Document Detail

Homozygous variant of antithrombin with lack of affinity for heparin: management of severe thrombotic complications associated with intrauterine fetal demise.
MedLine Citation:
PMID:  8958394     Owner:  NLM     Status:  MEDLINE    
Patients with homozygous heparin-binding-site (HBS) qualitative antithrombin deficiencies are at significant risk of venous and arterial thrombosis. We report on the eighth case of homozygous HBS deficiency, and the fourth case concerning the Arg 47-Cys mutation. The proposita is a 25 year old, without known thrombotic antecedent, despite an oral contraceptive therapy for 7 years. After 25 weeks of a first pregnancy, she presented an intrauterine fetal demise complicated with deep vein thrombosis and pulmonary embolism. Heparin therapy was inefficient (no clinical nor angiographic improvement, no biological hypocoagulability). Heparin cofactor activity was < 10%, antigen concentration was normal. The crossed immunoelectrophoresis of patient's plasma, with and without heparin, showed a typical profile of qualitative HBS antithrombin deficiency. The molecular analysis revealed an homozygous Arg 4-Cys mutation. Antithrombotic therapy was achieved with continuous infusion of antithrombin concentrates (80 IU/kg/day) and unfractionated heparin (500 IU/kg/day) during 12 days, leading to clinical improvement, and followed by treatment with vitamin K antagonists. This observation emphasizes the risk of intrauterine fetal demise and the inefficiency of heparin therapy without antithrombin infusion in type II HBS homozygous deficiency. The management of a future pregnancy will probably require repeated infusions of antithrombin.
A Bauters; C Zawadzki; A Bura; C Théry; A Watel; D Subtil; M Aiach; J Emmerich; B Jude
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  7     ISSN:  0957-5235     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  1996 Oct 
Date Detail:
Created Date:  1997-02-26     Completed Date:  1997-02-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  705-10     Citation Subset:  IM    
Laboratoire d'Hematologie A, Hôpital Cardiologique, Lille, France.
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MeSH Terms
Antithrombin III / genetics*,  metabolism
Binding Sites / genetics
Blood Coagulation Factors / analysis
Fetal Death*
Heparin / metabolism*,  therapeutic use
Immunoelectrophoresis, Two-Dimensional
Pregnancy Complications, Hematologic / blood*
Sequence Analysis, DNA
Thrombosis / blood*,  drug therapy,  genetics*
Reg. No./Substance:
0/Blood Coagulation Factors; 9000-94-6/Antithrombin III; 9005-49-6/Heparin

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