RESUMEN
BACKGROUND: Management of patients with inherited bleeding disorders has improved since the introduction of Comprehensive Care Centres (CCC) in the United Kingdom (UK). In the event such patients need surgery, the aim of the multidisciplinary team is to facilitate outcomes as good as what would be expected in a non-bleeding disorder patient. A review of such comprehensive care was carried out in patients with inherited bleeding disorders when they needed surgery at Northern Ireland CCC. Aims of the study were to evaluate surgical morbidity and mortality in these patients. METHODS: All patients with inherited bleeding disorders who underwent non-orthopaedic surgery between 2008 and 2012 were identified from the CCC records within the Belfast Health and Social Care Trust (BHSCT) in Northern Ireland (NI) and their case records reviewed. RESULTS: 28 patients received elective and emergency surgery during this period. There was minimum morbidity and no mortality in this cohort. CONCLUSIONS: Surgery in patients with inherited bleeding disorders has become safe with the advent of multidisciplinary CCCs. Close communication between surgeon and haematologist is key in the successful management of these complex patients.
Asunto(s)
Trastornos de la Coagulación Sanguínea/cirugía , Procedimientos Quirúrgicos Operativos/métodos , Adulto , Anciano , Trastornos de la Coagulación Sanguínea/sangre , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Irlanda del Norte , Seguridad del Paciente , Procedimientos Quirúrgicos Operativos/efectos adversosRESUMEN
Congenital factor XI deficiency is a rare condition, in which plasma factor XI levels correlate poorly with the severity of haemorrhage. The condition is typically characterized by post-traumatic bleeding. The factor XI gene is located on chromosome 4 and contains 15 exons. More than 80 mutations have so far been described. We describe a novel mutation in the factor XI gene associated with mild factor XI deficiency. The patient, who is of Irish descent, has a history of post-traumatic bleeding and was found to have a borderline factor XI deficiency. DNA sequence analysis of the factor XI gene revealed a novel T to A mutation at nucleotide 168 resulting in the substitution of the cysteine residue at codon 38 with a stop codon (Cys38STOP). The mutation predicts the premature termination of translation of factor XI mRNA resulting in a truncated, and probably unstable, factor XI protein. The presence of the mutation is consistent with the patient's borderline factor XI deficiency.
Asunto(s)
Codón sin Sentido/genética , Deficiencia del Factor XI/genética , Factor XI/genética , Hemorragia/etiología , Adulto , Femenino , Hemorragia/fisiopatología , Humanos , Análisis de Secuencia de ADNRESUMEN
Venous thromboembolism (VTE) is a frequent complication in individuals with cancer and is considered to be a cause of substantial mortality. Epidemiological studies identify malignancy as an independent VTE risk factor and show that cancer patients are at increased risk of both initial and recurrent VTE events. The risk due to cancer is compounded by the effects of chemotherapy and other treatments. The pathogenesis of cancer-associated VTE is complex involving multiple interactions between tumours and various components of haemostasis. The development of a systemic hypercoagulable state is considered a key pathogenetic feature and is attributed to tumour expression of tissue factor and other procoagulants, activation of vascular cells by tumour-derived cytokines and adhesive interactions between tumour cells and host cells. An increasing body of evidence indicates that the activation of haemostasis in malignant disease contributes to tumour growth and progression by stimulation of intracellular signalling pathways. The interaction of tissue factor, thrombin and other coagulation factors with protease activated receptor (PAR) proteins expressed by tumour cells and host vascular cells leads to the induction of genes related to the processes of angiogenesis, cell survival and cell adhesion and migration.
Asunto(s)
Factores de Coagulación Sanguínea/metabolismo , Coagulación Sanguínea , Neoplasias/metabolismo , Neovascularización Patológica/metabolismo , Tromboembolia/metabolismo , Trombosis de la Vena/metabolismo , Antineoplásicos/efectos adversos , Antineoplásicos/uso terapéutico , Coagulación Sanguínea/efectos de los fármacos , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Humanos , Neoplasias/complicaciones , Neoplasias/tratamiento farmacológico , Neoplasias/mortalidad , Neovascularización Patológica/etiología , Neovascularización Patológica/mortalidad , Neovascularización Patológica/patología , Factores de Riesgo , Transducción de Señal/efectos de los fármacos , Tromboembolia/etiología , Tromboembolia/mortalidad , Trombosis de la Vena/etiología , Trombosis de la Vena/mortalidadRESUMEN
This single center study is the largest series of renal transplant recipients and donors screened for the commonest prothrombotic genotypes. A total of 562 transplant recipients and 457 kidney donors were genotyped for the factor V Leiden and prothrombin G20210A mutations. The prevalence of heterozygous factor V Leiden was 3.4% and 2.6% and prothrombin G20210A was 2.0% and 1.1% in recipients and donors, respectively, similar frequencies to that of the general U.K. population. The 30-day and 1-year graft survival rates in recipients with thrombophilic mutations were 93% and 93%, compared with 88% and 82% in patients without these mutations (log-rank P=0.34). Thrombophilia in recipients (odds ratio 0.55; confidence interval 0.06-2.29; P=0.56) or in donors (odds ratio 1.53; confidence interval 0.27-5.74; P=0.46) did not correlate with graft loss at 30 days after transplantation. In contrast to recent reports, this study did not demonstrate an association between thrombophilia and renal allograft loss, and routine screening is not recommended.