Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2026 Feb 3:S1933-2874(26)00024-3.
doi: 10.1016/j.jacl.2026.01.021. Online ahead of print.

A case of presumed homozygous familial hypercholesterolemia

Dimitri Speron  1 , Daniel E Soffer  2 , Neil J Stone  3 , Lisa Wilsbacher  4
Affiliations

A case of presumed homozygous familial hypercholesterolemia

Dimitri Speron et al. J Clin Lipidol. .

Abstract

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.

Keywords: Dyslipidemia; Familial hypercholesterolemia; Genetic screening; Genetics; Hypercholesterolemia in pregnancy.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

LinkOut - more resources