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 (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.

Detection of beta-blocker use in people with asthma.

Although there have been numerous reports of adverse outcomes for people with asthma who are placed on beta-blockers, there has been no description of how often people with asthma receive prescriptions for beta-blockers. Despite the fact that pharmacy claims are available and can be used for clinical evaluation, there has been no description of a practical surveillance or warning system to recognize and reduce the rate of beta-blocker use in people with asthma. This study used administrative claims data to estimate the prevalence of patients with asthma who also had prescriptions for beta-blockers. Chart audit was used to supplement our understanding of the causes of the problem and its consequences. In the calendar year 1989, in a large midwestern group practice that contracts with a single health maintenance organization (HMO), 3,170 HMO patients presumed to have asthma were identified. Of those 3,170 patients, 44 or 1.4% also had filled prescriptions for beta-blockers. The occurrence of beta-blocker use varied by age group: from less than 1% in patients below 30 years of age, rising to 8.9% in patients aged 60 to 69. Two of the patients with asthma who had prescriptions for beta-blockers were hospitalized for asthma in the study period. In 61% of the cases, different physicians managed the asthma care from those who prescribed the beta-blockers. In the remaining 39%, one physician was responsible for both the asthma care and beta-blocker prescription. We conclude prescribing beta-blockers for individuals with asthma is not uncommon. Current systems of administrative claims data permit the development of warning systems to help avert adverse outcomes.