A Case of Hemophilia B Diagnosed after Rhinosinus Surgery in 37 Year-Old Patient / 대한이비인후과학회지

Hemophilia is an X-linked recessive disorder, which is classified into hemophilia A, defined by factor VIII deficiency and hemophilia B, defined by factor IX deficiency. The usual clinical presentation is spontaneous bleeding and prolonged activated partial thromboplastin time in a person without history of a coagulation disorder. The severity of hemophilia describes how serious a problem is and has been defined by a traditional classification into three forms: severe, moderate, mild. Hemophilia has never been reported after a rhinosinus surgery in otorhinolaryngology in Korea, but we encountered a 37-year-old man with hemophilia B who had undergone a rhinosinus surgery. He had no bleeding tendency in the past nor a family history for bleeding. But the patient presented with continuous nasal bleeding for a few days after surgery. We report this case of hemophilia B diagnosed after rhinosinus surgery that was cured with Factor IX replacement therapy with a review of the relevant literature.

Características clínicas y epidemiológicas de pacientes con hemofilia del eje cafetero, Colombia / Clinical and epidemiological characteristics of patients with Haemophilia from coffee region, Colombia

INTRODUCCIÓN: La hemofilia es un trastorno hemorrágico hereditario, ligado al cromosoma X, con una prevalencia estimada de 8,4 casos de hemofilia A y 2,7 casos de hemofilia B por cada 100 000 hombres. OBJETIVO: Describir características sociodemográficas, clínicas y percepción del efecto de la patología en el paciente. MATERIALES Y MÉTODOS: Se realizó un estudio transversal, en pacientes con diagnóstico de hemofilia. La fuente de información fueron las historias clínicas, además de una encuesta aplicada para actualizar la caracterización clínica y epidemiológica, el análisis estadístico fue realizado con el software Stata versión 14®. RESULTADOS: 48 pacientes fueron incluidos en el estudio, el 97,9% presenta hemofilia tipo A, de los cuales el 12,5%, 43,8% y 41,7% son leve, moderada y severa respectivamente. El 35% de los pacientes con hemofilia severa desarrollaron anticuerpos contra el factor VIII. El 66% de los pacientes ha presentado alguna manifestación de la patología en los últimos seis meses y el 61,7% refieren que ha tenido un impacto negativo en algún aspecto de su vida. CONCLUSIONES: Los factores asociados a un requerimiento mayor de dosis del factor para el control de la patología fueron antecedente de sangrado, mayor edad y el desarrollo de inhibidores. Los pacientes con hemofilia severa presentaron desarrollo de inhibidores en un 30%, frente a la moderada y leve con un 3 y 0,3% respectivamente.

INTRODUCTION: Hemophilia is an inherited bleeding disorder, linked to the X chromosome, with an estimated prevalence of 8,4 cases of hemophilia A and 2.7 cases of hemophilia B per 100 000 men. OBJETIVE: To describe sociodemographic, clinical characteristics and perception of the effect of the pathology in the patient. MATERIAL AND METHODS: A descriptive cross-sectional study was conducted with patients diagnosed with hemophilia. The required information was extracted from each patient's medical history, additionally, each patient completed a questionnaire to update the clinical and epidemiological information. The analysis was realized in Stata version 14®. RESULTS: From the 48 patients included in the study, 97,9% have type A hemophilia, of whom 12,5%, 43,8% and 41,7% are mild, moderate and severe respectively. 35% of patients with severe hemophilia have developed antibodies against factor VIII. 66% of patients presented some manifestation of the disease in the last six months and 61,7% had a negative impact on some aspect of their life. CONCLUSION: Factors associated with a higher dose requirement of factor for pathology control were antecedent bleeding, increased age and inhibitor development. Patients with severe hemophilia had development inhibitors in 30%, compared to moderate and mild with 3 and 0.3%, respectively.

Comprehensive clinical and statistical analysis of hemophilia in Korea

A Total of 498 cases of hemophilia which were reported by sixteen medical centers in Korea were reviewed and analyzed. Hemophilia A comprised 425 cases (85.3%) and the remaining 73 cases (14.7%) were hemophilia B. One case was female and all other cases were male. There were known hemophilia patients in the family in 43.0% of cases and the involved members were brothers, maternal cousins, maternal uncles, and maternal grandfathers in descending order of frequency. The major symptoms of the patients were hemorrhagic, such as easy bruising and hemarthrosis followed by prolonged bleeding after trauma and soft tissue hematoma. The incidence of hemarthrosis increased significantly with age. The pediatric age group below the age of 15 consisted of 67.1% of the cases. According to the age at diagnosis, half (54.2%) of the severe cases were diagnosed before the age of 1 year. APTT was prolonged over 40 seconds in all cases and 291 cases showed severe prolongation over 80 seconds. Of 498 cases 273 cases (54.8%) belonged to the severe form (factor VII or IX level, less then 1%), whereas 182 cases (36.5%) and 43 cases (8.7%) belonged to the moderate (factor VIII or IX, 2-5%) and mild form (factor VIII or IX, 6-25%), respectively, Chronic arthropathy was present in 236 cases (49.6%), and the incidence increased significantly with age. The management of chronic arthropathy most commonly employed was rehabilitation in 25.4% of cases, but in 50.8% no management was given at all. The involved joints in descending order of frequency were knees, elbows and ankles. The complications were intracranial hemorrhage, Gl bleeding and nerve palsy in 48, 24, and 13 cases, respectively.

Comprehensive clinical and statistical analysis of hemophilia in Korea

A Total of 498 cases of hemophilia which were reported by sixteen medical centers in Korea were reviewed and analyzed. Hemophilia A comprised 425 cases (85.3%) and the remaining 73 cases (14.7%) were hemophilia B. One case was female and all other cases were male. There were known hemophilia patients in the family in 43.0% of cases and the involved members were brothers, maternal cousins, maternal uncles, and maternal grandfathers in descending order of frequency. The major symptoms of the patients were hemorrhagic, such as easy bruising and hemarthrosis followed by prolonged bleeding after trauma and soft tissue hematoma. The incidence of hemarthrosis increased significantly with age. The pediatric age group below the age of 15 consisted of 67.1% of the cases. According to the age at diagnosis, half (54.2%) of the severe cases were diagnosed before the age of 1 year. APTT was prolonged over 40 seconds in all cases and 291 cases showed severe prolongation over 80 seconds. Of 498 cases 273 cases (54.8%) belonged to the severe form (factor VII or IX level, less then 1%), whereas 182 cases (36.5%) and 43 cases (8.7%) belonged to the moderate (factor VIII or IX, 2-5%) and mild form (factor VIII or IX, 6-25%), respectively, Chronic arthropathy was present in 236 cases (49.6%), and the incidence increased significantly with age. The management of chronic arthropathy most commonly employed was rehabilitation in 25.4% of cases, but in 50.8% no management was given at all. The involved joints in descending order of frequency were knees, elbows and ankles. The complications were intracranial hemorrhage, Gl bleeding and nerve palsy in 48, 24, and 13 cases, respectively.