Homozygous familial hypercholesterolaemia. Report of three cases.

ABSTRACT

Homozygous familial hypercholesterolaemia is a rare disorder encountered in one in a million in the general population. Case reports of three patients from two families are presented. A 25 year male presented with extensive myocardial infarction and had a fatal outcome. His younger brother (14 years), as also a 12 year girl from another family with multiple planar xanthomata and tuberose xanthomata, are presented.