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Thrombophilia Evaluation in Hematology

Inherited and acquired clotting disorders requiring nuanced testing

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Thrombophilia Evaluation in Hematology?

Thrombophilia describes a state in which the balance between procoagulant and anticoagulant forces favors clotting. Inherited disorders include factor V Leiden, the prothrombin G20210A variant, antithrombin deficiency, and protein C and protein S deficiency. Acquired causes include antiphospholipid syndrome, malignancy, pregnancy, hormone use, and acute inflammation.

Most patients with venous thromboembolism do not need a thrombophilia panel. Testing is reserved for situations in which the result will change duration of anticoagulation or guide family planning, such as unusual sites of thrombosis, very young age at first event, recurrent unprovoked events, or strong family history. Testing during acute clot or while on anticoagulation gives misleading results.

Antiphospholipid syndrome (APS) is the most clinically important acquired thrombophilia. Diagnosis requires both persistent laboratory positivity (lupus anticoagulant, anticardiolipin, anti-beta-2 glycoprotein I) confirmed at least twelve weeks apart and a clinical event such as thrombosis or pregnancy morbidity. Triple-positive APS warrants long-term warfarin rather than direct oral anticoagulants.

Symptoms

Deep vein thrombosis or pulmonary embolism at young age
Recurrent unprovoked venous thromboembolism
Unusual sites such as splanchnic or cerebral veins
Recurrent pregnancy loss
Livedo reticularis (in antiphospholipid syndrome)
Family history of thrombosis at young age

Risk Factors

Family history of thrombophilia or early thrombosis
Personal or family autoimmune disease (SLE)
Active cancer
Pregnancy and the postpartum period
Combined hormonal contraception or hormone replacement

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Sudden leg swelling and pain or chest pain with shortness of breath
  • Recurrent miscarriage or fetal loss
  • Thrombosis at an unusual site
  • Strong family history of unexplained clots

Treatment Methods

01
Selective testing only when results will change management
02
Avoid testing during acute clot or while on anticoagulation
03
Direct oral anticoagulants for most patients with venous thromboembolism
04
Warfarin for triple-positive antiphospholipid syndrome
05
Low molecular weight heparin during pregnancy
06
Lifestyle measures: weight management, mobilization, hydration
07
Genetic counseling for selected family members

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Hematoloji Department

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.