Abstract
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.
MeSH terms
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Abortion, Spontaneous / etiology
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Adult
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Anticoagulants / therapeutic use
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Antiphospholipid Syndrome / blood
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Antiphospholipid Syndrome / complications
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Antiphospholipid Syndrome / genetics*
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Bone Marrow / blood supply*
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Factor V / genetics*
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Female
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Femoral Artery*
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Fetal Death
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Humans
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Pregnancy
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Pregnancy Complications, Cardiovascular / etiology*
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Protein C / antagonists & inhibitors
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Thromboembolism / blood
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Thromboembolism / etiology*
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Thromboembolism / genetics
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Thrombosis / etiology*
Substances
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Anticoagulants
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Protein C
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Factor V