“The condition itself causes no symptoms and may therefore go undetected until organ damage occurs. For this reason, screening and regular follow-up testing is recommended, especially for people with known associated risk factors. Diagnosis is easy by means of a blood test, performed after an overnight fast.
“While treatment always begins with diet and lifestyle modification, medication may be added if patients don’t react adequately to lifestyle changes,” Prof Marais said. “Those who stick to a healthy lifestyle and take their medicine regularly, will generally have a good outcome.”
“The statins are a group of drugs which interfere with the production of cholesterol in the liver, in the process lowering the level of cholesterol in your blood. They are the most commonly used and most potent anti-cholesterol drugs and can reduce your total cholesterol by 20-60%. They work by inhibiting one of the enzymes needed to produce cholesterol,” Prof Marais explained. The effects of statins add to those of a controlled diet.
For patients with severe hypercholesterolaemia, statins alone may not be enough – even at high doses, which increase the risk of side effects. For every doubling of the dose of a statin, there is only a further 6% reduction in cholesterol. In such cases, the addition of a different type of medication is advised.
Ezetimibe is often prescribed alongside a statin because they work in different ways, so the effects add up to lower a patient’s cholesterol further. “Ezetimibe prevents the reabsorption of cholesterol by the small intestine and so the cholesterol recycling process,” said Prof Marais.
“Ezetimibe can lower LDL cholesterol by 15-22% when used by itself, or 15-20% when used in combination with a statin,” the cholesterol charity Heart UK advised. “Some studies have shown that ezetimibe combined with a statin can lower the risk of serious problems like heart attacks and strokes in people with chronic kidney disease and certain heart problems.”
Prof Marais emphasised that prevention of the devastating complications of hypercholesterolaemia is possible through early diagnosis and aggressive treatment. “In the case of inherited disorders such as familial hypercholesterolaemia (FH), complete control and prevention of complications may be more difficult. Because of the silent nature of the condition, even people with no risk factors should be screened. Anyone with known risk factors should see their doctor for testing,” Prof Marais said. “They will probably be more aggressively treated, and at an earlier stage. If you have established vascular disease – such as peripheral vascular disease, coronary heart disease or stroke – you should also be tested, as treatment can significantly delay the progression of the disorder.”