Homozygous familial hypercholesterolaemia. Report of three cases
Mishra, S.K.; Bose, T.K.; Das, B.S.
Journal of the Association of Physicians of India 39(4): 344-345
1991
ISSN/ISBN: 0004-5772 PMID: 1938824 Document Number: 372309
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.