Venous thrombosis and multiple prothrombotic gene defects

Summary

We describe the case of a 30-year-old woman with homozygous prothrombin G20210A transition and heterozygous FV Leiden mutation and a history of postpartum venous thrombosis. Despite the high thrombotic risk to be assumed in the presence of this combined thrombophilia our patient suffered her first venous thrombotic event only at the age of 29 years during the puerperium of her first pregnancy. This fact supports the concept of venous thrombosis as a multicausal disease, with interaction of genetic and acquired risk factors. The case presented also stresses the importance of performing complete thrombophilia investigation.

Zusammenfassung

Wir beschreiben eine 30-jährige Patientin mit homozygoter Prothrombin-G20210A-Transition und heterozygoter Faktor-V-Leiden-Mutation. Trotz des anzunehmenden hohen Thromboserisikos bei dieser kombinierten Thrombophilie erlitt diese Patientin ihr erstes thromboembolisches Ereignis erst im Alter von 29 Jahren im Wochenbett ihrer ersten Schwangerschaft. Dieser Umstand stützt das Konzept, dass die Venenthrombose eine multikausale Krankheit darstellt mit Interaktion von genetischen und erworbenen Risikofaktoren. Der beschriebene Fall unterstreicht außerdem die Notwendigkeit der vollständigen Thrombophilieabklärung.

Keywords

Thrombophilia - venous thromboembolism - FV Leiden mutation - prothrombin G20210A transition

Schlüsselwörter

Thrombose - Thrombophilie - FV-Leiden-Mutation - Prothrombin-G20210A-Mutation

^* Present adress: Institute of Medical Oncology, Inselspital, 3010 Bern, Switzerland

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