Author: Clin A/Prof Shubha Srinivasan

Homozygous familial hypercholesterolaemia (HoFH) is the most severe form of FH and usually presents in childhood. It is rare, affecting about 1:300,000 people and occurs when a person inherits 2 faulty copies of the LDL receptor gene (or sometimes other genes which cause FH), one from each parent. As a result, the LDL cholesterol (LDL-C)…