It is not easy to make diagnose FCHL in children, since a clear expression of lipoprotein abnormality is unlikely and standard criteria have not yet been established. We investigated eight cases of childhood FCHL and their families with respect to familial history, anthropometric parameters and serum lipoprotein levels, to explore the characteristics of childhood FCHL. To diagnose childhood FCHL it is necessary to clarify both the family history and lipid profiles of the parents. In this study, two prominent features were suggested; that serum TG level is affected by both obesity and age, and also in particular, that a significantly elevated level of serum apoB is a predominant feature of FCHL in childhood. It was found that hyperapoB may be revealed antecedently without other lipid abnormalities at an early age. Regardless of other lipoprotein abnormality, it was suggested that hyperapoB might be added to the early diagnostic criteria for FCHL.

Download full-text PDF

Source
http://dx.doi.org/10.5551/jat.9.314DOI Listing

Publication Analysis

Top Keywords

childhood fchl
12
fchl children
8
lipoprotein abnormality
8
fchl
7
familial combined
4
combined hyperlipidemia
4
hyperlipidemia fchl
4
children significance
4
significance early
4
early development
4

Similar Publications

Importance: Type I interferon (IFN)-mediated monogenic autoinflammatory disorders (interferonopathies) are childhood-onset rare multisystemic diseases with limited treatment options. The Janus kinase (JAK) inhibitors are promising potential therapeutic candidates for immune-mediated chronic inflammatory skin diseases.

Objective: To review the use of JAK inhibitors to improve decision-making when treating interferonopathies with cutaneous manifestations.

View Article and Find Full Text PDF

Cardiovascular disease (CVD) remains the leading cause of death and morbidity in the world. The origins of atherosclerosis and subsequent CVD begin in childhood. In order to prevent CVD, children and adolescents at high risk for premature atherosclerosis should be identified and treated as early as possible.

View Article and Find Full Text PDF

Current guidelines strongly recommend the identification of genetic forms of hypercholesterolemia (HC) during childhood.The usefulness of non-cholesterol sterols (NCS) in the diagnosis of genetic HC has not been fully explored. Plasma NCS were measured by gas chromatography/mass spectrometry (GC/MS) in 113 children with hypercholesterolemia affected by: autosomal dominant hypercholesterolemia (ADH), familial combined hyperlipidemia(FCHL), polygenic hypercholesterolemia (PHC), and in 79 controls to evaluate: i) plasma NCS profile in different genetic HC and ii) the usefulness of NCS for the diagnosis of HC beyond current clinical criteria.

View Article and Find Full Text PDF

Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

Atherosclerosis

January 2008

Department of Clinical and Applied Medical Therapy, Unit of Medical Therapy, University of Rome La Sapienza, Italy; Research Center for Clinical Trials (CRISC), University of Rome, La Sapienza. Electronic address:

Article Synopsis
  • * In a study of 157 children with high cholesterol, 17.2% were classified as having probable FH and 31.2% as affected by familial combined hyperlipidemia (FCHL), with a total FH prevalence of 8.9%.
  • * New mutations in the LDLR gene were found, and it was determined that an LDL-C level greater than 3.9 mmol/L is an effective threshold for diagnosing FH in children, with a sensitivity of 79% and specificity of
View Article and Find Full Text PDF

The purpose of this study was to screen for FCHL in children using serum lipid phenotypes. The subjects were 1190 (599 male, 591 female) children who participated in a screening and care program for life style-related diseases in school children. Total cholesterol, high-density lipoprotein cholesterol and triglyceride were determined, and information on the family history of parents was obtained by questionnaire.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!