A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms.

doi:10.1016/j.jacl.2021.04.006

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Article

A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms.

Journal of clinical lipidology - 1 Jan 2000

Kyselak Ondrej, Soska Vladimir, Kovar Jan, Tichy Lukas, Grombirikova Hana, Hubacek Jaroslav A, Freiberger Tomas

Abstract excerpt

We describe the casuistry of a homozygous familial hypercholesterolemia female patient with a biallelic missense variant (NM_000527.4:c.1775G>A, p.Gly592Glu) in the LDLR gene, severe hypertriglyceridemia and late manifestation of coronary heart disease not earlier than at the age of 45 years. An atypical phenotype led to a delayed diagnosis.

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Identifiers

PMID: 33975813
DOI: 10.1016/j.jacl.2021.04.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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