This case highlights the importance of a team-based approach to resolve phenotype-genotype discordance in suspected familial hypercholesterolemia to avoid misdiagnosis.
We present a case of a young adult diagnosed with homozygous familial hypercholesterolemia despite a normal lipid panel (Table 1). 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.
Speron et al. (Sun,) studied this question.