Background and Aims : We aimed to elucidate the cause of hypercholesterolemia in two patients presenting with LDL-C levels >15 mmol/L.
Methods: We performed next-generation sequencing (NGS) on FH genes and performed routine and FPLC analysis on lipoprotein subfractions. We assessed liver fat content using controlled attenuation parameter (CAP) based on vibration-controlled transient elastography (FibroScan) and magnetic resonance spectroscopy (MRS). We screened for early atherosclerosis using carotid ultrasound. Dietary intake was verbally assessed by dietary recall.
Results: Subject A and B are healthy males (aged 33 and 28 years) presenting to our lipid clinic with LDL-C levels of 15 and 17 mmol/L, respectively. Subject used no medications and had no family history of (premature) cardiovascular disease. NGS revealed no pathogenic FH-variants. 1 year prior to presentation, subjects started a carnivorous diet consisting solely of meat, fish and dairy products. Energy intake from carbohydrates was <3 E-% (6-10 g), whereas intake from protein was 37 E-% and fat was 60 E-%. Detailed analysis of lipoprotein subfractions showed disproportionately elevated number of VLDL and IDL particles (Figure 1) suggesting lipoprotein overproduction as possible cause for hypercholesterolemia. Alternatively, we hypothesized downregulated LDL-C uptake due to abundance of cholesterol and fatty acids in hepatocytes, but FibroScan and MRS showed low levels of liver fat (<1%). Carotid ultrasound revealed intima-media thickening (>97th and 90th percentile, respectively) suggesting early development of atherosclerosis.
Conclusions: We present two patients with extremely elevated LDL-C levels due to a carnivorous, ketogenic diet. Subjects agreed to reintroduce carbohydrates to their diets and a repeat cholesterol profile is pending.
Article info
Publication history
EP458 / #1135 Topic: ASA03 - DYSLIPIDEMIA AND RISK FACTORS / ASA03-07 Environmental risk factors POSTER VIEWING SESSION
Identification
Copyright
© 2022 Published by Elsevier Inc.
00975-3&id=fx1.jpg){kind=link}