Familial Hypercholesterolemia (Type 2a) in a 6-Year-Old: A Case Study

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia. FH is a genetic disorder characterized by elevated serum LDL (low-density lipoprotein) levels. Elevated LDL levels are associated with premature atherosclerosis, premature cardiovascular diseases (CVD), and the presence of xanthomas. Homozygous FH is a rare condition with 1 in 1 million occurrences in the general population. For the prevention of premature CVD early diagnosis and treatment is of paramount importance. Statins are the mainstay of treatment with newer lipid-lowering therapies like (PCSK9) inhibitors, and ezetimibe being utilized to treat the condition. Today we discuss a case of a 6-year-old boy presenting with FH with supra-valvular aortic stenosis and xanthomas.

View Pdf

Author: Akshitha Palabindela

Leave a Reply

Your email address will not be published. Required fields are marked *