title: Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
abstract: 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 as preventive anticoagulation and antiplatelet therapy is difficult. Several cases of successful PCI have been described in patients with haemophilia 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 analysed 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 F5F8D. Peripheral blood DNA was extracted for the sequence analysis of LMAN1 and MCFD2 genes. Mutations 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. Our patient tolerated anticoagulation therapy well, with unfractionated heparin, and double antiplatelet therapy while he was initially supported with fresh frozen plasma 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.
authors.affiliation: Division of Hematology and Oncology, Department of Medicine, University of Florida, Gainesville, FL, USA.
authors.forename: A J
authors.initials: AJ
authors.lastname: Patel
authors.forename: H-H
authors.initials: HH
authors.lastname: Liu
authors.forename: R A
authors.initials: RA
authors.lastname: Lager
authors.forename: V
authors.initials: V
authors.lastname: Malkovska
authors.forename: B
authors.initials: B
authors.lastname: Zhang
mesh_terms: D000368:Aged; D017023:Coronary Angiography; D005165:Factor V / Q000378:metabolism; D005166:Factor V Deficiency / Q000150:complications*; D005169:Factor VIII / Q000378:metabolism; D006467:Hemophilia A / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D062645:Percutaneous Coronary Intervention
chemical_list: C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; D005165:Factor V; D005169:Factor VIII
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