RESUMO
Abstract Background: People with haemophilia (PwH) are living longer. Therefore, they can develop atherosclerotic cardiovascular disease (ASCVD). Electrocardiogram (ECG) alterations may be a sign of initial ASCVD before the occurrence of symptoms. Objective: To describe the prevalence of resting ECG alterations among PwH adults asymptomatic for ASCVD. Methods: PwH aged ≥ 30 years without previous ASCVD events were considered for the analysis. Resting ECG traces were analysed according to international reference values and the Brazilian Longitudinal Adult Health Study (ELSA-Brasil) results for asymptomatic Brazilian men. Based on the established normal values and using the QT index, we further described the altered ECGs as minor or major changes, according to the Minnesota Code. Differences between prevalences were evaluated by Pearson's χ2 test. Differences between medians were evaluated by the Mann-Whitney U test. A p-value < 0.05 was accepted as statistically significant. Results: A total of 64 PwH were included in the study. Median age was 44 years (interquartile range 35-52). Most patients had haemophilia A (81%) and 47% were severe. The prevalence of obesity, systemic arterial hypertension (SAH), diabetes mellitus (DM), and dyslipidaemia were 16%, 56%, 14%, and 72%, respectively. All the PwH had sinus rhythm, except for one, who had an implanted pacemaker due to idiopathic third-degree atrioventricular block. Altered ECGs were found in 25% and 30% of PwH, according to established criteria and ELSA-Brasil criteria, respectively. Major changes were found in eight (13%) PwH according to the Minnesota Code, including two ECGs with ischaemia-like wall inactivity. Conclusions: The prevalence of altered ECG varied from 25% to 30% among asymptomatic PwH.
RESUMO
Aim: To highlight the diagnosis of haemophilia B in 5 Nigerian brothers as well as the diagnostic and management challenges inherent in resource-poor settings. Presentation of Cases: We report the cases of 5 brothers with ages ranging from 2 years to 13 years seen at the paediatric out-patient unit of the Federal Medical Centre Azare, Nigeria. They presented with complaints of abnormal and excessive bleeding since the neonatal period. Bleeding was often provoked by events ranging from traditional uvulectomies, dental exfoliation to circumcisions and was severe enough to require blood transfusions in some instances. Following diagnosis, genetic counseling was offered to the family and plans put in place to commence administration of prophylactic factor IX concentrate. Discussion: The peculiarity in these cases is the large number of affected individuals in one family. This is made more remarkable by the fact that haemophilia B (HB) is extremely rare in Nigeria. The reason for the relative rarity of HB in Nigeria is not known. However, it is recognized that the genetic mutations associated with HB are diversely distributed and often show variations between and across ethnic groups. This may account for the spread and variability in clinical manifestations of the disease. Conclusion: Haemophilia B though very rare may cluster in individual families. The unavailability, as well as the high cost of coagulation factor concentrates in resource-poor settings remains a significant challenge for physicians and patients alike.
RESUMO
Las Hemofilias A y B se consideran enfermedades hereditarias ligadas al sexo debidas a mutaciones en los genes que codifican para los factores VIII y IX respectivamente, ocasionando deficiencia en los niveles de la concentración plasmática de estas proteínas y cuyos roles son los de participar activamente en el mecanismo de la coagulación sanguínea. Se han reportado diversas mutaciones responsables de la alteración de estos genes; razón por la cual resulta poco práctico la aplicación de un método de diagnóstico molecular directo para la identificación de mujeres portadoras, por ello, una estrategia diagnóstica apropiada es el análisis indirecto de polimorfismos ligados al gen. El objetivo de este trabajo fue identificar mujeres portadoras en diversas familias con antecedentes de HA y HB residentes del estado Zulia, en Venezuela, caracterizando polimorfismos intragénicos de los genes del factor VIII y factor IX, los cuales permitieron asignar haplotipos y diagnosticar o descartar el estado portador al 95 por ciento de las mujeres que requerían el estudio para HA y al 100 por ciento para HB.
Haemophilia A and B are considered sex-linked inherited diseases caused by mutations in genes that encode factors VIII and IX, respectively. This results in the deficiency of these proteins plasma levels which are actively involved in the mechanism of blood coagulation. It has been reported that several mutations are responsible for the alteration of these genes, which is why the application of a molecular diagnostic method for the direct identification of female carriers is impractical. An appropriate diagnostic strategy is the indirect analysis of polymorphisms linked to the gene. The aim of this study was to identify female carriers in different families with history of HA and HB that live in Zulia State, Venezuela, characterizing intragenic gene polymorphisms of the clotting factors VIII and IX, which helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95 percent of women who were needing the study for HA and to 100 percent for HB.