Familial hypercholesterolaemia (FH) is quite common genetic disorder resulting in high low-density lipoprotein (LDL) cholesterol levels, but homozygous FH is rare. The authors describe a Moroccan family where a 24-year-old man and his 13-year-old brother, born from a consanguineous union, showed characteristics of FH with large tendon, tuberous and planar xanthomas. They had already five deaths in the sibship before the age of 15 years. Blood analysis found high LDL cholesterol levels. Arterial assessment showed diffuse atherosis. Genetic study found that patients are homozygous for the mutation of G266C LDL receptor. Treatment with high doses of statins and ezetimibe was introduced reducing cholesterol up to 70%. Large xanthomas were removed surgically. The G266C mutation has been previously identified in Morocco. Early identification and adequate treatment of individuals with hypercholesterolaemia and their relatives are essential for prevention of early death in these populations.
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| http://dx.doi.org/10.1136/bcr.02.2012.5717 | DOI Listing |
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Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.
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Ibn Rochd University Hospital, Casablanca, Morocco.
Familial hypercholesterolaemia (FH) is quite common genetic disorder resulting in high low-density lipoprotein (LDL) cholesterol levels, but homozygous FH is rare. The authors describe a Moroccan family where a 24-year-old man and his 13-year-old brother, born from a consanguineous union, showed characteristics of FH with large tendon, tuberous and planar xanthomas. They had already five deaths in the sibship before the age of 15 years.
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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
Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet
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Laboratoire de Biochimie, Faculté des Sciences Aïn Chock, Km 8, Route d'El Jadida, BP 5366, Maarif, Casablanca, Morocco.
Familial hypercholesterolemia (FH) is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor (LDLR) gene, although it can also be due to alterations in the gene encoding apolipoprotein B (familial defective apoB or FDB) or in other unidentified genes. In Morocco, the molecular basis of FH is unknown. To obtain information on this issue, 27 patients with FH from eight unrelated families were analyzed by screening the LDLR (PCR-SSCP and Southern blot) and apoB genes (PCR and restriction enzyme digestion analysis).
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