangiopathic hemolytic anemias due to endothelial damage (ie, hemolytic-uremic syndrome ), veno-occlusive disease (VOD) (in patients undergoing bone marrow transplantation ), sepsis, liver disease, and nephrotic syndrome. (medscape.com)
- Antithrombin III is a protein in the blood that blocks abnormal blood clots from forming. (medlineplus.gov)
- The abnormal gene leads to a low level of the antithrombin III protein. (medlineplus.gov)
- This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). (medlineplus.gov)
- Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. (medlineplus.gov)
- Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. (medlineplus.gov)
- Brouwer JL, Lijfering WM, Ten Kate MK, Kluin-Nelemans HC, Veeger NJ, van der Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. (medlineplus.gov)
- By day 14 there had been a significant drop in protein C activity (mean of 95% of normal to 52%), protein C antigen (mean of 105% of normal to 70%), and antithrombin 3 activity (111% of normal to 83%), and an increase in fibrinogen (471-621mg/dl) and tissue plasminogen activator (6.9-13.8ng/ml). (nebraska.edu)
- The decreases in protein C and antithrombin 3 persisted through day 28 after transplantation. (nebraska.edu)
- Deficiencies in anticoagulant proteins antithrombin 3 and protein C and a rise in fibrinogen without a concomitant improvement in fibrinolytic variables create a potentially hypercoagulable state which may contribute to the thrombotic complications of autologous BMT. (nebraska.edu)
- Testing for protein C, protein S, and antithrombin deficiency is generally indicated 2-4 weeks after completion of anticoagulation. (medscape.com)
- Additional causes include inherent thrombophilic states, such as those caused by systemic lupus erythematosus, protein C or S deficiency, and antithrombin III deficiency. (jefferson.edu)
- Hereditary antithrombin deficiency is a disorder of blood clotting. (medlineplus.gov)
- In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. (medlineplus.gov)
- About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. (medlineplus.gov)
- Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. (medlineplus.gov)
- The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. (medlineplus.gov)
- Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. (medlineplus.gov)
- Hereditary antithrombin deficiency is estimated to occur in about 1 in 2,000 to 3,000 individuals. (medlineplus.gov)
- Of people who have experienced an abnormal blood clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. (medlineplus.gov)
- Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. (medlineplus.gov)
- 1. The prevalence of hereditary antithrombin-III deficiency in patients with a history of venous thromboembolism. (nih.gov)
- 8. Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. (nih.gov)
- 11. Hereditary antithrombin III deficiency and pregnancy: report of two cases and review of the literature. (nih.gov)
- 20. [Severe pulmonary embolism and recurrent thrombophlebitis caused by hereditary antithrombin III deficiency]. (nih.gov)
- Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. (medlineplus.gov)
- Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. (nih.gov)
- Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. (medlineplus.gov)
- Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal. (medlineplus.gov)
- Congenital antithrombin III deficiency is an inherited disease. (medlineplus.gov)
- Congenital antithrombin III deficiency is an autosomal dominant disorder in which an individual inherits one copy of the SERPINC1 (also called AT3 ) gene on chromosome 1q25.1, which encodes antithrombin III. (medscape.com)
- Severe congenital antithrombin III deficiency, in which the individual inherits two defective genes, is a rare autosomal recessive condition associated with increased thrombogenesis, typically noted in the neonatal period or early infancy. (medscape.com)
- It occurs when a person receives one abnormal copy of the antithrombin III gene from a parent with the disease. (medlineplus.gov)
- Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. (nih.gov)
- This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs. (medlineplus.gov)
- The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. (nih.gov)
- Hemostasis disorders, also known as bleeding disorders, can be broadly divided into three groups. (osmosis.org)
- Antithrombin III (ATIII) is a nonvitamin K-dependent protease that inhibits coagulation by neutralizing the enzymatic activity of thrombin (factors IIa, IXa, Xa). (medscape.com)
- We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency. (nih.gov)
- Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). (nih.gov)
- In these patients, replacement of antithrombin III using antithrombin III concentrates or fresh frozen plasma is recommended. (medscape.com)
- The study involved 58 VTE patients under age 45 years, 45 of whom had at least one inherited risk factor, including 14 with antithrombin III deficiency. (medscape.com)
- Incidence of factor XII deficiency in patients after recurrent venous or arterial thromboembolism and myocardial infarction]. (nih.gov)
- 12. [Plasma antithrombin III activity in patients with pulmonary thromboembolism]. (nih.gov)
- In patients with provoked CVT (associated with a transient risk factor), vitamin K antagonists may be continued for 3-6 months, with a target international normalized ratio of 2.0-3.0. (medscape.com)
- Eleven patients, eight (8) females and age over 40 years, obesity and the types of opera- three (3) males aged between 20 and 40 years with tion a patient undergoes. (who.int)
- Pro- els on long haul flights, the so called `economy longed sitting was the main factor in 9 out of class syndrome,2,3,4 where the cramped conditions eleven patients. (who.int)
- All the patients had dresser developed the condition after a three hour a full blood count, sickling test and clotting profile journey in a minibus and the 29 year old busi- performed. (who.int)
- Informed include lupus anticoagulant and anticardio- consent was obtained from patients and lipin antibodies [ 2,3 ]. (who.int)
- Antithrombin III activity is markedly potentiated by heparin, the principal mechanism by which both heparin and low-molecular-weight heparin result in anticoagulation. (medscape.com)
- Oral contraceptive use and even heparin administration have also been associated with antithrombin III deficiency. (medscape.com)
- they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). (nih.gov)
- [ 3 ] Validated clinical prediction rules should be used to estimate pretest probability of pulmonary embolism and to interpret test results. (medscape.com)
- 24(3): 681-693, 2022 03. (bvsalud.org)
- In antithrombin III deficiency, however, the activity of LMWH is not as reliable as in an otherwise healthy person. (medscape.com)
- As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. (nih.gov)
- A plasma alpha 2 glycoprotein that accounts for the major antithrombin activity of normal plasma and also inhibits several other enzymes. (nih.gov)
- Most affected neonates, however, have heterozygous antithrombin III deficiency rather than the homozygous state. (medscape.com)
- 1. A 38-year-old P1+3 presents after her third miscarriage for investigations. (studyebcog.com)
- Asparaginases are the cornerstones of treatment protocols for acute lymphoblastic leukemia (ALL), it has been an integral part of combination chemotherapy protocols of pediatric acute lymphoblastic leukemia for almost 3 decades and in the majority of adult treatment protocols. (scialert.net)
- Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. (nih.gov)
- 3 = A condition for which the theoretical or proven risks usually outweigh the advantages of using the method. (cdc.gov)
- The clinical significance of antithrombin III]. (nih.gov)
- 7. [Factor XII (Hageman factor) deficiency: a risk factor for development of thromboembolism. (nih.gov)
- Evidence is inconsistent about whether CHC use affects fracture risk ( 34 - 45 ), although three recent studies show no effect ( 34 , 35 , 45 ). (cdc.gov)