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PubMed1992

Congenital antithrombin III deficiency causing mesenteric venous infarction: a lesson to remember--a case history.

Congenital antithrombin III deficiency is an uncommon but important cause of venous thrombosis, usually presenting with recurrent or atypical venous thromboembolism. Its importance lies in the fact that early recognition can lead to treatment in the acute stage, which can prevent propagation of the disease, and further prophylactic treatment may reduce the incidence of further episodes. The authors present a case of mesenteric venous infarction associated with congenital antithrombin III deficiency and briefly discuss the diagnosis, surgical implications, and treatment of this disorder.

Antithrombin III Deficiency↗
PubMedDate not supplied

Antithrombin III deficiency.

Data on clinical features and laboratory diagnosis of familial antithrombin deficiency, a rather heterogeneous group of disorders, are illustrated by observations on two Romanian kindreds afflicted by recurrent thrombotic episodes. In a first family, both plasma antithrombin III antigen and activity were reduced to 50% of normal, a condition characteristic for a heterozygous type I (quantitative) familial antithrombin III deficiency. In a second kindred, the two brothers who had experienced thrombotic events since they were teenagers, displayed exceedingly low AT III heparin cofactor activity (13% and 16% of the normal, respectively) while values around 50% of the normal were recorded in their parents who had not experienced thrombotic episodes. Since plasma antithrombin III antigen and total progressive antithrombin III activity were within normal limits in all the investigated members of this family it was considered that the two brothers were homozygotes or compound heterozygotes and the parents were heterozygotes for a qualitative-antithrombin III deficiency caused by an abnormality of the heparin binding site.

Adolescent↗
PubMed1992

Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review.

PURPOSE: To estimate the prevalence of objectively proven thrombotic complications in antithrombin-III-deficient persons. STUDY DESIGN: Cross-sectional study and a critical review of the literature. DATA SOURCES AND EXTRACTION: The prevalence of thrombosis in antithrombin III-deficient and -nondeficient family members of a large kindred was estimated by history, review of diagnostic tests, and examination for venous reflux by Doppler ultrasonography, as an indicator of previous venous thrombosis. A MEDLINE search and literature review of the published English- and French-language literature from 1966 to 1990 that described antithrombin-III-deficient families was done, and the following information was obtained: the prevalence of thrombosis in deficient and nondeficient family members, the presence or absence of risk factors for thrombosis (surgery, pregnancy, the postpartum state, use of oral contraceptives, immobilization, metastatic cancer, major trauma) at the time of the thrombotic event, and age of onset of the first episode of thrombosis. The validity of the studies was assessed according to predetermined criteria. RESULTS: Sixty-seven research subjects were evaluated. Six of 31 (19.4%) antithrombin-III-deficient subjects compared with none of 36 (0%) nondeficient subjects had had one or more thrombotic events. The initial episode in five of six subjects had occurred in association with risk factors for thrombosis. The literature search indicated that the pooled prevalence of symptomatic venous thrombosis among the deficient subjects was 51%, but objective testing was done in only 17% of these subjects at the time of presentation. CONCLUSION: Based on the data from this antithrombin-III-deficient kindred, lifelong anticoagulant prophylaxis does not appear to be warranted in asymptomatic carriers, and prophylaxis could be limited to periods of high risk for thrombosis.

Adolescent↗
PubMed1981

Hereditary antithrombin III deficiency in an English family.

A family including four members with decreased antithrombin III (ATIII) measured by a biological and an immunological method is described. Immunologically measured levels of other coagulation inhibitors were normal. In the antithrombin III deficient family members there was a history of thrombotic disease. Turnover of 125I-antithrombin III in a deficient individual showed the lower plasma levels probably to be due to a deficiency in the rate of synthesis rather than to an increased catabolic rate.

Adult↗
PubMed1998

[Postpartum cerebral thrombophlebitis. A case secondary to acquired antithrombin III deficiency].

The cerebral thrombophlebitis is a rare complication of the pregnancy and the postpartum. We report a case of a 21 year-woman presenting a post-partum cerebral thrombophlebitis, secondary to an acquired deficiency of antithrombin III. The clinical symptoms of cerebral thrombophlebitis can be misleading. The angiography and the magnetic resonance imaging permit the diagnosis. The treatment is relied on anticoagulating heparin therapy. This treatment will be adapted in case of coagulation's factors deficiency that must be searched in any thromboembolic accident having an unusual localization.

Adult↗
PubMed1997

[Mesenteric venous thrombosis and antithrombin III deficiency: diagnosis before an acute digestive hemorrhage].

Mesenteric venous thromboses are often associated with antithrombin III deficiency. We can suspect this clinical diagnosis in patients with nonspecific abdominal pain syndrome and personal or familial history of mesenteric venous thrombosis. We report the case of a 63-old-male caucasian with antithrombin III deficiency and rectal bleeding who was diagnosed with mesenteric venous thrombosis at exploratory laparotomy. This case emphasizes the necessity of a careful history in all patients without an obvious diagnosis. In this way, we can invoke the diagnosis of mesenteric venous thrombosis quickly and begin the heparin therapy while waiting for the results of further confirmatory tests.

Antithrombin III Deficiency↗
PubMed1987

Antithrombin III deficiency: clinical relevance and replacement therapy.

Inherited antithrombin III (ATIII) deficiency causes a life-long tendency to venous thromboembolism, which is often recurrent and may be life-threatening. In contrast, the clinical importance of acquired ATIII deficiency, whether spontaneous or associated with estrogen-containing oral contraceptive treatment, remains uncertain. Moderately reduced ATIII activity before or immediately after surgery is neither sensitive nor specific for a high risk of postoperative venous thromboembolism (VTE), while moderately reduced ATIII activity during heparin treatment for VTE fails to indicate an unusually large heparin requirement or to predict recurrence. In the absence of good clinical trials, the value of ATIII replacement therapy also remains obscure; its use in congenital deficiency is largely based on anecdote, and while it may cause more rapid correction of the hemostatic defect in patients with disseminated intravascular coagulation (DIC), any improvement in morbidity or mortality resulting from ATIII replacement remains to be demonstrated.

Antithrombin III↗
PubMedDate not supplied

Myocardial infarction in a neonate with hereditary antithrombin III deficiency.

We report the case of a newborn girl with antithrombin III deficiency type 1. The clinical features of a hypercoagulable condition that lead to this rare diagnosis differed from the reports in the literature, since the primary thromboembolic incident resulted in neonatal myocardial infarction, which is in itself a rare condition during the first days of life.

Antithrombin III Deficiency↗
PubMed1983

False assignment of familial antithrombin III deficiency with the von Kaulla assay.

As a serum assay, the von Kaulla assay for antithrombin III has been criticized on the grounds that consumption of antithrombin III during in vitro blood clotting may lead to falsely low assay values. Use of the assay to screen a Utah pedigree for familial antithrombin III deficiency lends support to this criticism. In all, the assay was performed on 150 persons. Low values on the assay were corroborated by performing an alternative coagulation assay, an amidolytic assay, and an immunoassay. While all persons with historic evidence for a diagnosis of familial antithrombin III deficiency had low assay values, eight of 23 persons with low values had normal values on the other assays.

Adolescent↗
PubMed1980

[Familial thromboembolic disease associated with antithrombin III deficiency (author's transl)].

The authors report the observation of a new kindred with hereditary antithrombin III deficiency. In the last three generations, the family comprised 10 subjects, 7 of whom were affected: the grandmother had recurrent thrombophlebitis; her three sons died from pulmonary embolism at 22, 26 and 28 respectively and her daughter had repeated bouts of thrombophlebitis. In patients with hereditary antithrombin III deficiency, venous thrombosis occurs under similar conditions as, and is clinically similar to, thrombosis in patients without this defect. Usual tests of hemostasis are normal. The diagnosis is however suspected through an history of recurrent episodes and of similar cases in relatives. The diagnosis is confirmed by demonstration of low levels of antithrombin III in suspected patient and family. The disease is transmitted as autosomic dominant trait. Heparin is ineffective but oral anticoagulants may prevent occurence or recurrence of thrombosis in patients with this genetic defect.

Adult↗
PubMed1987

Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency.

Molecular genetic techniques were utilized to examine antithrombin III (ATIII) gene status in 16 independently ascertained kindreds with hereditary ATIII deficiency. In one of these families antithrombin III deficiency is caused by hemizygosity of the ATIII locus. In the remaining 15 kindreds, two copies of the ATIII gene are present and appear to be grossly normal at the level of whole genome Southern blotting, suggesting that small deletions, insertions or limited nucleotide substitution(s) in the antithrombin III gene, or "trans-acting" defects at other loci involved in the processing, modification, and secretion of biologically active ATIII are responsible for the observed anticoagulant disorders.

Antithrombin III↗
PubMed1977

Antifactor Xa activity in thrombophilia. Studies in a family with Ar-III deficiency.

Antithrombin III (At-III) concentration and amidolytic assays reflecting functions of the At-III molecule were studied in members of a family with a strong tendency to thrombosis. Antifactor Xa and heparin cofactor activity closely parallel at At-III concentration. In all individuals with a history of thrombosis At-III concentration was about 50% of normal. The clinical features and causes of death are briefly reviewed. Mean age in deceased family members with a tendency to thrombosis was 55 years, in members with no history of thrombosis it was 65 years.

Adult↗
PubMed1976

Severe antithrombin III deficiency in an infant associated with multiple arterial and venous thromboses.

Inherited antithrombin III (AT-III, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-III level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 mu to 30 muin diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in alpha 1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-alpha 1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology. The available data presented are insufficient to distinguish between an inborn defect and acquired caused of the severely depressed AT-III plasma level and the distinctive liver pathology.

Alpha-Globulins↗
PubMed1975

Inherited antithrombin-III deficiency causing mesenteric venous infarction: a new clinical entity.

Primary superior mesenteric venous thrombosis is sometimes preceded by peripheral thrombophlebitis. Inherited antithrombin-III deficiency is a recently recognized autosomal dominant trait, which is characterized by thrombophlebitis and pulmonary embolism. This case report illustrates many features of both entities and strongly suggest a causal relationship. While long-term therapy has yet to be established, prophylactic therapy is recommended when asymptomatic individuals with known antithrombin-III deficiency are at increased risk of thrombosis. The efficacy of heparin alone has been unreliable, whereas Coumadin has been encouraging. Antithrombin-III concentrates are being developed and theoretically should be helpful. Patients with thrombophlebitis or pulmonary embolism should be suspected of having antithrombin-III deficiency. Such individuals also represent one mechanism to explain "primary" mesenteric venous thrombosis.

Adult↗
PubMedDate not supplied

Antithrombin III deficiency in a Romanian family. Pathogenic role of concomitantly increased plasma level of clotting factors VII and X.

Antithrombin III deficiency in a Romanian family is presented. The propositus, a 27 year-old man, had a history of recurrent venous thrombosis and was found to present a plasma antithrombin III level of only 50% of the normal values. His mother and two of his five children had low antithrombin III levels but no episodes of venous thrombosis. In opposition to his family members, the propositus presented overweight, slight hypertriglyceridemia and displayed a high level of clotting factors VII and X. The findings suggest that development of thromboembolic disease in a subject with familial antithrombin III deficiency is enhanced by additional factors, for example by an increased plasma level of vitamin K-dependent clotting factors.

Adult↗
PubMed1991

Congenital antithrombin III deficiency (AT-III Kyoto): identification of a point mutation altering arginine-406 to methionine behind the reactive site.

A Japanese patient with congenital antithrombin III (AT-III) deficiency, named AT-III Kyoto, is associated with reduced levels (60% of normal) of AT-III antigen, progressive activity and heparin cofactor activity. The antithrombin III gene of this patient was investigated by polymerase chain reaction (PCR) method followed by direct DNA sequencing analysis, which revealed a G to T transitional mutation resulting in the conversion of arginine-406 to methionine in exon 6. Arginine-406 is located at the 12th amino acid residue from the reactive site on the C-terminal side of AT-III in a core region of the molecule which has been highly conserved during evolution of serine protease inhibitor (serpin) family. It is concluded that AT-III Kyoto is a newly described mutation which is similar to AT-III Utah and lends support to the idea that the conserved region near the reactive site is important in maintaining biological function of the AT-III molecule.

Adult↗