Factor V Leiden and antibodies against phospholipids and protein S in a young woman with recurrent thromboses and abortion.
We describe the case of a 39-year-old woman who suffered two iliofemoral venous thromboses, a cerebral ischemic infarct and recurrent fetal loss. Initial studies showed high levels of antiphospholipid antibodies (APAs) and a moderate thrombocytopenia. After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor V Leiden mutation and had a functional protein S deficiency as well as anti-protein S and anti-beta 2-glycoprotein I antibodies. The impairment of the protein C pathway at various points could well explain the recurrent thromboses in the patient and supports the role of a disturbed protein C system in the pathophysiology of thrombosis in patients with APAs.
España
F
F
Centro de Investigación, Hospital Universitario La Fe, Valencia, Spain. ffurio@san.gva.es
Villa
P
P
Mira
Y
Y
Grancha
S
S
Royo
M
M
Estellés
A
A
Vayá
A
A
Aznar
J
J
D000026:Abortion, Habitual / Q000209:etiology*; D020016:Activated Protein C Resistance / Q000150:complications* / Q000235:genetics; D000328:Adult; D017152:Antibodies, Antiphospholipid / Q000097:blood / Q000276:immunology*; D000918:Antibody Specificity; D016736:Antiphospholipid Syndrome / Q000150:complications* / Q000276:immunology; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D001327:Autoimmune Diseases / Q000097:blood / Q000150:complications* / Q000276:immunology; D002545:Brain Ischemia / Q000209:etiology; D002544:Cerebral Infarction / Q000209:etiology; D005165:Factor V / Q000032:analysis*; D005260:Female; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000276:immunology; D006579:Heterozygote; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000097:blood; D011247:Pregnancy; D011248:Pregnancy Complications / Q000276:immunology; D011250:Pregnancy Complications, Hematologic; D017293:Protein S / Q000276:immunology; D019851:Thrombophilia / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D013924:Thrombophlebitis / Q000209:etiology; D053482:beta 2-Glycoprotein I
D017152:Antibodies, Antiphospholipid; D001323:Autoantibodies; D006023:Glycoproteins; D016682:Lupus Coagulation Inhibitor; D017293:Protein S; D053482:beta 2-Glycoprotein I; C095381:factor V Leiden; D005165:Factor V