[Severe type III hyperlipoproteinemia with unusual lipoprotein phenotype in an adolescent patient]

We report on a 17-year-old female patient with hyperlipidaemia, apoE2 homozygosity and characteristic dermatological features of type-III hyperlipoproteinaemia (HLP III). In contrast to the "classical" lipoprotein phenotype, with hypercholesterolaemia and hypertriglyceridaemia, in our case an elevated LDL cholesterol level was also present. To the best of our knowledge, this is the eleventh report in the literature of HLP III onset in a child or an adolescent. Treatment with several antilipidaemic drugs resulted only in a reduction of the serum triglyceride concentration, and not in an improvement of the hypercholesterolaemia or the elevated LDL cholesterol level. This therapeutic response was explained with reference to an uncommon association of the apoE2 homozygosity with the homo- or heterozygote state of familial hypercholesterolaemia. Another explanation for this phenomenon is the possible combination of the apoE2 homozygosity with a familial apolipoprotein-B 100 defect that has only recently come to light.