Lupus anticoagulant, factor V Leiden, and methylenetetrahydrofolate reductase gene mutation in a lupus patient with cerebral venous thrombosis.
We describe the case of a young Lebanese woman with systemic lupus erythematosus (SLE) and a positive lupus anticoagulant (LAC) who developed right internal jugular vein and sigmoid sinus thrombosis. Coagulation studies showed that in addition to the LAC the patient was heterozygous for the factor V (FV) Leiden mutation, and C677T mutation of the methylenetetrahydrofolate reductase gene. The high prevalence of FV Leiden in the eastern Mediterranean region suggests that we should probably screen our SLE patients in this area, especially those with anticardiolipin antibodies and/or LAC who have no history of thrombosis, for this and other thrombophilia markers. The detection of such abnormalities may have major practical consequences for the long-term management of these patients to prevent further thrombotic episodes.
Department of Internal Medicine, Faculty of Medicine, Medical Center, American University of Beirut, Beirut, Lebanon. iuthman@aub.edu.lb
Imad
I
Uthman
Ismail
I
Khalil
Raja
R
Sawaya
Ali
A
Taher
D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use; D001780:Blood Coagulation Tests; D002550:Cerebral Veins / Q000473:pathology; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000097:blood; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000150:complications / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000235:genetics; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology
D000925:Anticoagulants; D016682:Lupus Coagulation Inhibitor; C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)