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Familial hypercholesterolemia associated with severe hypoalphalipoproteinemia in a Moroccan family

Source: www.ias.ac.in
Topic: Familial hypercholesterolemia
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Sort Desciption: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated levels of low-density-lipoprotein cholesterol (LDL-C), ...

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Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated levels of low-density-lipoprotein cholesterol (LDL-C), tendon xanthomas and increased risk of premature coronary heart disease (CHD). The FH phenotype results from defects in the LDL receptor gene (LDLR), and also defects in other genes like apolipoprotein B (apoB) (familial defective apo B) or proprotein convertase subtilisin /kexin type 9 (PCSK9) (Soria et al. 1989; Abifadel et al. 2003). High-density-lipoprotein cholesterol (HDL-C) levels are significantly reduced in many FH families. However, the metabolic basis of this hypoalphalipoproteinemia (HALP) has not been clearly understood. It has been reported that FH heterozygotes with HALP are prone to develop more severe premature artery disease (de Sauvage Nolting et al. 2003). Indeed, the latest guidelines for the diagnosis and management of FH consider levels of HDL-C less than 40 mg /dl as one of the major cardiovascular risk factors in the FH population (Civeira 2004). In this report, we describe a Moroccan FH family with associated HALP. After screening of the LDLR gene, we identified a novel frameshift mutation in exon 5 of the LDLR gene (756del7). To elucidate the inheritance of the HALP in this family, we analysed some other genes involved in HDL metabolism, such as apoAI, lecithin:cholesterol acyltransferase (LCAT) and lipoprotein lipase (LPL). We also screened N370S and L444P, the most frequent mutations in the B-glucocerebrosidase gene (GBA) that have been associated with HALP (Pocovi et al. 1998). This study revealed the IVS3-23C > A mutation in LCAT gene, although it did not appear to cosegregate with HALP phenotype in this family. ...

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