Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus.

Journal Article (Journal Article)

Thrombophilia can result from either inherited or acquired conditions. We describe a teenager who developed extensive thrombosis requiring aggressive and prolonged anticoagulation. Laboratory evaluation revealed an acquired lupus anticoagulant, consistent with the antiphospholipid antibody syndrome (APS). DNA analysis revealed inherited thrombophilic mutations in the factor V and methylene tetrahydrofolate reductase genes. We believe that the combination of inherited and acquired hypercoagulable conditions affected her therapeutic response to anticoagulant therapy. Inherited thrombophilic DNA mutations may contribute to the hypercoagulability observed in patients with acquired thrombophilic conditions such as APS and systemic lupus erythematosus.

Full Text

Duke Authors

Cited Authors

  • Higginbotham, EA; Zimmerman, SA; Howard, TA; Schanberg, L; Kredich, D; Ware, RE

Published Date

  • February 2001

Published In

Volume / Issue

  • 28 / 2

Start / End Page

  • 370 - 372

PubMed ID

  • 11246680

International Standard Serial Number (ISSN)

  • 0315-162X


  • eng

Conference Location

  • Canada