Thrombosis in systemic lupus erythematosus: effect of inherited thrombophilic mutations.
Thrombosis in the venous or arterial system is quite common in systemic lupus erythematosus (SLE). We describe a young female patient whose first presentation was in the form of deep venous thrombosis of the right lower extremity. Her family history for thrombosis was positive and further studies revealed her to have SLE. Genetic studies showed that she had thrombophilic mutations of factor V, prothrombin and methylene tetrahydrofolate reductase genes. Her therapeutic response to anticoagulant therapy was satisfactory. The presence of inherited thrombophilic mutations must be searched for in SLE patients with thrombosis, especially in cases with a positive family history.
Trakya Medical Faculty, University of Trakya, Edirne, Turkey. gepamuk@yahoo.com
G E
GE
Pamuk
B
B
Turgut
O
O
Vural
M
M
Demir
M
M
Soy
G
G
Bozkurt
H
H
Celik
D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005260:Female; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D011379:Prognosis; D011516:Prothrombin / Q000235:genetics*; D018570:Risk Assessment; D012720:Severity of Illness Index; D019851:Thrombophilia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D016896:Treatment Outcome; D018608:Ultrasonography, Doppler; D020246:Venous Thrombosis / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*
D000305:Adrenal Cortex Hormones; D005343:Fibrinolytic Agents; D011516:Prothrombin