La
hipercolesterolemia familiar (HF) es una de las
enfermedades hereditarias más frecuentes, afectando a
unas 10 millones de
personas en todo el mundo. Se caracteriza por niveles elevados de c-LDL y por una elevada
prevalencia de
enfermedad cardiovascular prematura. La HF se origina por mutaciones en el gen que codifica el receptor de c-LDL. Presentamos el caso de un
niño de 6 años que es remitido al
laboratorio de
Riesgo Cardiovascular (RCV) por sospecha de
hipercolesterolemia familiar . Se le realiza una
bioquímica general y un perfil de RCV, donde se observa un
colesterol total y un c-LDL elevado, con el resto de los
parámetros dentro de los rangos de
normalidad . Se procede a la confirmación de la HF heterocigota mediante la
determinación de la
mutación del receptor de c-LDL (Lipochip(R)) mediante
análisis genético (AU)
Familial hypercholesterolaemia (FH) is one of the most common
hereditary diseases , affecting about 10 million people around the world. It is characterised by high levels of c-LDL, and a high
prevalence of premature
cardiovascular disease . It is caused by
mutations in the
gene that encodes the c-
LDL receptor . We present the case of a 6 year-old
child who was referred to the
Cardiovascular Risk (CRV)
Laboratory due to suspicion of familial hypercholesterolaemia. General
biochemistry analysis and a CRV profile were performed, showing a high total
cholesterol and c-LDL. As the
rest of
parameters were within the
normal ranges ,
secondary causes of hypercholesterolaemia, such as
hypothyroidism and diabetes, were ruled out. The presence of the FH
heterozygote was confirmed by determining the
mutation of the c-
LDL receptor mutation by
gene analysis (Lipochip (R)) (AU)
