Mastering Medical
USMLE Step 1 · Hematology & Oncology

Inherited thrombophilias vs Antiphospholipid syndrome

How to tell Inherited thrombophilias and Antiphospholipid syndrome apart when a board question makes them look alike.

Fastest separator

Inherited thrombophilia is family-pattern venous clotting from genetic coagulation defects; APS is acquired antibody thrombosis with pregnancy loss or antiphospholipid antibodies.

Side by side

Inherited thrombophiliasAntiphospholipid syndrome
Key clue

Inherited thrombophilias include Factor V Leiden, prothrombin G20210A, protein C/S deficiency, and antithrombin deficiency, classically causing recurrent or provoked venous thrombosis with family history.

Antiphospholipid syndrome causes acquired autoimmune thrombosis with pregnancy morbidity, livedo reticularis, and lupus anticoagulant, anticardiolipin, or anti-beta2 glycoprotein antibodies.

Mechanism

Inherited thrombophilias increase clotting through factor resistance, excess prothrombin, or loss of natural anticoagulant activity.

Antiphospholipid antibodies promote thrombosis despite often prolonging phospholipid-dependent clotting tests in vitro.

Labs and tests

Activated protein C resistance or F5 mutation supports Factor V Leiden; low protein C, protein S, or antithrombin activity supports inherited anticoagulant deficiency.

Positive lupus anticoagulant, anticardiolipin, or anti-beta2 glycoprotein antibodies with thrombosis or pregnancy morbidity supports APS.

The trap

Both can cause venous thrombosis, so family history/genetic or protein activity testing versus pregnancy loss/antibody clues separates them.

Watch it explained

In the rapid reviewBleeding & Clotting for USMLE Step 1: ITP, TTP, DIC, Hemophilia & vWD
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The repair move

For thrombophilia, separate inherited coagulation defects from acquired antiphospholipid antibody disease.

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Core

A young patient develops deep venous thrombosis after starting estrogen-containing contraception. Family history shows multiple relatives with venous thrombosis, and testing shows activated protein C resistance. Which diagnosis is most likely?

Show answer and explanation

Answer: A. Inherited thrombophilia. Activated protein C resistance with inherited venous thrombosis risk points to Factor V Leiden within inherited thrombophilias.

Why the other choices are tempting

  • B. APS is acquired antibody-mediated thrombosis with pregnancy morbidity clues.
  • C. Hemophilia A causes bleeding from factor VIII deficiency, not inherited thrombophilia.
  • D. Von Willebrand disease causes mucocutaneous bleeding, not inherited venous thrombosis.
  • E. DIC is acquired systemic coagulation activation with factor consumption.

Flashcards

Tap a card to flip it.

What mechanism defines Factor V Leiden?

Resistance of factor V to activated protein C defines Factor V Leiden, an inherited thrombophilia.

What pregnancy clue supports antiphospholipid syndrome?

Recurrent pregnancy loss with thrombosis supports antiphospholipid syndrome.

Quick answers

What is the fastest way to tell Inherited thrombophilias from Antiphospholipid syndrome?

Inherited thrombophilia is family-pattern venous clotting from genetic coagulation defects; APS is acquired antibody thrombosis with pregnancy loss or antiphospholipid antibodies.

What is the key clue for Inherited thrombophilias?

Inherited thrombophilias include Factor V Leiden, prothrombin G20210A, protein C/S deficiency, and antithrombin deficiency, classically causing recurrent or provoked venous thrombosis with family history.

What is the key clue for Antiphospholipid syndrome?

Antiphospholipid syndrome causes acquired autoimmune thrombosis with pregnancy morbidity, livedo reticularis, and lupus anticoagulant, anticardiolipin, or anti-beta2 glycoprotein antibodies.

What is the common trap with Inherited thrombophilias vs Antiphospholipid syndrome?

Both can cause venous thrombosis, so family history/genetic or protein activity testing versus pregnancy loss/antibody clues separates them.