Protocolo de estudio bioquímico de hipercolesterolemia familiar en un niño de 6 años

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 ®).