Thrombophilias, or trouble never comes alone

Abstract

Venous thromboembolism is being recognized increasingly at a young age, with not only the etiological role of the COVID-19-pandemic being considered but also the rarer occurrences of thrombophilias and the regional clustering of certain diseases. In our case study, we present a 28-year-old male patient who developed massive pulmonary embolism and deep vein thrombosis while immobilized. Two factors, type 2 antithrombin III deficiency and antiphospholipid syndrome were confirmed as underlying causes. Upon admission, familial clustering thromboembolism and non-therapeutic APTT (activated partial thromboplastin time) despite increased Na-heparin dosage raised the possibility of antithrombin III deficiency, which was confirmed by laboratory tests. Despite the supplementation of AT III factor (Kybernin®), adequate therapeutic effect was not achieved, so we switched to NOAC. In the meantime, laboratory tests suggested the possibility of antiphospholipid syndrome, which was confirmed by follow-up tests. Consequently, we were forced to modify the therapy again, switching from NOAC to a vitamin K antagonist. From our case, it can be concluded that in young patients with observed familial clustering, it is worth considering the rarer causes of thrombophilia even in acute situations, as these can fundamentally change the approach to anticoagulation. In cases of well-founded clinical suspicion, it is not sufficient to take the relevant screening tests delayed.

Keywords

• thrombophilia
• antithrombin iii deficiency
• antiphospholipid syndrome
• pulmonary embolism