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BMJ Case Reports 2012; doi:10.1136/bcr.02.2012.5717
  • Rare disease

Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor

  1. Ahmed Farouqi
  1. Ibn Rochd University Hospital, Casablanca, Morocco
  1. Correspondence to Dr Siham El Aziz, sihamelaziz{at}yahoo.fr

Summary

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.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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