LDLR and homozygous familial hypercholesterolemia: The criteria for the diagnosis of HoFH are usually based on a combination of several clinical observations: the initial presentation may be a child with skin lesions, LDL-C level of 650–1,000 mg/dl (6), and serum fasting cholesterol level of >13 mmol/L (>500 mg/dl) (7, 8), and positive mutation in LDLR, apoB100, PCSK9, or LARD gene.