Estudio de caso clínico varón de 24 años de edad previamente diagnosticado con hemofilia
Fecha
2016
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Universidad de Guayaquil. Facultad de Ciencias Químicas
Resumen
La hemofilia es una enfermedad genética que presenta complicaciones en la coagulación de la sangre. Al ser un problema hemorrágico, las personas que padecen de hemofilia pueden sangrar por un periodo de tiempo más prolongado de lo normal, esto debido a la carencia de proteínas necesarias para la coagulación de la sangre.
Según estudios realizados por la Federación Mundial de Hemofilia, aproximadamente
1 en 10.000 personas nace con hemofilia, por lo que no es una enfermedad frecuente.1 Existen tres tipos de hemofilias. Siendo la más común la hemofilia A, la cual es causada por la deficiencia del factor VIII. La hemofilia de tipo B es menos común, los pacientes que la padecen no tienen suficiente factor IX y la hemofilia C, que es por la insuficiencia del factor XI. Tanto para la hemofilia A y B, los resultados son los mismos, quiere decir un sangrado por un tiempo mayor que el normal.
Referente al caso de estudio clínico, se indica que un niño a la edad de 4 o 5 años fue diagnosticado con hemofilia, el cual fue tratado en episodios de hemorragia con plasma fresco congelado (FFP) y factor VIII. Cabe recalcar que sus padres son primos de primer grado y tiene una hermana que ha presentado hemorragias excesivas.
En los primeros resultados de laboratorio se registró un recuento sanguíneo normal y completo, que incluye, plaquetas, tiempo parcial y prolongado de aPPT y tiempo prolongado
de PT. Con estos resultados, se puede deducir que un PT prolongado da la sospecha de un trastorno hemorrágico de una etiología diferente, ya que las personas con enfermedad de hemofilia tipo A, B y C, típicamente tienen un aPPT prolongado pero un PT normal.
Posteriormente se realizaron exámenes en un laboratorio especializado en hematología, en el cual se determinaron las deficiencias de los factores de coagulación V y VIII, los cuales presentaron una disminución considerable en relación al intervalo de referencia. El análisis de los resultados apuntó a realizar pruebas de F5F8D, la cual es un raro trastorno autosómico recesivo en el que las concentraciones de plasma de los factores V y VIII han disminuido. Por lo tanto, los resultados de estudio de coagulación, los antecedentes de la familia y el informe clínico, indican que el diagnóstico más probable del paciente sea F5F8D, dado los estudios en los factores V y VIII.
El caso de estudio demuestra la importancia de confirmar el diagnóstico de un paciente, por lo que es fundamental realizar la cantidad necesaria de exámenes médicos para descartar errores y asegurar los resultados clínicos, con el fin de dar el tratamiento apropiado y real al paciente.
Hemophilia is a genetic disease has complications in blood clotting. As a bleeding problem, people with hemophilia can bleed for a period of longer than normal time, this due to lack of proteins required for blood clotting. According to studies by the World Federation of Hemophilia, about 1 in 10,000 people is born with hemophilia, so it is not a common disease. There are three types of hemophilia. The most common hemophilia A, which is caused by deficiency of factor VIII. Hemophilia B type is less common, patients who suffer from it do not have enough factor IX and hemophilia C, which is insufficient factor XI. Both hemophilia A and B, the results are the same, it means for bleeding greater than normal time. Concerning the case of clinical study indicated that a child at the age of 4 or 5 years was diagnosed with hemophilia, which was treated in bleeding episodes with fresh frozen plasma (FFP) and factor VIII. It should be noted that their parents are first cousins and has a sister who has presented excessive bleeding. In the first laboratory results and a normal complete blood count, including, platelets, part-time and prolonged APPT and prolonged PT time was recorded. With these results, we can deduce that a prolonged PT gives suspects a bleeding disorder of a different etiology, as people with hemophilia disease type A, B and C, typically have an extended appt but a normal PT. Subsequently examinations were performed in a specialized laboratory hematology, in which the deficiencies of coagulation factors V and VIII were determined, which showed a significant decrease relative to the reference interval. The analysis of the results suggests F5F8D testing, which is a rare autosomal recessive disorder in which plasma concentrations of factors V and VIII have decreased. Therefore, the results of coagulation studies, family history and clinical report, we find that the most likely diagnosis of the patient is F5F8D, given the studies V and VIII factors. The case of study demonstrates the importance of confirming the diagnosis of a patient, so it is essential to make the necessary amount of medical tests to rule out errors and ensure clinical outcomes, in order to give proper and actual patient treatment.
Hemophilia is a genetic disease has complications in blood clotting. As a bleeding problem, people with hemophilia can bleed for a period of longer than normal time, this due to lack of proteins required for blood clotting. According to studies by the World Federation of Hemophilia, about 1 in 10,000 people is born with hemophilia, so it is not a common disease. There are three types of hemophilia. The most common hemophilia A, which is caused by deficiency of factor VIII. Hemophilia B type is less common, patients who suffer from it do not have enough factor IX and hemophilia C, which is insufficient factor XI. Both hemophilia A and B, the results are the same, it means for bleeding greater than normal time. Concerning the case of clinical study indicated that a child at the age of 4 or 5 years was diagnosed with hemophilia, which was treated in bleeding episodes with fresh frozen plasma (FFP) and factor VIII. It should be noted that their parents are first cousins and has a sister who has presented excessive bleeding. In the first laboratory results and a normal complete blood count, including, platelets, part-time and prolonged APPT and prolonged PT time was recorded. With these results, we can deduce that a prolonged PT gives suspects a bleeding disorder of a different etiology, as people with hemophilia disease type A, B and C, typically have an extended appt but a normal PT. Subsequently examinations were performed in a specialized laboratory hematology, in which the deficiencies of coagulation factors V and VIII were determined, which showed a significant decrease relative to the reference interval. The analysis of the results suggests F5F8D testing, which is a rare autosomal recessive disorder in which plasma concentrations of factors V and VIII have decreased. Therefore, the results of coagulation studies, family history and clinical report, we find that the most likely diagnosis of the patient is F5F8D, given the studies V and VIII factors. The case of study demonstrates the importance of confirming the diagnosis of a patient, so it is essential to make the necessary amount of medical tests to rule out errors and ensure clinical outcomes, in order to give proper and actual patient treatment.
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HEMOFILIA, COAGULACIÓN, PLASMA, DIAGNÓSTICO