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Publication details
A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
Authors | |
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Year of publication | 2021 |
Type | Article in Periodical |
Magazine / Source | Journal of Clinical Lipidology |
MU Faculty or unit | |
Citation | |
web | https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#! |
Doi | http://dx.doi.org/10.1016/j.jacl.2021.04.006 |
Keywords | Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis |
Description | 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. |