{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T05:27:28Z","timestamp":1771046848173,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T00:00:00Z","timestamp":1365120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Percutaneous coronary intervention (<jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content>) 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 as preventive anticoagulation and antiplatelet therapy is difficult. Several cases of successful <jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content> have been described in patients with haemophilia A and B, but there are no reports in patients with combined coagulation factor deficiencies. We used <jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content> to treat the coronary artery disease in a patient with the combined deficiency of factor V and factor VIII (F5F8D) and analysed the molecular basis of the disorder for this patient. A 68\u2010year\u2010old patient was admitted for urgent <jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content> with bare metal stent placement after the diagnosis of the F5F8D. Peripheral blood <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was extracted for the sequence analysis of <jats:italic><jats:styled-content style=\"fixed-case\">LMAN<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">MCFD<\/jats:styled-content>2<\/jats:italic> genes. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">LMAN<\/jats:styled-content>1<\/jats:italic> was confirmed by molecular cloning of the <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> product and resequencing of the resulting clones. The patient underwent successful <jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content> with good long\u2010term outcome. Our patient tolerated anticoagulation therapy well, with unfractionated heparin, and double antiplatelet therapy while he was initially supported with fresh frozen plasma and recombinant <jats:styled-content style=\"fixed-case\">FVIII<\/jats:styled-content>. Molecular analysis revealed that the patient carries unusual compound heterozygous frameshift mutations on the same microsatellite repeat region in exon 8 of <jats:italic><jats:styled-content style=\"fixed-case\">LMAN<\/jats:styled-content>1<\/jats:italic>, one of which is a novel mutation (c.912delA). Our results suggest that patients with F5F8D can safely undergo <jats:styled-content style=\"fixed-case\">PCI<\/jats:styled-content> for coronary artery disease, with the treatment individualized to the specific patient.<\/jats:p>","DOI":"10.1111\/hae.12128","type":"journal-article","created":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T04:48:48Z","timestamp":1365137328000},"page":"607-610","source":"Crossref","is-referenced-by-count":11,"title":["Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in <i>LMAN1<\/i>"],"prefix":"10.1111","volume":"19","author":[{"given":"A. J.","family":"Patel","sequence":"first","affiliation":[{"name":"Division of Hematology and Oncology Department of Medicine University of Florida Gainesville FL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010H.","family":"Liu","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute Cleveland Clinic Lerner Research Institute Cleveland OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Lager","sequence":"additional","affiliation":[{"name":"Cardiology Associates LLC Washington DC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Malkovska","sequence":"additional","affiliation":[{"name":"Dekelboum Medical Oncology\/Hematology Department Washington Cancer Institute Medstar Washington Hospital Center Washington DC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute Cleveland Clinic Lerner Research Institute Cleveland OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,5]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"330","article-title":"Successful multi\u2010vessel percutaneous coronary intervention with bivalirudin in a patient with severe hemophilia A: a case report and review of literature","volume":"16","author":"Arora 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