Of the theoretical estimated prevalence of 1/500 for heterozygous familial hypercholesterolaemia, less than 1% are diagnosed in most countries.
Direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous familial hypercholesterolaemia.
All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with familial hypercholesterolaemia, and up to 13-fold increased risk of coronary heart disease.
Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have familial hypercholesterolaemia.
European Atherosclerosis Society Consensus Panel recommends that children, adults, and families should be screened for familial hypercholesterolaemia if a person or family member presents with familial hypercholesterolaemia, a plasma cholesterol level in an adult greater than or equal to 8 mmol/L( greater than or equal to 310 mg/dL ) or a child greater than or equal to 6 mmol/L( greater than or equal to 230 mg/dL ), premature coronary heart disease, tendon xanthomas, or sudden premature cardiac death.
In familial hypercholesterolaemia, low-density lipoprotein cholesterol targets are less than 3.5 mmol/L( minor of 135 mg/dL ) for children, 2.5 mmol/L( minor of 100 mg/dL) for adults, and less than 1.8 mmol/L( minor of 70 mg/dL ) for adults with known coronary heart disease or diabetes mellitus.
In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, Ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, Ezetimibe, and bile acid binding resins.
Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with coronary heart disease.
In conclusion, owing to severe underdiagnosis and undertreatment of familial hypercholesterolaemia, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition. ( Xagena )
Nordestgaard BG et al, Eur Heart J 2013; 34: 3478-3490