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

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 cha...

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Bibliographic Details
Published in:BMJ case reports 2012, Vol.2012
Main Authors: El Aziz, Siham, Chadli, Asma, El Ghomari, Hassan, Farouqi, Ahmed
Format: Article
Language:English
Subjects:
Adolescent
Africa
Anticholesteremic Agents - therapeutic use
Atherosclerosis
Auscultation
Azetidines - therapeutic use
Cardiovascular disease
Case reports
Cholesterol
Consanguinity
Coronary vessels
Ezetimibe
Genetic disorders
High density lipoprotein
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use
Hyperlipoproteinemia Type II - drug therapy
Hyperlipoproteinemia Type II - genetics
Intermittent claudication
Lipoproteins
Low density lipoprotein receptors
Male
Morocco
Mutation
Other
Rare Disease
Receptors, LDL - genetics
Ultrasonic imaging
Vein & artery diseases
Young Adult
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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.
ISSN:1757-790X
DOI:10.1136/bcr.02.2012.5717