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Concentración de triptasa y otros mediadores
En el diagnóstico del SAM (mastocitosis incluida), el estudio de laboratorio fundamental es la determinación de la concentración sérica de triptasa.19 Si es <15 ng/ml y no aumenta en períodos de síntomas, no se considera algo significativo, por lo que en caso de no presentarse MEP, el paciente solo precisa de controles periódicos en su centro de salud. Una concentración de triptasa >25 ng/ml supone una indicación para la biopsia por trepanación y la biopsia de médula ósea, con valoración histológica, citológica, citométrica (CD2 y CD25) y molecular (mutación del gen KIT).19 Si la concentración de triptasa es de 15-25 ng/ml, se debe evaluar al paciente con la escala REMA. Si el paciente obtiene ≥2 puntos en la escala REMA o se confirma la mutación D816V del gen KIT en sangre periférica, también se deben realizar las pruebas de médula ósea previamente mencionadas.18
La concentración elevada de triptasa en suero no es específica del SAM y puede observarse en otras enfermedades.2 Las más frecuentes son las neoplasias del sistema hematopoyético: leucemias crónicas (mieloide, eosinofílica, basofílica), leucemias agudas (basofílica, mieloide), síndromes mielodisplásicos y neoplasias mieloproliferativas con mutación de PDGFR o FGFR.2,29 Otras causas del aumento reactivo de la concentración sérica de triptasa pueden ser enfermedades alérgicas mal controladas, urticaria crónica, enfermedades inflamatorias crónicas, infestaciones parasitarias, insuficiencia renal terminal o hipertriptasemia familiar.2 La concentración alta de triptasa es poco frecuente en las personas sanas. La presencia de anticuerpos heterófilos aumenta falsamente estos valores.2
Otros marcadores de la activación mastocitaria excesiva son las sustancias mencionadas en el segundo criterio de diagnóstico del SAM (véase más arriba).30 Se considera resultado positivo cuando la concentración de ≥2 mediadores aumenta ≥50 % justo después de la aparición de los síntomas, en comparación con la concentración en el período asintomático.2
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