Palabras clave
Tratamiento farmacológico
Colesterol
LDL
Mutación
Cómo citar
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Resumen
Objetivo: Reportar el impacto de la mutación C681X en el tratamiento del hipercolesterolemia familiar homocigota. Detalles del caso: Paciente varón de 17 años con antecedentes de hipercolesterolemia (LDL-c: 760 mg/dl), xantomas tuberosos y arcos corneales desde los siete años. La prueba genética confirmó la mutación homocigota C681X en el receptor LDL, sin alteraciones cardiovasculares. El padre, la madre y el hermano presentaban hipercolesterolemia con LDL-c >190mg/dl. La abuela y el tío maternos murieron de infarto agudo de miocardio antes de los 50 años. Inició tratamiento con Atorvastatina 40mg/día y Ezetimiba 10mg/día. Posteriormente, la atorvastatina se cambió por rosuvastatina 40 mg/día. A los 11 años, inició triple terapia con Mipomersen 200mg, mostró respuesta adecuada después de 1 año. El fármaco se suspendió debido a la baja seguridad para su edad, aumentando los niveles de LDL-c. A los 13 años, utilizó Evolocumab (inhibidor de PCSK9), a dosis de 140mg, asociado a Rosuvastatina y Ezetimiba. Después de un año, en terapia triple, los resultados fueron CT: 561 mg/dL; HDL-c: 27 mg/dL; LDL-c: 512 mg/dL; y TG: 110 mg/dL. Consideraciones finales: La paciente regresó después de 3 años sin consultas, tomando Atorvastatina 40mg/día, Ezetimiba 10mg/día y Evolocumab 140mg cada 15 días, sin control adecuado. Se realizó ajuste de medicación y se derivó a seguimiento multiprofesional.
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