La hemofilia una enfermedad genética

La hemofilia una herencia gentica

La hemofilia es una enfermedad genética hereditaria que impide la coagulación de la sangre. En caso de lesión, puede ser difícil para las personas con EM detener el flujo.

Los pacientes no sangran más que otros, pero por más tiempo, porque el coágulo sólido que se supone que se forma durante el proceso de coagulación no “aguanta”.

Estas hemorragias anormalmente largas también pueden ocurrir espontáneamente, especialmente en las articulaciones, y causar sangrado severo.

Esta incapacidad de la sangre para coagularse se debe en realidad a una mutación, que resulta en la falta o ausencia de producción de proteínas llamadas “factores de coagulación”.

Estas modificaciones genéticas pueden ser de naturaleza variable y definir la gravedad de la enfermedad (menor, moderada, grave).

Predominan dos tipos principales de hemofilia: la hemofilia A (factor VIII), la más común, y la hemofilia B (factor IX) o enfermedad de Navidad, cinco veces más rara.

¿Cómo se diagnostica?

Hereditaria, la hemofilia se transmite sólo a través del cromosoma X, que transporta los genes que producen las proteínas implicadas. Los niños (XY) sólo tienen una copia de este cromosoma X, por lo que se enferman sistemáticamente si hay un gen mutado presente.

Así, 1 de cada 6.000 niños sufre de hemofilia A, y 1 de cada 3.000 sufre de hemofilia B, de nuevo según las cifras de la Red FranceCoag. Por otro lado, las niñas (XX) con dos cromosomas X sólo se enferman si hay un gen mutado en ambos cromosomas, una situación muy rara. Sin embargo, pueden ser portadores silenciosos de la mutación genética.

Luego, la patología se diagnostica rápidamente, ya que los síntomas pueden aparecer tan pronto como a los 3 meses de edad. Si el niño tiene sangrado excesivo o inexplicable o antecedentes familiares, se verifican sus niveles de factor VIII y IX mediante un análisis de sangre.

¿Cuáles son los síntomas principales?

Desde los primeros pasos, aparecen moretones superficiales. Las principales señales son el sangrado excesivo y la aparición rápida de moretones.

Aunque la secreción por lesiones externas (cortes, mordeduras en la boca, hemorragias nasales) generalmente no es una preocupación, la hemorragia interna puede ser peligrosa.

Pueden causar hematomas en las articulaciones y los músculos, que comprimen los vasos sanguíneos y los nervios cercanos y deben ser extirpados quirúrgicamente.

Complicaciones de la hemofilia

Si estas hemorragias no se tratan, pueden provocar derrames y crear hemartrosis. Estos causan hinchazón de las articulaciones, dolor y pérdida de flexibilidad. En las recidivas, el cartílago puede degradarse a artropatía hemofílica. La unión entre los huesos se debilita, se deteriora, se deforma. Esto conduce a una pérdida de movilidad en las personas que la padecen.

Incluso puede ocurrir un sangrado más severo, ya que puede alcanzar el pecho, el abdomen o el cerebro. Sangrado que incluso pone en peligro la vida. La hemorragia cerebral, en particular, es una de las complicaciones más graves de la hemofilia.

Puede producirse tras un ligero golpe en la cabeza o un traumatismo craneal más grave, y se manifiesta en los siguientes signos: dolor de cabeza, vómitos, somnolencia, comportamiento inusual, debilidad repentina de las extremidades, problemas de visión, convulsiones….

¿Cuáles son los tratamientos?

Actualmente no existe cura para la enfermedad, pero existen tratamientos efectivos para reducir el riesgo de hemorragia, incluyendo fármacos antihemofílicos. El principio es inyectar por vía intravenosa el factor coagulante que falla: VIII para la hemofilia A o IX para la hemofilia B.

Estos sustitutos pueden ser derivados de sangre humana, tratados para prevenir infecciones virales o producidos por ingeniería genética. Luego se denominan recombinantes. Independientemente del antihemofílico utilizado, el tratamiento se prescribe en dos circunstancias:

  • En caso de accidente hemorrágico: para evitar secuelas, se deben tomar sustitutos lo antes posible.
  • En preventivo: esto se llama profilaxis. En la hemofilia moderada a grave, el paciente inyecta el factor coagulante faltante dos o tres veces por semana. Este tratamiento puede ser primario, es decir, se inyecta sistemáticamente antes de que el niño cumpla los 2 años, incluso antes de que desarrolle la hemorragia. Si es secundaria, se administra a niños mayores de 2 años y adultos cuando existe un riesgo conocido de hemorragia (cuando ya se ha producido una intervención, por ejemplo) o después de un traumatismo.

Precauciones diarias para hemofílicos

  • Si no hay manera de prevenir la aparición de la enfermedad, las precauciones pueden hacer la vida más fácil a las personas con hemofilia:
  • Use pocos analgésicos como la aspirina, que diluye la sangre;
  • Evite los medicamentos antiinflamatorios no esteroideos, que interfieren con el proceso de coagulación;
  • Prohibir los deportes de alto riesgo, que conllevan un riesgo de shock;
  • Realizar una actividad física suave y regular y practicar fisioterapia, para prevenir la aparición de secuelas articulares y musculares.

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