Thrombophilia is a condition with a predisposition to develop thrombosis (e.g., blood clots) due to either an inherited or acquired defect in the coagulation system.
On subsequent investigation for thrombophilia profile, homocysteine level was moderately increased (42 micromole/litre) (Table 1), and rest coagulation profile was unremarkable.
Thrombophilia work-up of future cases may shed light on the association between this serious thrombotic event and an underlying thrombophilia such as protein S deficiency.
Amongst the 18 tested for an underlying thrombophilia, four (40.0%) had protein C deficiency, five (50.0%) had protein S deficiency, and two (33.3%) had antithrombin deficiency.
The patient's hereditary thrombophilia (the protein S deficiency) also played an important part and was probably the reason why the first paraneoplastic manifestation presented as a thrombosis of major veins.
In our case, due to multiple embolic phenomena and increased risk of new embolization in this patient with thrombophilia, we decided to proceed with surgical thrombectomy with an excellent clinical outcome.
There were no arguments for an acquired thrombophilia (normal hemogram test and renal function, absence of lupus anticoagulant, anticardiolipin and anti-beta2-glycoprotein I antibodies).
We investigated the patient for thrombophilia before starting oral anticoagulation, and found him in a heterozygous state for MTHFR C 667 T mutation, as his only single anomaly.