When thrombophilia testing is useful
Testing may be considered for an unprovoked venous thromboembolism at a young age, recurrent clots, thrombosis in an unusual site such as the cerebral or splanchnic veins, a strong family history, pregnancy-related thrombosis, or selected cases of recurrent pregnancy loss.
Testing is usually avoided during the acute clot and while on anticoagulation because results can be unreliable. It is also not routine for every person with a deep vein thrombosis, because finding a mild inherited trait often does not change treatment.
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Inherited and acquired causes
Inherited thrombophilias include factor V Leiden, the prothrombin gene mutation, protein C or S deficiency and antithrombin deficiency. Antiphospholipid syndrome is an acquired autoimmune cause and needs specific testing and management.
Acquired risk factors include cancer, pregnancy, oestrogen-containing medicines, surgery, immobility, dehydration, infection, obesity, myeloproliferative neoplasms and nephrotic syndrome. Often several factors act together.
- Unprovoked or recurrent venous thrombosis
- Thrombosis at a young age or in an unusual site
- Recurrent pregnancy loss or pregnancy-related clot
- Strong family history of unprovoked clots
- Antiphospholipid antibody testing when indicated
Treatment and anticoagulation planning
The main decision is how long to continue anticoagulation. This depends on whether the clot was provoked, the risk of recurrence, bleeding risk, kidney function, pregnancy plans and patient preference. Direct oral anticoagulants, warfarin or heparin are chosen accordingly.
Pregnancy usually requires low-molecular-weight heparin rather than warfarin or direct oral anticoagulants. Oestrogen-containing contraceptives and hormone therapy may need to be stopped. Compression stockings, cancer-associated thrombosis care and coordination with obstetrics, oncology and surgery are arranged when relevant.
Access and booking
Dr. Baniya consults at Kathmandu Neurology Clinic & Cognitive Center, Durbar Marg, and also practises at Kathmandu Cancer Center (KCC) Nepal, Civil Service Hospital, Kathmandu, and Advanced Care Hospital. Appointments are arranged at the Durbar Marg clinic or through the respective hospital or cancer centre. Bring all blood counts, marrow, flow cytometry and molecular reports.