Antithrombin iii deficiencyD68.8
DefinitionThis section has been translated automatically.
Congenital or acquired deficiency of antithrombin III (most important physiological inhibitor of blood coagulation; not vitamin K-dependent) and associated disorders of the coagulation cascade (especially lack of inhibition of thrombin and factor Xa).
Occurrence/EpidemiologyThis section has been translated automatically.
Frequent hereditary disease, incidence: approx. 1/5000 to 1/2000 inhabitants. Prevalence in patients with venous thrombus or pulmonary embolism: 2-3.5%.
EtiopathogenesisThis section has been translated automatically.
- Congenital form: Autosomal-dominantly inherited mutation of the wibble or wobble gene at the 1q23-q25.1 gene locus. The majority of patients are heterozygous with respect to the abnormal allele. Mutations of the wibble gene are closely associated with a greatly increased risk of thrombosis in the 2nd-3rd decade of life.
- Acquired form: Mostly the result of an inadequate activation of the coagulation cascade (including disseminated consumption coagulopathy, haemolytic-uremic syndrome, veno-occlusive syndrome after bone marrow transplantation).
ManifestationThis section has been translated automatically.
Homozygote: Often already in the neonatal period. Heterozygote: First thrombosis in adolescents or young adults (usually before the age of 45).
LocalizationThis section has been translated automatically.
Thromboses preferred: In deep leg/pelvic veins, mesenteric veins, portal vein; in homozygous carriers also cerebral.
Clinical featuresThis section has been translated automatically.
LaboratoryThis section has been translated automatically.
Antithrombin III, thromboplastin time, APTT, fibrinogen and platelet count. S.u. thrombophilia, hereditary.
Differential diagnosisThis section has been translated automatically.
S.u. Thrombophilia.
TherapyThis section has been translated automatically.
In case of acquired disease: therapy of the underlying disease. If necessary infusion with antithrombin III (e.g. Atenative). Initial: 50 IU/kg bw/day i.v., then 30 IU/kg bw/day until at least 80% of the normal value is reached. Therapy with anticoagulants, see below Coumarins, systemic and heparins, systemic.
LiteratureThis section has been translated automatically.
- Hegemann B et al (2002) Livedoid vasculitis with ulcerations: the role of antithrombin III deficiency and its therapeutic consequences. Arch Dermatol 138: 841-842
- Konkle BA et al (2003) Use of recombinant human antithrombin in patients with congenital antithrombin deficiency undergoing surgical procedures. Transfusion 43: 390-394
- Kupferminc MJ et al (1999) Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 340: 9-13
- Nowak-Gottl U et al (2001) Risk of recurrent venous thrombosis in children with combined prothrombotic risk factors. Blood 97: 858-862
- Rey E et al (2003) Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 361: 901-918
- Strater R et al (2002) Prospective assessment of risk factors for recurrent stroke during childhood - a 5-year follow-up study. Lancet 360: 1540-1545