Abstract
Type III hyperlipoproteinaemia is a familial disorder characterized by increased serum total cholesterol and triglyceride levels and the presence of abnormal lipoproteins called b-VLDL. Apolipoprotein E (apo-E) plays a crucial role in the development of type III hyperlipoproteinaemia.
The apo-E gene locus in humans is polymorphic. There are three common alleles, designated e2, e3 and e4, coding three major apo-E isoforms in plasma (E2, E3 and E4).
The isoform E3 is most frequently observed in the normal population. The phenotype typical for type III hyperlipoproteinaemia is apo-E2/E2 (1), but there are other metabolic or hormonal factors (e.g. diabetes, obesity and hypothyroidism) that are necessary for manifestation of the disorder.
We present the case of a 16-y-old girl examined by her gynaecologist because of primary amenorrhoea.