Dataset Information

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

ABSTRACT: BACKGROUND:Sitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays, meaning that sitosterolemia diagnosis can often be difficult, especially with many clinical features overlapping with familial hypercholesterolemia. With such complications resulting in increasing reports of misdiagnosis, the prevalence of sitosterolemia is predicted to be much higher than previously reported. METHODS:Gas chromatography-mass spectrometry was utilized to measure sitosterol levels of normocholesterolemic and hypercholesterolemic children. Subsequently, an epidemiologically determined cutoff level of sitosterol was calculated and applied to estimate the prevalence of children with increased sitosterol and identify potential sitosterolemia patients. Massively parallel sequencing was used to confirm the diagnosis in suspected patients. RESULTS:Samples from 109 normocholesterolemic and 220 hypercholesterolemic were tested for phytosterols. Sitosterol and campesterol levels were significantly increased in hypercholesterolemic children (mean 22.0±45.9 ?mol/L for sitosterol and 26.0±32.8 ?mol/L for campesterol) compared to normocholesterolemic children (mean 12.1±4.9 ?mol/L for sistosterol and 14.8±6.7 ?mol/L for campesterol). Via application of a cutoff of 35.9 ?mol/L, the prevalence rates for increased and overtly increased sitosterol in hypercholesterolemic children were 6.4% and 1.4% respectively. Furthermore, 3 suspected sitosterolemia patients were identified, with 2 patients receiving molecular confirmation for sitosterolemia diagnosis. CONCLUSIONS:Our findings reaffirm that the prevalence of sitosterolemia is probably much higher than previously reported, which also indicates the significant risk of misdiagnosis of sitosterolemia with familial hypercholesterolemia. Special lipid testing including sitosterol, especially in children with uncontrolled hypercholesterolemia, is recommended in children in order to identify potential sitosterolemia patients that would otherwise be neglected.

SUBMITTER: Lee JH

PROVIDER: S-EPMC7449458 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

Lee Joon Hee JH Song Da Young DY Jun Sun-Hee SH Song Sang Hoon SH Shin Choong Ho CH Ki Chang-Seok CS Lee Kyunghoon K Song Junghan J

PloS one 20200826 8

<h4>Background</h4>Sitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays, meaning that sitosterolemia diagnosis can often be difficult, especially with many clinical features overlapping with familial hypercholesterolemia. With such complications resulting in increasing reports of misdiagnosis, the prevalence ...[more]

PMID: 32845916

Similar Datasets

Project description:BackgroundIt is difficult to gain an overview of musculoskeletal extremity complaints in childhood although this is essential to develop evidence-based prevention and treatment strategies. The objectives of this systematic review were therefore to describe the prevalence and incidence of musculoskeletal extremity complaints in children and adolescents in both general and clinical populations in relation to age, anatomical site and mode of onset.MethodsMEDLINE and EMBASE were electronically searched; risk of bias was assessed; and data extraction was individually performed by two authors.ResultsIn total, 19 general population studies and three clinical population studies were included with children aged 0-19 years. For most of the analyses, a division between younger children aged 0-12 years, and older children aged 10-19 years was used. Lower extremity complaints were more common than upper extremity complaints regardless of age and type of population, with the most frequent pain site changing from ankle/foot in the youngest to knee in the oldest. There were about twice as many non-traumatic as traumatic complaints in the lower extremities, whereas the opposite relationship was found for the upper extremities in the general population studies. There were relatively more lower extremity complaints in the general population studies than in the clinical population studies. The review showed no pattern of differences in reporting between studies of high and low risk of bias.ConclusionsThis review shows that musculoskeletal complaints are more frequent in the lower extremities than in the upper extremities in childhood, and there are indications of a large amount of non-traumatic low intensity complaints in the population that do not reach threshold for consultation. A meta-analysis, or even a simple overall description of prevalence and incidence of musculoskeletal extremity complaints in children and adolescents was not feasible, due to a large variety in the studies, primarily related to outcome measurements.

Dataset Information

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

Publications

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure