title: Genetic testing of familial hypercholesterolemia in a real clinical setting.
abstract: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by strikingly elevated low-density lipoprotein (LDL) cholesterol levels and premature atherosclerosis. For individuals with a definite or probable diagnosis of FH, molecular genetic testing is recommended. This can be justified in countries where genetic testing is broadly available and covered. On the other hand, in countries with limited access to genetic testing, it can be argued whether it is necessary and cost-effective to perform genetic testing in patients with a proven clinical diagnosis of FH. This article presents a family with FH where different family members manifested different phenotypes and discusses situations where genetic diagnosis can crucially help physicians in clinical decision-making on how to approach and treat patients.
authors.affiliation: Co-ordination Center for Familial Hyperlipidemias, Slovak Medical University in Bratislava, Limbova 12, 833 03, Bratislava, Slovakia. bvohnout@yahoo.com.|Institute of Nutrition, FOaZOS, Slovak Medical University in Bratislava, Bratislava, Slovakia. bvohnout@yahoo.com.
authors.forename: Branislav
authors.identifier: http://orcid.org/0000-0003-2284-4186
authors.initials: B
authors.lastname: Vohnout
authors.affiliation: DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
authors.forename: Dominika
authors.initials: D
authors.lastname: Gabcova
authors.affiliation: DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
authors.forename: Miroslava
authors.initials: M
authors.lastname: Huckova
authors.affiliation: DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
authors.forename: Iwar
authors.initials: I
authors.lastname: Klimes
authors.affiliation: DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
authors.forename: Daniela
authors.initials: D
authors.lastname: Gasperikova
authors.affiliation: Co-ordination Center for Familial Hyperlipidemias, Slovak Medical University in Bratislava, Limbova 12, 833 03, Bratislava, Slovakia.
authors.forename: Katarina
authors.initials: K
authors.lastname: Raslova
mesh_terms: D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D000071449:Proprotein Convertase 9 / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D001055:Apolipoproteins B; D005819:Genetic Markers; C573412:LDLR protein, human; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9
keywords: Apolipoproteins; Diagnosis; Familial hypercholesterolemia; LDL cholesterol; Molecular genetics