Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus.
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.
Higginbotham
E A
EA
Medicine-Pediatric Residency Training Program, Duke University Medical Center, Durham, North Carolina 27710, USA.
Zimmerman
S A
SA
Howard
T A
TA
Schanberg
L
L
Kredich
D
D
Ware
R E
RE
D000293:Adolescent; D000925:Anticoagulants / Q000008:administration & dosage; D016736:Antiphospholipid Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006493:Heparin / Q000008:administration & dosage; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000187:drug effects / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019851:Thrombophilia / Q000188:drug therapy / Q000235:genetics*; D020246:Venous Thrombosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology
D000925:Anticoagulants; D016682:Lupus Coagulation Inhibitor; D006493:Heparin