Ärftlig antitrombinbrist - ovanlig, men allvarlig. Ger stor risk för venös tromboembolism
Sammanfattning
Congenital AT deficiency is a rare heterogenous group of mutations strongly predisposing for VTE. The deficiency may be difficult to diagnose especially in neonates. It is of utmost importance to be liberal with thromboprophylaxis in predisposing events. AT replacement may be considered in special situations. The new direct inhibitors of factor Xa and thrombin are theoretically better agents than LMWH and standard heparin but so far clinical experience is limited.