5C80.00/E78.0 Primary hypercholesterolaemia



Primary hypercholesterolaemia is a genetic disorder caused by mutations in the LDLR gene that affects the receptors responsible for the removal of LDL cholesterol from the bloodstream. The mutations lead to an increased level of LDL cholesterol in the bloodstream, which is a risk factor for coronary artery disease and other cardiovascular diseases.


Primary hypercholesterolaemia is usually diagnosed through a blood test that measures the level of cholesterol in the blood. The doctor may also order a genetic test to confirm the diagnosis.

Differential diagnosis

Primary hypercholesterolaemia can be confused with other conditions such as secondary hypercholesterolaemia, which is caused by lifestyle factors such as poor diet and lack of exercise, or familial hypercholesterolaemia, which is caused by a mutation in the LDLR gene.


Treatment for primary hypercholesterolaemia includes lifestyle modifications such as a healthy diet low in saturated fat, regular exercise, and weight loss if necessary. Medications such as statins, fibrates, and bile acid sequestrants may also be prescribed.


Primary hypercholesterolaemia has no cure, but if it is diagnosed and treated early, the prognosis is generally good. The risk of developing coronary artery disease and other cardiovascular diseases can be reduced by controlling cholesterol levels with lifestyle modifications and medication.

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