Revista internacional de investigación cardiovascular

Clinically Diagnosed Homozygous Familial Hypercholesterolemia-rare entity

Shivani Rao1*, Rajeev Bhardwaj2 and PC Negi3

Familial Hypercholesterolemia (FH) is a rare autosomal dominant genetic disorder characterized by raised levels of Low-Density Lipoprotein Cholesterol (LDL-C). Homozygous type of familial hypercholesterolemia is very rare entity with incidence of one in a million. They are very few case reports of this entity reported in India. We present a 7-year-old male child presenting to the department of cardiology with clinical features of homozygous type of FH such as corneal arcus ,multiple xanthomas and laboratory features suggestive of hypercholesterolemia. His father had similar features of hypercholesterolemia. The patient was started on statins. The patient was lost to follow up.