Antithrombin iii deficiency D68.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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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/Epidemiology
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Frequent hereditary disease, incidence: approx. 1/5000 to 1/2000 inhabitants. Prevalence in patients with venous thrombus or pulmonary embolism: 2-3.5%.

Etiopathogenesis
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  • 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).

Manifestation
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Homozygote: Often already in the neonatal period. Heterozygote: First thrombosis in adolescents or young adults (usually before the age of 45).

Localization
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Thromboses preferred: In deep leg/pelvic veins, mesenteric veins, portal vein; in homozygous carriers also cerebral.

Clinical features
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Laboratory
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Antithrombin III, thromboplastin time, APTT, fibrinogen and platelet count. S.u. thrombophilia, hereditary.

Differential diagnosis
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Therapy
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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.

Literature
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  1. Hegemann B et al (2002) Livedoid vasculitis with ulcerations: the role of antithrombin III deficiency and its therapeutic consequences. Arch Dermatol 138: 841-842
  2. Konkle BA et al (2003) Use of recombinant human antithrombin in patients with congenital antithrombin deficiency undergoing surgical procedures. Transfusion 43: 390-394
  3. Kupferminc MJ et al (1999) Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 340: 9-13
  4. Nowak-Gottl U et al (2001) Risk of recurrent venous thrombosis in children with combined prothrombotic risk factors. Blood 97: 858-862
  5. Rey E et al (2003) Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 361: 901-918
  6. 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

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Last updated on: 29.10.2020