Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
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DOI：
10.1111/hae.12128
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发表时间：
2013-07
期刊：
影响因子：
--
通讯作者：
Zhang B
中科院分区：
文献类型：
--
作者：
Patel AJ;Liu HH;Lager RA;Malkovska V;Zhang B
Percutaneous coronary intervention (PCI) in patients with congenital coagulation factor deficiencies presents a unique challenge. They are not only at increased risk of perioperative bleeding but can also suffer thrombosis of the stent since preventive anticoagulation and antiplatelet therapy is difficult. Several cases of successful PCI have been described in patients with hemophilias A and B, but there are no reports in patients with combined coagulation factor deficiencies. We used PCI to treat the coronary artery disease in a patient with the combined deficiency of factor V and factor VIII (F5F8D) and analyzed the molecular basis of the disorder for this patient. A 68 year old patient was admitted for urgent PCI with bare metal stent placement after the diagnosis of the combined deficiency of F5F8D. Peripheral blood DNA was extracted for the sequence analysis of LMAN1 and MCFD2 genes. Mutation in LMAN1 was confirmed by molecular cloning of the PCR product and resequencing of the resulting clones. The patient underwent successful PCI with good long-term outcome. He tolerated well anticoagulation therapy with unfractionated heparin and double antiplatelet therapy while he was initially supported with fresh frozen plama and recombinant FVIII. Molecular analysis revealed that the patient carries unusual compound heterozygous frameshift mutations on the same microsatellite repeat region in exon 8 of LMAN1, one of which is a novel mutation (c.912delA). Our results suggest that patients with F5F8D can safely undergo PCI for coronary artery disease, with the treatment individualized to the specific patient.
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影响因子：
3.9
作者：
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通讯作者：
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通讯作者：
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通讯作者：
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