" /> Familial hypercholesterolaemia - CISMeF





Preferred Label : Familial hypercholesterolaemia;

ICD-11 definition : Familial hypercholesterolaemia is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels caused by mutations in the genes related to LDLR and its function.;

ICD-11 synonym : low density lipoprotein catabolic defect; familial cholesterolemia; low density lipoprotein receptor disorder; Hypercholesterolaemia due to LDL receptor deficiency;

ICD-11 inclusion : Fredrickson type 2A hyperlipoproteinemia; Fredrickson 2A; familial hyperbetalipoproteinaemia;

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Familial hypercholesterolaemia is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels caused by mutations in the genes related to LDLR and its function.

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28/07/2025


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