A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
|Year of publication
|Article in Periodical
|Magazine / Source
|Journal of Clinical Lipidology
|MU Faculty or unit
|Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis
|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.