Clinical scenario of primary dyslipidaemia in the paediatric age group; an Egyptian experience

To study the frequency of occurrence of the different forms of primary dyslipidaemia, to display their various clinical presentations and their lipid profile before and six months after therapy.

Prospective study was conducted in the Cairo University Childrens' Hospital. Twenty primary dyslipidaemic cases were included with history taking, clinical examination, electrocardiography and echocardiography. Investigations included: Total cholesterol, total triglycerides, LDL-C and HDL-C using enzymatic colorimetric methods, ApoA1, Apo B100 were evaluated using a Behring nephelometer. Different therapeutic modalities were offered and reassessment of laboratory tests was done every three months.

Parents were consanguineous in 75%. Eleven cases had hypercholesterolaemia; eight had xanthoma, one had xanthelasma, two had hypo pigmentation, three had corneal arcus, one had lipaemia retinalis and six had cardiac manifestations among which one case had myocardial infarction and one case died. Three cases had hypertriglyceridaemia; three had milky plasma, two had xanthoma, two had lipaemia retinalis, one case had pancreatitis and none had cardiac manifestations. Six cases had mixed hyperlipidaemia; five had xanthoma, three had lipaemia retinalis and two had cardiac manifestations. After six months of multi-drug use, the laboratory lipid profile was unsatisfactory in majority of the cases.

Primary dyslipidaemia may present early and paediatricians should have high index of suspicion. These children should be put on early strict lipid reduction protocols to prevent complications.