Inherited Hypercoagulable States – USMLE Step 2 CK exam

by / Tuesday, 22 June 2010 / Published in Internal Medicine

Identifying a patient with an inherited hypercoagulable disease is very important.  Prophylactic anticoagulation should be started and genetic counselling may be appropriate.

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Commonly Tested Hypercoagulable States:

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1.  Antithrombin III Deficiency

  • An autosomal dominant condition
  • Antithrombin III is an inhibitor of thrombin, when there’s a deficiency there will be thrombosis

2.  Antiphospholipid Antibody Syndrome

  • Is an acquired hypercoagulable state, which may present with arterial and/or venous thrombosis

3.  Protein C Deficiency

  • An autosomal dominant disease
  • Protein C inhibits factors V and VIII, thus a deficiency leads to decreased protein C activity

4.  Factor V Leiden Deficiency

  • Is a mutation in factor V gene
  • Protein C can no longer inactivate factor V, leading to unregulated prothrombin activation, and thus an increase in thrombotic events

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In any patient with a DVT, PE, or other Thrombotic event, check for a secondary hypercoagulable state or risk factor, such as:

  • Malignancy
  • Pregnancy
  • Immobilization
  • OCP’s
  • Myeloproliferative diseases
  • Post-operative states
  • Trauma
  • Nephrotic Syndromes
  • PNH
  • CHF
  • Heparin Induced Thrombocytopenia (HIT)
  • Antiphospholipid Antibody Syndrome (Lupus anticoagulant)

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Clinical Features of Inherited Hypercoagulable States:

  1. Venous Thromboembolism (DVT & PE) are the most common sequelae   ……………………………………………….
  2. Suspect inherited hypercoagulable disorder if there is the presence of more than one of the following……..

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  • There is a family history of DVT, PE, or Thrombotic events
  • Patient has recurrent episodes of DVT, PE, or Thrombotic events
  • Patient’s 1st thrombotic event was before the age of 40yr
  • Patient experiences thrombosis at unusual sites, such as mesenteric veins, renal veins, IVC, or cerebral veins

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Diagnosis:

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A functional assay from Antithrombin, Antiphospholipid antibodies, Protein C & S, Factor V Leiden def., Prothrombin Gene mutation, and Hyperhomocysteinemia

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Treatments:

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  1. Standard treatment for DVT and PE as in patients without a primary hypercoagulable condition
  2. Patients with any of these disorders who have had more than 2 thromboembolic events should get permanent anticoagulation with Warfarin

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