Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1

Percutaneous coronary intervention () 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 have been described in patients with haemophilia A and B, but there are no reports in patients with combined coagulation factor deficiencies. We used 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 with bare metal stent placement after the diagnosis of the F5F8D. Peripheral blood was extracted for the sequence analysis of and genes. Mutations in was confirmed by molecular cloning of the product and resequencing of the resulting clones. The patient underwent successful 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 . Molecular analysis revealed that the patient carries unusual compound heterozygous frameshift mutations on the same microsatellite repeat region in exon 8 of , one of which is a novel mutation (c.912delA). Our results suggest that patients with F5F8D can safely undergo for coronary artery disease, with the treatment individualized to the specific patient.

Duke Scholars

Author Christopher Leo Medicine, General Internal Medicine