polygenic hypercholesterolaemia

Last reviewed 01/2018

This is the most common primary hyperlipidaemia. Polygenic hypercholesterolaemia is, like height, the consequence of several genes together with acquired, largely nutritional factors.

Polygenic hypercholesterolaemia causes a similar pattern of hypercholesterolaemia to that seen in familial hypercholesterolaemia (FH) (but milder than FH with cholesterol levels >6.5 mmol/L. It is characterised by increased levels of LDL-cholesterol (> 4.0 mmol/L). Triglyceride levels are < 2.3 mmol/L.

There is an increased risk of coronary heart disease but xanthomata do not develop.

Note in familial hypercholesterolaemia characteristically total cholesterol is > 7.5mmol/L, LDL-cholesterol is > 5.0 mmol/L and triglyceride is < 2.3 mmol/L.