Familial antithrombin III deficiency as pathogenesis of deep venous thrombosis. 1978

L Johansson, and U Hedner, and I M Nilsson

A family including 18 members with decreased antithrombin III (AT III), measured with both a biological and an immunochemical method, is described. The pattern found on crossed immunoelectrophoresis, using heparin in the agarose in the first run, was normal, though the peaks were low. This suggests decreased synthesis of a normal protein in the affected members. AT III deficiency occurred in both the paternal and the maternal branch, of the above 18 persons had had at least one thromboembolic episode. Some of the episodes had been precipitated by the presence or occurrence of some predisposing event or circumstance. This suggests the possible occurrence of a gene making some of the maternal family members more susceptible to certain trigger factors, such as surgery, infection, pregnancy, and the puerperium. The mode of inheritance filled all the criteria for autosomal dominant transmission. Prophylactic treatment, preferably oral anticoagulants and/or dextran, is recommended for all persons with a low AT III concentration in any situation known to increase the predisposition to thrombosis. The effect of heparin in these patients is impaired since the heparin co-factor, which is identical with AT III, is lowered.

UI MeSH Term Description Entries
D007123 Immunoelectrophoresis, Two-Dimensional Immunoelectrophoresis in which a second electrophoretic transport is performed on the initially separated antigen fragments into an antibody-containing medium in a direction perpendicular to the first electrophoresis. Immunoelectrophoresis, Crossed,Immunoelectrophoresis, 2-D,Immunoelectrophoresis, 2D,2-D Immunoelectrophoresis,2D Immunoelectrophoresis,Crossed Immunoelectrophoresis,Immunoelectrophoresis, 2 D,Immunoelectrophoresis, Two Dimensional,Two-Dimensional Immunoelectrophoresis
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D000990 Antithrombin III A plasma alpha 2 glycoprotein that accounts for the major antithrombin activity of normal plasma and also inhibits several other enzymes. It is a member of the serpin superfamily. Heparin Cofactor I,Antithrombin III-Alpha,Atenativ,Heparin Co-Factor I,Kybernin,Serpin C1,Thrombate III,Antithrombin III Alpha,Antithrombin IIIAlpha,Cofactor I, Heparin,Heparin Co Factor I

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