Thrombophilia Screening / Testing

Test Indications

Lupus Anticoagulant/ ACA / Anti-B2GP1

1. In the presence of unprovoked both arterial and venous thrombosis

2. Unexplained arterial thrombosis (young strike or myocardial infarction) with no risk factor & age <50 years old

3. ≥3 unexplained miscarriage < 10 weeks gestation

4. ≥1 unexplained fetal death >10 weeks gestation

5. Premature birth with normal morphology <35 weeks gestation due to severe pre- eclampsia or IUGR

6. Patients who have unprovoked Deep Vein Thrombosis (DVT) or Pulmonary Embolism (PE) if plan to stop medication.

Heritage Thrombophilia Testing

1. Patients <40 years of age who have unprovoked DVT or PE and had first degree of relative who have DVT or PE and plan to stop medication

2. Neonates and children with purpura fulminans should be tested urgently for Protein C & Protein S.

3. Adults who develop skin necrosis in association with VKAs, suggest to test Protein C & Protein S after stop treatment.

4. If a women contemplating estrogen use or pregnancy has a first degree relative with VTE and a known hereditary thrombophilia, test for thrombophilia if the result would change the decision to use estrogen/VTE prophylaxis during pregnancy

Note: Thrombosis prone families (2 symptomatic family members)

Test Not Indicated In Conditions As Below:

1. Patients who plan for continuing anticoagulant treatment

2. Patient who had provoked VTE

3. Asymptomatic people who had first degree relative of DVT, PE or thrombophilia

4. Do not offer heritable thrombophilia testing on patients who had an arterial thrombosis (young stroke or myocardial infarction) including pediatric stroke.

5. Indiscriminate testing for heritable thrombophilia test on unselected patients with first episode of venous thrombosis.

6. Patients with CVC related venous thrombosis or unselected patients with upper limb thrombosis

7. Patient with retinal vein occlusion

8. Women with hyperstimulation ovarian syndrome

9. Hospitalised patients to identify risk of acquired venous thrombosis.

10. During acute episode of thrombosis & pregnancy

11. Patient on anticoagulant – should be discontinued as below:

    1. Warfarin: suggest to send 2 weeks after discontinuation

    2. UFH: suggest to send 24 hours post dose

    3. LMWH: suggest to send 24 hours post dose (minimum 12 hours)

    4. DOAC: suggest to send 72 hours post dose

Uncertain Predictive Value For Recurrence

1. Test for heritable thrombophilia after first episode of cerebral vein thrombosis

2. Test for heritable thrombophilia after first episode of intra-abdominal vein thrombosis

3. SLE without history of thrombosis/pregnancy morbidities

Reference

Guideline for Thrombophilia Testing, National Blood Centre, Kuala Lumpur, 2018.