Publications by authors named "H Dieplinger"
Article Synopsis
- Routine genetic testing for hypercholesterolemia identifies a causative monogenic variant in less than 50% of patients due to additional polygenic factors influencing cholesterol levels.
- The study analyzed 1,020 individuals, including 252 with clinically diagnosed hypercholesterolemia, using advanced sequencing methods and genetic score calculations to identify 9 new variants in the LDLR gene.
- Integrating genetic scores, particularly for lipoprotein(a) (Lp(a)), improved identification of clear disease causes to 68.8%, emphasizing the significance of Lp(a) in hypercholesterolemia and suggesting that better testing methods could lead to more tailored treatment strategies.
Background And Aims: FH is still underdiagnosed. Cost-effectiveness results of preventive screening strategies vary. We aimed at systematically assessing the benefits, harms and cost effectiveness of screening for familial hypercholesterolemia (FH) and at providing an overview of the main characteristics and methodological approaches of applied decision-analytic models.
View Article and Find Full Text PDF[Genetic diseases of lipid metabolism - Focus familial hypercholesterolemia].
Dtsch Med Wochenschr
April 2022
Congenital disorders of lipid metabolism are characterised by LDL-C concentrations > 190 mg/dl (4.9 mM) and/or triglycerides > 200 mg/dl (2.3 mM) in young individuals after having excluded a secondary hyperlipoproteinemia.
View Article and Find Full Text PDFObjectives: In the general population, increased afamin concentrations are associated with the prevalence and incidence of metabolic syndrome as well as type 2 diabetes. Although metabolic syndrome is commonly associated with nonalcoholic fatty liver disease (NAFLD), there exist no information on afamin and NAFLD.
Methods: Afamin concentrations were cross-sectionally measured in 146 Austrian patients with NAFLD, in 45 patients without NAFLD, and in 292 age- and sex-matched healthy controls.
Serum Afamin a Novel Marker of Increased Hepatic Lipid Content.
Front Endocrinol (Lausanne)
December 2021
Aim: Afamin is a liver-produced glycoprotein, a potential early marker of metabolic syndrome. Here we investigated regulation of afamin in a course of the metabolic disease development and in response to 3-month exercise intervention.
Methods: We measured whole-body insulin sensitivity (euglycemic hyperinsulinemic clamp), glucose tolerance, abdominal adiposity, hepatic lipid content (magnetic resonance imaging/spectroscopy), habitual physical activity (accelerometers) and serum afamin (enzyme-linked immunosorbent assay) in 71 middle-aged men with obesity, prediabetes and newly diagnosed type 2 diabetes.