I-es típusú antitrombinhiány artériás és vénás thrombosisok hátterében egy súlyosan thrombophiliás családban

Translated title of the contribution: Type I antithrombin deficiency as a cause of arterial and venous thrombosis in a family with severe thrombophilia

Orsolya Tóth, Marianna David, Tamás Habon, Ágnes Nagy, Zsuzsanna Keszthelyi, Norbert Kovács, Hajna Losonczy

Research output: Contribution to journalArticle

Abstract

Introduction: In rare cases of thromboembolic diseases developing in young age, venous and arterial thromboembolism can occur simultaneously. Aims: To detect the venous and the arterial risk factors in a severe thrombophilic family. A 47-years-old female with severe atherosclerosis and recurrent deep vein thrombosis, and 6 members of her family were analysed. Methods: The following haemostatic and molecular genetic investigations were performed: besides the rutin haemostatic parameters, risk factors for venous thrombembolic disease, risk factors for venous and arterial thrombosis (plasma homocystein level, MTHFR C677T polymorphism) were determined. This panel was completed with the measurement of lipoprotein (a), von Willebrand factor, plasminogen activator irihibitor-1 antigen, serum total cholesterin, HDL cholesterin, C reactive protein and PIA2 variant. The propositus was proven to have type I antithrombin deficiency, elevated homocystein level, homozigous MTHFR C677T polymorphism, elevated Lp(a), vWF:Ag, and PAI-1:Ag levels. Results: All family members had a combination of cardiovascular risk factors (in 4 cases elevated homocystein level, in 3 cases elevated Lp(a), in 2 cases elevated vWF:Ag, in 4 cases increased PAI-1 level). These risk factors were combined in three cases with type I antithrombin deficiency. Despite of the presence of atherosclerotic risk factors in the family, arterial thrombotic disease could be detected only in two patients with antithrombin deficiency. Conclusions: The results of the investigated family indicate that in case of combination of venous and arterial thromboembolic risk factors, antithrombin deficiency may contribute to the manifestation of arterial thromboembolic diseases.

Original languageHungarian
Pages (from-to)2121-2125
Number of pages5
JournalOrvosi hetilap
Volume146
Issue number41
Publication statusPublished - Dec 1 2005

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Tóth, O., David, M., Habon, T., Nagy, Á., Keszthelyi, Z., Kovács, N., & Losonczy, H. (2005). I-es típusú antitrombinhiány artériás és vénás thrombosisok hátterében egy súlyosan thrombophiliás családban. Orvosi hetilap, 146(41), 2121-2125.