A case of presumed homozygous familial hypercholesterolemia.

Abstract excerpt

We present a case of a young adult diagnosed with homozygous familial hypercholesterolemia despite a normal lipid panel. A deeper dive into the details of the genotype resulted in recharacterization of the genetic diagnosis. The observed phenotype-genotype discordance reflects the importance of a team-based approach to guide patients and avoid misdiagnosis and optimize treatment strategies.

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