Homozygous familial hypercholesterolaemia. Report of three cases.
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.
Mishra
S K
SK
Medical Service, Ispat General Hospital, Rourkela.
Bose
T K
TK
Das
B S
BS
D000293:Adolescent; D000328:Adult; D002648:Child; D002784:Cholesterol / Q000097:blood; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood; D008297:Male; D014280:Triglycerides / Q000097:blood
D014280:Triglycerides; D002784:Cholesterol