La Candelaria investiga nuevos factores genéticos implicados en el angioedema hereditario

Investigadores del Hospital de La Candelaria.

Alergólogos e investigadores del centro han recibido una beca de la Fundación de la Sociedad Española de Alergología e Inmunología Clínica (Seaic) para estudiar mutaciones no descritas de esta patología mediante técnicas de secuenciación genética.

Se trata de una enfermedad rara que se caracteriza por presentar episodios de hinchazón en cualquier parte del cuerpo y que puede ser mortal si afecta a las vías respiratorias.

Un trabajo científico liderado por alergólogos e investigadores del Hospital Universitario Nuestra Señora de Candelaria, en Tenerife, adscrito a la Consejería de Sanidad del Gobierno de Canarias, ha recibido una beca de la Fundación de la Sociedad Española de Alergología e Inmunología Clínica para estudiar la identificación de nuevos factores genéticos implicados en el angioedema hereditario (AEH) y evaluar las posibilidades diagnósticas que ofrecen las tecnologías de secuenciación masiva en esta enfermedad.

En este sentido, el trabajo que están realizando de forma conjunta el servicio de Alergología y el grupo de Variación Genética y Enfermedad de la Unidad de Investigación del Hospital de La Candelaria, con la colaboración del ITER, busca encontrar mutaciones genéticas diferentes a las ya secuenciadas, responsables de  esta enfermedad poco conocida entre la comunidad médica general.

Se trata de una patología rara de carácter hereditario que afecta a la piel, tracto gastrointestinal o vías aéreas superiores e incluso a otros órganos, caracterizada por la hinchazón sin motivo aparente de estas partes del cuerpo. Según la zona donde se produzca puede comprometer la vida del paciente, como es el caso de la obstrucción de las vías aéreas y casos de asfixia en sus manifestaciones más grave.

El angioedema hereditario se manifiesta desde los primeros meses de vida aunque la mitad de los pacientes debutan con episodios entre los 10 y 15 años, que bien puede aparecer de manera espontánea o desencadenarse por circunstancias como estrés, infecciones, traumatismos, intervenciones o factores hormonales.

Según detalla Ariel Callero, alergólogo del Hospital Universitario Nuestra Señora de Candelaria y uno de los coordinadores de la investigación, “puesto que es una enfermedad cuyo diagnóstico se produce de forma tardía, este trabajo ofrecerá una incuestionable ayuda en el diagnóstico certero y precoz de esta patología. Así podríamos ofrecer en el futuro protocolos de actuación para abordarla con mayor celeridad”.

Metodología

El estudio observacional que se está desarrollando por parte del servicio de Alergología y del grupo de Variación Genética y Enfermedad de la Unidad de Investigación del Hospital Universitario Nuestra Señora de Candelaria, en Tenerife, se realiza por fases.

La primera de ellas consiste en establecer un censo de pacientes con angioedema hereditario establecidos en los archipiélagos de la Macaronesia de España y Portugal.

Una vez localizados a estos pacientes, se les ofrecerá la posibilidad tanto a ellos como a sus familiares directos de participar en este proyecto de forma voluntaria hasta obtener una cohorte de 60 personas que faciliten datos clínicos y muestras biológicas para su estudio.

Posteriormente, se utilizarán técnicas de secuenciación genómica avanzada para descubrir aquellos genes afectados por la enfermedad y determinar nuevos factores causales en este grupo seleccionado de pacientes.

En este sentido, el doctor Carlos Flores, investigador y coordinador del Grupo de Variación Genética y Enfermedad de la Unidad de Investigación del Hospital de La Candelaria explica que “poder utilizar tecnología avanzada de secuenciación genómica de alto rendimiento permitirá ofrecer una mayor eficiencia en el diagnóstico de pacientes con angioedema hereditario”.

El equipo de alergólogos y científicos del centro hospitalario público espera pasar a formar parte de la Red Internacional para el estudio del Angioedema Hereditario,  gestionada por la European Academy of Allergy and Clinical Immunology.

 

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