The prevalence of hereditary antithrombin-III deficiency in patients with a history of venous thromboembolism

SummaryAntithrombin III (ATIII) deficiency is one of the few known abnormalities of the coagulation system known to predispose to venous thromboembolism but its relation to arterial disease is not established. We describe two related patients with this disorder, both of whom suffered arterial thrombotic events, at an early age. Both patients had other potential risk factors, though these would normally be considered unlikely to lead to such catastrophic events at such an age. Thrombosis due to ATIII deficiency is potentially preventable, and this diagnosis should be sought more frequently in patients with arterial thromboembolism, particularly if occurring at a young age. In addition, in patients with known ATIII deficiency, other risk factors for arterial disease should be eliminated, if possible. In particular, these patients should be counselled against smoking.

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The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

Thrombosis and Haemostasis ◽

10.1055/s-0038-1660123 ◽

1985 ◽

Vol 54 (04) ◽

pp. 744-745 ◽

Cited By ~ 29

Author(s):

R Vikydal ◽

C Korninger ◽

P A Kyrle ◽

H Niessner ◽

I Pabinger ◽

...

Keyword(s):

Venous Thrombosis ◽

Antithrombin Iii ◽

Positive Family History ◽

Normal Range ◽

The Family ◽

History Of ◽

Antithrombin Iii Deficiency ◽

Recurrent Venous Thrombosis ◽

Antithrombin Iii Activity ◽

Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

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Antithrombin III Deficiency in a Japanese Family

10.1055/s-0039-1684570 ◽

1979 ◽

Author(s):

M. Nakagawa ◽

T. Kawamura ◽

H. Tsuji ◽

Y. Okajima ◽

S. Urano ◽

...

Keyword(s):

Antithrombin Iii ◽

Sinus Thrombosis ◽

Elevated Serum ◽

Peptic Ulcers ◽

Autosomal Dominant Disorder ◽

Japanese Family ◽

Vein Thrombosis ◽

Chromogenic Assay ◽

History Of ◽

Antithrombin Iii Deficiency

Antithrombin III has been reported to be decreased in the cases of several thrombotic disorders and the decreased Antithrombin III is known to induce the hypercoagulable state. This study was started from the 28 year-old male patient who developed the superior sagital sinus thrombosis after appendectomy and it was followed by deep vein thrombosis of extremities. Antithrombin III level was 19 mg/dl and activity was 68% by the progressive antithrombin assay and other laboratory examinations were within normal range excepts for the elevated serum lipids. Antithrombin III was assayed for his family members in three consecutive generations by single radial immunodifusion method, coagulation assay, and chromogenic assay. Four out of eight members were confirmed to have low Antithrombin III level and activity ranging from 59%-68% of normal values, although the two of this four members had no history of thrombosis. Mother of this propositus is deceased, but it was suspected of having the defect of Antithrombin III. History of peptic ulcers were found in all members of this family. The inheritance pattern of Antithrombin III deficiency was characteristic of an autosomal dominant disorder.

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Prevalence of antithrombin III deficiency in blood donors selected for personal or familial history of venous thrombosis

La Ricerca in Clinica e in Laboratorio ◽

10.1007/bf03029836 ◽

1985 ◽

Vol 15 (2) ◽

pp. 173-176

Author(s):

Guido Finazzi ◽

Eneina Radice ◽

Antonino Armato ◽

Tiziano Barbui

Keyword(s):

Venous Thrombosis ◽

Blood Donors ◽

Antithrombin Iii ◽

Familial History ◽

History Of ◽

Antithrombin Iii Deficiency

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Platelet Antithrombin Deficiency: A New Clinical Entity

10.1055/s-0039-1682654 ◽

1977 ◽

Author(s):

J.L. Tullis ◽

K. Watanabe

Keyword(s):

Antithrombin Iii ◽

Family Members ◽

Clinical Entity ◽

Clear Relationship ◽

Secondary Effect ◽

Antithrombin Deficiency ◽

Consistent Effect ◽

History Of ◽

Antithrombin Iii Deficiency ◽

Immunologic Assay

A kindred with a history of multiple thromboses was studied for coagulant abnormalities. A deficiency of plasma antithrombin III was found in approximately half of the 13 family members by either coagulant or immunologic assay. No clear relationship between plasma antithrombin III deficiency and a history of thrombosis was present. Platelet antithrombin assays were studied in the same family. Ten of the 13 members were deficient. None of the three who was normal had a history of thrombosis. The plasma antithrombin III assays could be influenced by heparin or coumarin treatment. The same medications were without consistent effect on platelet antithrombin. On the basis of these findings, it is proposed that familial hypercoagulability in some cases may be due to a platelet antithrombin deficiency and that the plasma antithrombin III deficiency is a secondary effect.

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Inherited Antithrombin III Deficiency and Cerebral Thrombosis in a Child

PEDIATRICS ◽

10.1542/peds.65.1.125 ◽

1980 ◽

Vol 65 (1) ◽

pp. 125-131

Author(s):

Daniel R. Ambruso ◽

Linda J. Jacobson ◽

William E. Hathaway

Keyword(s):

Antithrombin Iii ◽

Index Case ◽

Cerebral Thrombosis ◽

Recurrent Thrombosis ◽

Normal Pattern ◽

Crossed Immunoelectrophoresis ◽

Warfarin Sodium ◽

At Iii ◽

History Of ◽

Antithrombin Iii Deficiency

Identification of a family affected by antithrombin III-heparin cofactor (AT-III) deficiency was made after diagnosis of the index case, a 15-year-old boy who suffered cerebral thrombosis. The proband had a two-year history of recurrent thrombosis involving the lower extremities. His mother and sister were also affected. Studies showed a decreased biological activity (AT-IIIc) and antigen (AT-IIIag) by the Laurell technique in the proband (AT-IIIc = 0.32, AT-IIIag = 46%), his sister (AT-IIIc = 0.29, AT-IIIag = 47%), and his mother (AT- IIIc = 0.41, AT-IIIag 56%). Crossed immunoelectrophoresis (CIE) of the affected individuals' plasma in agarosecontaining heparin demonstrated a normal pattern of migration. Treatment with warfarin sodium (Coumadin) resulted in an increase in activity in two of three affected family members, and in antigen in all three. Anticoagulant therapy did not affect the pattern of AT-III on CIE. This family represents a quantitative deficiency in antithrombin III. A review of the reported cases of antithrombin III deficiency indicates that individuals with this disorder may have thromboembolic disease in childhood.

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Familial Thrombosis Due to Antithrombin III Deficiency

Blood ◽

10.1182/blood.v43.2.219.219 ◽

1974 ◽

Vol 43 (2) ◽

pp. 219-231 ◽

Cited By ~ 197

Author(s):

Ewa Marciniak ◽

Claude H. Farley ◽

Philip A. DeSimone

Keyword(s):

Antithrombin Iii ◽

Clinical Symptoms ◽

Oral Anticoagulants ◽

Laboratory Diagnosis ◽

Blood Component ◽

History Of ◽

Antithrombin Iii Deficiency ◽

Recurrent Venous Thrombosis

Abstract A large kindred from eastern Kentucky, with extensive history of recurrent venous thrombosis and pulmonary embolism, was studied. Low antithrombin III titers, ranging from 26% to 49% of normal values, were found in plasma of nine members in three consecutive generations; another five members, four of whom were not available for study, are suspected of having the biochemical defect. There was a good correlation between clinical symptoms and antithrombin III deficiency, although three of the younger members with the defect still remained free of thrombosis. In serum of the affected subjects antithrombin III was almost completely utilized, which indicates that stoichiometric binding to coagulation enzymes dominates under biological conditions. Antithrombin and antifactor Xa activities residing in the macroglobulin region of plasma and serum remained unchanged. The responsiveness to heparin in vitro and in vivo confirmed the evidence that antithrombin III is the sole blood component through which heparin exerts its anticoagulant effect. In five affected members therapy with oral anticoagulants increased very significantly the level of antithrombin III in plasma and contributed to a remarkable increase of residual antithrombin III in serum. This objective improvement after warfarin therapy may create significant difficulties in the laboratory diagnosis of antithrombin III deficiency.

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Management of antithrombin III deficiency in pregnancy: a representative case and a literature review

Obstetrics Gynecology and Reproduction ◽

10.17749/2313-7347/ob.gyn.rep.2021.230 ◽

2021 ◽

Vol 15 (4) ◽

pp. 441-450

Author(s):

S. V. Akinshina ◽

P. K. Genina ◽

V. O. Bitsadze ◽

J. Kh. Khizroeva ◽

V. I. Tsibizova ◽

...

Keyword(s):

Antithrombin Iii ◽

Blood Clot ◽

Low Molecular Weight ◽

Monitoring Therapy ◽

At Iii ◽

History Of ◽

Antithrombin Iii Deficiency ◽

Therapeutic Doses ◽

Generation Test ◽

Indications For Use

The work is aimed at discussing pregnancy management for the most thrombogenic genetic thrombophilia - antithrombin III (AT-III) deficiency. A detailed analysis of the literature and clinical case of pregnancy management in a patient with AT-III deficiency, pulmonary embolism and habitual history of miscarriage has been performed and presented. Patients with AT-III deficiency are at high risk for developing thrombotic and obstetric complications even despite using therapeutic doses of anticoagulants. Indications for use and modes of administration of AT-III concentrate have not been currently defined clearly. Monitoring therapy with low molecular weight heparin is largely complicated because a test for determining anti-Xa activity is AT-III-dependent. In addition to standard methods for controlling antithrombotic therapy, we used tests characterizing the dynamic blood clot parameters: thromboelastography and thrombin generation test. The peak risk resulting in both thrombotic and hemorrhagic complications in such patients occurs during period of labor and the postpartum period, when a change in the regimen of anticoagulant therapy is required with its temporary withdrawal and additional administration of AT-III concentrate.

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Brucella terminal ileitis: a rare cause of intestinal obstruction about a case

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20213429 ◽

2021 ◽

Vol 9 (9) ◽

pp. 2831

Author(s):

Alejandro Antonio Ayala Correa ◽

Irving Yair Grande Zamora ◽

Santos Enrique Platas Galván ◽

Oswaldo Natanael González Rivera

Keyword(s):

Intestinal Obstruction ◽

Acute Abdomen ◽

Antithrombin Iii ◽

Clinical Manifestations ◽

Systemic Infection ◽

Terminal Ileitis ◽

Unusual Manifestation ◽

Unpasteurized Milk ◽

History Of ◽

Antithrombin Iii Deficiency

Brucellosis is a bacterial zoonosis transmitted by contact with fluids from infected domestic animals, by consumption of unpasteurized milk products, or by inhalation of infected aerosols. Systemic infection has clinical manifestations from asymptomatic cases to those that are fatal. Focal infections occur in 30% of cases and affect any organ. Gastrointestinal manifestations are rare and unspecific. We reported the case of a patient with antithrombin III deficiency who presented with a clinical picture of abdominal pain at the emergency department, with failure of conservative treatment and with progression to acute abdomen, for which surgical treatment was offered, resolving the condition of intestinal obstruction and taking a biopsy that confirmed terminal brucella ileitis, antibiotic treatment and intestinal rest were indicated with successful results. Brucella terminal ileitis is an unusual manifestation of brucellosis. History of consumption of unpasteurized milk and derivatives and contact with livestock should be carefully examined in patients with acute abdomen in Brucella endemic countries. This will lead to a full and uncomplicated recovery from this disease.

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Antithrombin III Deficiency in A Japanese Family

10.1055/s-0038-1665842 ◽

1979 ◽

Author(s):

M. Nakagawa ◽

T. Kawamura ◽

H. Tsuji ◽

Y. Okajima ◽

S. Urano ◽

...

Keyword(s):

Antithrombin Iii ◽

Sinus Thrombosis ◽

Elevated Serum ◽

Peptic Ulcers ◽

Autosomal Dominant Disorder ◽

Japanese Family ◽

Vein Thrombosis ◽

Chromogenic Assay ◽

History Of ◽

Antithrombin Iii Deficiency

Antithrombin IEC has been reported to be decreased in the cases of several thrombotic disorders and the decreased Antithrombin III is known to induce the hypercoagulable state. This study was started from the 28 year-old male patient who developed the superior sagital sinus thrombosis after appendectomy and it was followed by deep vein thrombosis of extremities. Antithrombin III level was 19 mg/dl and activity was 68% by the progressive antithrombin assay and other laboratory examinations were within normal range excepts for the elevated serum lipids. Antithrombin III was assayed for his family members in three consecutive generations by single radial immunodifusion method, coagulation assay, and chromogenic assay. Four out of eight members were comfirmed to have low Antithrombin III level and activity ranging from 59%-68% of normal values, although the two of these four members bad no history of thrombosis. Mother of this propositus is deceased, but it was suspected^of having the defect of Antithrombin III. History of peptic ulcers were found in all members of this family. The inheritance pattern of Antithrombin III deficiency was characteristic of an autosomal dominant disorder.

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