Coexistence of familial antiphospholipid syndrome and factor V Leiden: impact on thrombotic diathesis.
Two young siblings who presented with an unusual recurrent severe thromboembolic phenomenon were found to have familial anti-phospholipid syndrome and were heterozygous for the factor V R506Q mutation. The coexistence of hereditary and acquired APC-resistance may explain the severity of thromboembolism.
Brenner
B
B
Department of Internal Medicine D, Rambam Medical Centre, Haifa, Israel.
Vulfsons
S L
SL
Lanir
N
N
Nahir
M
M
D000022:Abortion, Spontaneous / Q000209:etiology; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D016736:Antiphospholipid Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D001853:Bone Marrow / Q000098:blood supply*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005263:Femoral Artery; D005313:Fetal Death; D006801:Humans; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000209:etiology*; D011486:Protein C / Q000037:antagonists & inhibitors; D013923:Thromboembolism / Q000097:blood / Q000209:etiology* / Q000235:genetics; D013927:Thrombosis / Q000209:etiology*
D000925:Anticoagulants; D011486:Protein C; D005165:Factor V