Shailaja Potdar, Jayesh Panot, Vandana Kumavat, Sunil Junagade
2017 Journal of Evolution of Medical and Dental Sciences  
BACKGROUND Familial Hypercholesterolaemia (FH) is a monogenetic autosomal codominant disorder caused by mutation affecting the LDL receptors. It is characterised by elevated LDL cholesterol, xanthomas and early Coronary Artery Disease (CAD). Homozygous Familial Hypercholesterolaemia (HoFH) is of a rare occurrence. Management of HoFH patients requires lifestyle modifications and medical therapy. Untreated homozygous patients rarely survive to adulthood. We report an 8 years old male child who
more » ... sented with multiple xanthomas over skin since 9 months and had deranged lipid profile consistent with Homozygous FH. On further evaluation, whole family had deranged lipid profile fulfilling criteria of familial hypercholesterolaemia. HOW TO CITE THIS ARTICLE: Potdar S, Panot J, Kumavat V, et al. Familial homozygous hypercholesterolaemia-a case report.
doi:10.14260/jemds/2017/319 fatcat:ma6d75lgxrdcrdaa6ltnpo5kty