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PubMed1988

AT III Barcelona: a familial quantitative-qualitative AT III deficiency.

A quantitative and qualitative deficiency of antithrombin III (ATIII) was found in four members of a Spanish family with thrombotic tendency. In all affected members, levels of ATIII antigen and activity (heparin cofactor activity) were reduced to 50% of the normal range. When crossed immunoelectrophoresis (CIE) was performed in the presence of heparin, an abnormal slow-moving peak was found. Crossed immunoelectrofocusing (CIEF) from normal and affected individuals showed that normal ATIII migrated between pH 4.9-5.3 while the ATIII under study was asymmetrically distributed between two pH ranges: 4.9-5.3 and 4.6-4.8. Affinity adsorption of affected members' plasma to heparin-sepharose beads revealed one population of ATIII in the supernatant corresponding to the abnormal ATIII, devoid of heparin cofactor activity and showing a peak between pH range: 4.6-4.8 in CIEF. Our data supports the view that a quantitative-qualitative deficiency was present in the heterozygous state in all the affected family members. Both normal and abnormal ATIII were present in plasma of the affected individuals. This abnormal ATIII was characterized by a lack of affinity for heparin. This familial ATIII deficiency was named ATIII Barcelona.

Adult↗
PubMed2004

Renovascular hypertension due to antithrombin deficiency in childhood.

Inherited antithrombin deficiency generally causes a predisposition toward vascular thrombus above the age of 15 years. A 1-year-old boy developed renal hypertension caused by renal artery obstruction due to thrombus formation. This thrombus formation was attributed to antithrombin deficiency caused by a novel SERPINCI gene mutation (AT III Akita, M352R). This suggests that antithrombin deficiency can cause renal artery obstruction, inducing renal hypertension through vascular thrombosis even in children.

Antithrombin III Deficiency↗
PubMedDate not supplied

Clinical studies on plasma antithrombin III using an antiserum prepared in our laboratories.

Using an antiserum obtained in rabbits injected with antithrombin III purified in our laboratories, the plasma level of this inhibitor of coagulation was found to be significantly (p less than 0.001) decreased in 8 patients with decompensated cirrhosis of the liver (15.66 mg/dl +/- 2.22) and in 18 nephrotic patients (21.74 mg/dl +/- 1.75). When compared to values noted in 22 normal-weight normolipidemic control subjects (31.54 mg/dl +/- 0.81), the plasma level of antithrombin III was slightly (p less than 0.05) higher in the 18 hyperlipidemic subjects (36.11 mg/dl +/- 1.9). Owing to an extremely wide dispersion of individual values, the mean level of antithrombin III noted in 16 critically ill postoperative patients (28.16 mg/dl +/- 2.98) did not significantly differ from control values, although this protease inhibitor was obviously decreased in those postoperative patients who developed multiple organ failure or disseminated intravascular-coagulation. Among the 11 patients with recurrent venous thrombosis, two subjects with familial deficiency in antithrombin III were detected. The results provide evidence that the antiserum prepared in our laboratories is a useful tool for detecting acquired and inherited antithrombin III deficiencies.

Adult↗
PubMed1997

High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan.

We studied the prevalence of antithrombin III (AT III), protein C (PC) and protein S (PS) deficiencies and factor V Leiden mutation in thrombophilia in Taiwan. Eighty-five consecutive and unrelated patients with otherwise unexplained venous thrombophilia were studied. Both antigen and activity of inhibitors were determined using commercial kits (Stago), activated PC sensitivity ratio (APC SR) by Coatest (Chromogenix), and factor V mutation by polymerase chain reaction with sequence specific primer. Of 85 patients, 41 were male, 44 female, and mean age 49.4 years (17-82 years). None had factor V mutation, or APC SR of less than 2; 50 (58.8%) showed a deficiency of inhibitor proteins; 34 (68.0%) were hereditary, 16 (32.0%) non-hereditary; 3 had an AT III deficiency, 16 a PC deficiency, 28 a PS deficiency, and 3 a combined deficiency. Thirty-five were non-deficient without a known cause. The average age at the first thrombotic episode was 48.5 years (13-81 years). Thrombosis occurred spontaneously in 39 (78.0%) of 50 deficient patients. In conclusion, a relatively higher prevalence of AT III, PC and PS deficiency (59%), but no factor V Leiden mutation, was found in venous thrombophilic Chinese patients in Taiwan compared to that in western countries. Screening for inhibitor protein deficiency in Chinese thrombophilic patients is highly recommended.

Adolescent↗
PubMed1992

Antithrombin III concentrates.

The general characteristics of antithrombin III (AT III) concentrates available in the United States are described in this article. The effectiveness of AT III concentrates in the prevention and treatment of thrombotic episodes in patients with hereditary AT III deficiency are summarized, and the use of this product in various conditions with acquired AT III deficiency are reported.

Antithrombin III↗
PubMed1994

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

Inherited type 1 antithrombin (AT) III deficiency is characterized by a decrease of immunoreactive and functional protein levels to about 50%. The disorder is associated with a significantly increased risk of thromboembolism. We have investigated the molecular basis of type 1 AT deficiency in a Belgian family. The diagnosis of the disease was primarily made in a newborn girl with unusually severe thrombotic complications. Using the polymerase chain reaction and single-strand conformation polymorphism analysis, followed by direct sequencing of AT gene fragments, we identified a novel point mutation in exon 6. We detected a G to C substitution in the first position of codon 424 leading to a glycine to arginine substitution. The modification at this highly conserved position in the serine protease inhibitor gene family probably leads to an unstable mutant-gene product. The mutation creates a unique restriction site for the enzyme Hha I in exon 6. This change permitted a rapid and accurate screening of the kindred with identification of the molecular defect in five other family members.

Adult↗
PubMed2000

Flow cytometric analysis of autonomous growth of erythroid precursors in liquid culture detects occult polycythemia vera in the Budd-Chiari syndrome.

BACKGROUND/AIMS: Hepatic vein thrombosis (Budd-Chiari syndrome) is associated with various hypercoagulable states, such as polycythemia vera (PV), presence of the lupus anticoagulant, paroxysmal nocturnal hemoglobinuria (PNH) and deficiencies of antithrombin III, protein C and protein S. In recent years, it has become evident that patients with the Budd-Chiari syndrome may have more than one risk factor that may cause a state of hypercoagulability. The aim of the current study was to assess the prevalence of occult PV in patients with Budd-Chiari syndrome using a novel method for the detection of spontaneous erythroid growth. METHODS: Twenty-two patients with Budd-Chiari syndrome were evaluated. As controls, we studied normal donors and four patients with liver cirrhosis and five patients with right-side heart failure, two conditions that in part mimic Budd-Chiari syndrome. The presence of PV was determined by flow cytometric analysis of autonomous growth of erythroid precursors. Patients were considered as having occult PV if they had spontaneous erythroid cell growth in the absence of erythropoietin and with no features of overt PV. RESULTS: Cells from ten patients with Budd-Chiari syndrome demonstrated spontaneous erythroid cell growth; eight patients (32%) were found to have occult PV and two patients had overt PV. None of the controls had spontaneous erythroid growth. Of the eight Budd-Chiari patients with occult PV, six had one or more additional recognized hypercoagulable states. 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. Three patients (14%) were homozygous to methyltetra hydrofolate reductase and ten (45.5%) were heterozygous. One patient had PNH. Overall, in 12 patients there were two or more combined risk factors. CONCLUSIONS: Using a flow cytometric analysis of autonomous growth of erythroid precursors we found a clear correlation between Budd-Chiari syndrome and occult PV.

Adult↗
PubMed1983

[The physiological inhibitors of blood coagulation. 1. Antithrombin III (AT III)].

In a brief survey, recent data on the molecular structure and functions of antithrombin III as well as on the similarity of identity with antithrombin III of newborns and mammals are referred to. Moreover, the survival time in circulation and its broad inhibiting spectrum comprising not only all activating factors of coagulation, but also other proteases, is discussed. The accelerating effect of heparin on response and possible mechanisms of this acceleration are discussed. The various procedures of determination are briefly dealt with. Furthermore, the distinct tendency towards thromboembolic complications occurring in patients with only a slight reduction of antithrombin III level is dealt with, as it was described in inherited and acquired deficiency of antithrombin III. Finally, the possibilities of therapy for this deficiency are discussed and is underlined on the key position of antithrombin III for maintaining the balance of coagulation.

Antithrombin III↗
PubMedDate not supplied

Deficiency of plasma protein S, protein C, or antithrombin III and arterial thrombosis.

Protein C and protein S are vitamin K-dependent coagulation factors that together act as an anticoagulant, and antithrombin III is a plasma protein that inhibits several activated factors in the coagulation cascade. Although deficiencies of any of these three proteins have been associated with deficiencies of these factors. We report one patient with a protein S deficiency, another with a protein C deficiency, and a third with an antithrombin III deficiency, each of whom who had extensive arterial thrombosis. We suggest that deficiencies of these proteins may constitute risk factors for arterial thrombosis.

Adult↗
PubMed2001

Frequency of natural coagulation inhibitor (antithrombin III, protein C and protein S) deficiencies in Japanese patients with spontaneous deep vein thrombosis.

One hundred and thirteen consecutive Japanese patients with deep venous thrombosis (DVT) were studied for the incidences of antithrombin III (AT-III), protein C (PC) and protein S (PS) deficiencies, and the results were compared with those of normal subjects. Ten of the 392 normal Japanese subjects were found with PS deficiency (n = 8, 2.02%) or PC deficiency (n = 2, 0.5%). PS deficiencies comprised type I (1/8, 12.5%), type 11 (4/8, 50%), and type III (3/8, 37.5%). All PC deficiencies were type I. Among patients with DVT, 32 (28.3%) were deficient in AT-III, PC and PS. These patients consisted of two AT-III deficiency (1.77%), nine PC deficiency (7.96%), 20 PS deficiency (17.7%), and one combined deficiency of PC and PS (0.88%). Both of the patients with AT-III deficiency were classified as type II, all those with PC deficiency as type I, and those with PS deficiency as type I in 25% (5/20), type II in 55% (11/20) and type III in 20% (4/20). The frequency of PC and PS deficiencies in patients with DVT were 15.6 and 7.38 times the control population frequency, respectively, and this difference was statistically significant (P < 0.05). These data suggest that the Japanese population has a high frequency of PC and PS deficiencies. We recommend that PS activity should be measured for screening of thrombosis since type II deficiency accounted for approximately 50% of PS deficiency cases in both patients and the normal group in the Japanese.

Adolescent↗
PubMed1987

Laboratory screening of inherited thrombotic syndromes.

The prevalence of inherited thrombotic syndromes in the general population (1 in 2,500/5,000) appears to be higher than that of inherited bleeding disorders. The problems of their laboratory diagnosis are reviewed and a screening procedure is proposed. The most important candidates for screening are patients with unexplained venous thromboembolism at ages of less than 40-45 years, particularly when thrombotic episodes are recurrent. Screening must start from the exclusion of common acquired causes of thrombophilia. A negative family history does not exclude inherited thrombophilia, because the defects have a low penetrance and fresh mutations may have occurred in the propositi. Laboratory screening is based on a two-step procedure. The first step is aimed at detecting, preferably with specific functional assays, the most frequent and well established causes of inherited thrombophilia, i.e. deficiencies or dysfunctions of antithrombin III, protein C, protein S, plasminogen and fibrinogen. The tests included in the second step of the screening are aimed at detecting the less common or less well established causes of inherited thrombophilia (low heparin cofactor II, defective release of tissue plasminogen activator, and high plasminogen activator inhibitor). The simplest, more reliable and specific assay methods to be used in laboratory practice are recommended.

Adult↗
PubMed1996

Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors.

A cooperative, retrospective study was performed on data from 8 coagulation laboratories and thrombosis units in Austria, Germany, and Switzerland to assess the risk for thrombosis in patients with hereditary antithrombin III (AT-III), protein C (PC), and protein S (PS) deficiencies; to compare the clinical manifestations of these 3 deficiency states; and to estimate the risk for development of thrombosis in high-risk situations. Two hundred thirty patients from 71 families with a documented hereditary deficiency of a natural coagulation inhibitor were included in the study. The patient group comprised 69 patients from 25 families with AT-III deficiency, 86 patients from 27 families with PC deficiency, and 75 patients from 19 families with PS deficiency. Diagnosis of the deficiency state was made at each participating center. Clinical data were documented in a questionnaire that was completed during each patient's visit to the participating center. The questionnaires were sent to the coordinating center (Vienna) and analyzed centrally. The probability of developing thrombosis was 80% to 90% for all deficiency states by 50 to 60 years of age, and this figure did not change considerably after data from the propositi were excluded. AT-III-deficient females developed thrombosis earlier in life compared with PC- and PS-deficient females due to a high thrombotic risk during pregnancy (40% in patients with AT-III deficiency) and oral contraceptive use. The clinical features of thromboembolism were similar in the three deficiency states except for a higher frequency of superficial thrombophlebitis in patients with PC and PS deficiencies. Mesenteric vein thromboses occurred in 4% to 10% of patients and in 2 of 8 patients as a recurrent event. The recurrence rate was 63% (60% of recurrent events occurred spontaneously) and did not differ significantly among the three deficiency states. Before 14 years of age only 1 of 80 surgical procedures and 0 of 21 leg injuries were followed by thrombosis. After 14 years of age thromboembolic events occurred after abdominal surgery or leg injury in one third of patients. Between 40% and 50% of symptomatic patients reported that they felt handicapped by a postthrombotic syndrome. We conclude that diagnosis of a coagulation inhibitor deficiency state should be made before 14 years of age. During childhood thrombosis prophylaxis cannot be regularly recommended but should be instituted after 13 years of age during/after abdominal surgery, including appendectomy, and after leg injury in AT-III-, PC-, and PS-deficient patients. The high recurrence rate (60% spontaneous recurrence) and the relatively high frequency of mesenteric vein thrombosis as a recurrent event favor introduction of long-term oral anticoagulant treatment after the first thrombotic event in patients with a documented hereditary deficiency of AT-III, PC, or PS.

Adolescent↗
PubMed1996

[Significance of hereditary thrombophilia for risk of thrombosis with oral contraceptives].

Oral contraceptives increase the natural incidence of venous thromboses of 1-2/10,000 women per year 3-to 4fold. Recent investigations have shown that during intake of desogestrel or gestodene containing formulations the risk is twice that with older low-dose ovulation inhibitors. This difference is larger in first time users than in women who had previously used an oral contraceptive. During pregnancy, the incidence of thromboses rises up to 10/10,000 women-years and post partum up to 40/10,000 women-years. In about 60 % of thromboses no causal explanation can be found. It is suggested that in 40 % of all cases an inherited thrombophilia is present. Among the hereditary types of thrombophilia, the resistance against activated protein C (APC-resistance) represents nearly 50 %, while altogether 15 to 20 % is based on a deficiency of antithrombin III, protein C or protein S. APC-resistance the prevalence of which is 3-5 % in the general population, increases the risk of thrombosis 8fold and in users of oral contraceptives 35fold. Protein C-deficiency (prevalence 0.1-0.5 %) increases the risk of thrombosis 9fold and in users of oral contraceptives 15fold, while antithrombin III-deficiency (prevalence 0.02-0.05 %) enhances the risk in pill-users 8fold. Ovulation inhibitors do not influence risk of thrombosis in women with protein S-deficiency. Antiphospholipid-antibodies the concentration of which may increase during treatment with oral contraceptives, represent a considerably enhanced risk of thrombosis, too. A positive family history (before age of 40 years) indicates an inherent thrombophilia. In these risk groups, the cost/benefit ratio of a selective screening is unfavorable, as at most 70 % of the hereditary thrombophilias can be diagnosed by laboratory analysis, and only very few patients will actually experience a thrombotic event: only 3 of 1000 carriers of APC-resistance will suffer from thrombosis during oral contraception per year. On the other hand, a negative result of laboratory tests does not exclude a hereditary thrombophilic disorder which as yet cannot be substantiated. It is not yet clarified whether a selective screening is superior to a careful assessment of individual and family history. A general screening cannot be justified because of the unfavorable cost/benefit ratio. If the individual or family history or pathological laboratory parameters indicate an enhanced risk of thrombosis, this risk has to be carefully weighed against the consequences of discontinuation of pill use. Those few individuals with risk factors who will experience a thrombosis, cannot be identified in advance. If in patients with thrombophilic disorders and/or other risk factors the use of oral contraceptives represents a particularly high risk, other contraceptive methods should be taken into consideration. If a patient with risk factors decides for the use of oral contraceptives, she has to be informed that in the case of symptoms indicating a thrombosis, the physician has to be consulted immediately. The earlier an appropriate therapy is initiated, the more effectively an acute pulmonary emboli or permanent damages, e.g. the post-thrombotic syndrome, can be prevented.

Adult↗