The first aim was to critically evaluate the extent to which familial hypercholesterolaemia ( FH ) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease ( CHD ).
Of the theoretical estimated prevalence of 1/500 for heterozygous familial hypercholesterolaemia, less than 1% are diagnosed in most countries.
A 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 CHD.
Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have familial hypercholesterolaemia.
Experts recommend 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 CHD, tendon xanthomas, or sudden premature cardiac death.
In familial hypercholesterolaemia, low-density lipoprotein cholesterol targets are less than 3.5 mmol/L( less than 135 mg/dL ) for children, less than 2.5 mmol/L( less than 100 mg/dL ) for adults, and less than 1.8 mmol/L( less than 70 mg/dL ) for adults with known CHD or diabetes.
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 CHD. ( Xagena )
Source: European Heart Journal, 2013