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A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms |
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| Authors: | Ondrej Kyselak Vladimir Soska Jan Kovar Lukas Tichy Hana Grombirikova Jaroslav A. Hubacek Tomas Freiberger |
| Affiliation: | 1. Department of Clinical Biochemistry, St. Anne''s University Hospital, Pekarska 53, 656 91 Brno, Czechia;2. Department of Laboratory Methods, Masaryk University, Komenskeho nam. 2, 602 00 Brno, Czechia;3. Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine (IKEM), Videnska 1958, 140 21 Prague, Czechia;4. Centre for Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, 613 00 Brno, Czechia;5. Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91 Brno, Czechia;6. Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czechia |
| Abstract: | 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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