Compound Heterozygous Familial Hypercholesterolemia Detected by Cascade Screening

This report outlines the case of a 13-year-old non-Hispanic White male diagnosed with compound heterozygous Familial Hypercholesterolemia (FH) with a biallelic mutation in the LDLR gene. Notable clinical manifestations of the disease were observed such as: tendon xanthomas, total LDL-C and non-HDL that were all greater than or equal to the 95th percentile for age and sex.

The patient received diagnosis for compound heterozygous FH through cascade screening by identification of his sister who had been diagnosed with heterozygous FH. However, given the patient’s family history of hypercholesterolemia and adverse cardiovascular events, both patients should have been screened by the age of 2. This paper urges healthcare systems to consider stricter implementation of universal screening protocols for FH as these patients have a significantly higher risk for adverse cardiovascular events early in life without early intervention.