The clinical and laboratory investigation of dysbetalipoproteinemia.
Familial dysbetalipoproteinemia (type III hyperlipoproteinemia) is a potentially underdiagnosed inherited dyslipidemia associated with greatly increased risk of coronary and peripheral vascular disease. The mixed hyperlipidemia observed in this disorder usually responds well to appropriate medical t...
| Publicado en: | Critical Reviews in Clinical Laboratory Sciences Vol. 57; no. 7; pp. 458 - 470 |
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| Autores principales: | , , |
| Formato: | algorithm pictorial review tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
Nov2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=146514382&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 146514382 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10408363 1AV jtl: Critical Reviews in Clinical Laboratory Sciences issn: 10408363 maglogo: Y pubinfo: dt: Nov2020 vid: 57 iid: 7 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 146514382 145578915 146514382 146514382 10.1080/10408363.2020.1745142 146514382 ppf: 458 ppct: 12 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: The clinical and laboratory investigation of dysbetalipoproteinemia. aug: au: Boot, Christopher S. Luvai, Ahai Neely, Robert D. G. affil: Department of Blood Sciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK sug: subj: Hyperlipoproteinemia Familial and Genetic Hyperlipoproteinemia Diagnosis Diagnosis, Laboratory Methods Apolipoproteins Blood Sensitivity and Specificity Genetic Screening Hyperlipoproteinemia Symptoms Hyperlipidemia Triglycerides Blood Lipoproteins, LDL Cholesterol Blood ab: Familial dysbetalipoproteinemia (type III hyperlipoproteinemia) is a potentially underdiagnosed inherited dyslipidemia associated with greatly increased risk of coronary and peripheral vascular disease. The mixed hyperlipidemia observed in this disorder usually responds well to appropriate medical therapy and lifestyle modification. Although there are characteristic clinical features such as palmar and tuberous xanthomata, associated with dysbetalipoproteinemia, they are not always present, and their absence cannot be used to exclude the disorder. The routine lipid profile cannot distinguish dysbetalipoproteinemia from other causes of mixed hyperlipidemia and so additional investigations are required for confident diagnosis or exclusion. A range of investigations that have been proposed as potential diagnostic tests are discussed in this review, but the definitive biochemical test for dysbetalipoproteinemia is widely considered to be beta quantification. Beta quantification can determine the presence of "β-VLDL" in the supernatant following ultracentrifugation and whether the VLDL cholesterol to triglyceride ratio is elevated. Both features are considered hallmarks of the disease. However, beta quantification and other specialist tests are not widely available and are not high-throughput tests that can practically be applied to all patients with mixed hyperlipidemia. Using apolipoprotein B (as a ratio either to total or non-HDL cholesterol or as part of a multi-step algorithm) as an initial test to select patients for further investigation is a promising approach. Several studies have demonstrated a high degree of diagnostic sensitivity and specificity using these approaches and apolipoprotein B is a relatively low-cost test that is widely available on high-throughput platforms. Genetic testing is also important in the diagnosis, but it should be noted that most individuals with an E2/2 genotype do not suffer from remnant hyperlipidemia and around 10% of familial dysbetalipoproteinemia cases are caused by rarer, autosomal dominant mutations in APOE that will only be detected if the gene is fully sequenced. Wider implementation of diagnostic pathways utilizing apo B could lead to more rational use of specialist investigations and more consistent detection of patients with dysbetalipoproteinemia. Without the application of a consistent evidence-based approach to identifying dysbetalipoproteinemia, many cases are likely to remain undiagnosed. pubtype: Academic Journal doctype: algorithm pictorial review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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