Ea. Higginbotham et al., Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus, J RHEUMATOL, 28(2), 2001, pp. 370-372
Thrombophilia can result from either inherited or acquired conditions. We d
escribe a teenager who developed extensive thrombosis requiring aggressive
and prolonged anticoagulation. Laboratory evaluation revealed an acquired l
upus anticoagulant, consistent with the antiphospholipid antibody syndrome
(APS). DNA analysis revealed inherited thrombophilic mutations in the facto
r V and methylene tetrahydrofolate reductase genes. We believe that the com
bination 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 wit
h acquired thrombophilic conditions such as APS and systemic lupus erythema
tosus.