Updated 07 March 2018

Familial hypercholesterolaemia: treatment

Familial hypercholesterolaemia is an inherited disorder that markedly increases the “bad” LDL cholesterol in the blood and causes premature heart disease.


Basic management consists of lifestyle interventions and medication to prevent the complications of atherosclerosis. Over the past 2 decades effective and safe medication has become available to treat FH with a dramatic decrease in risk for most who suffer this disorder.

In rare instances special treatments such as plasmapheresis may be required in unusual situations, for instance when FH patients don’t respond well to other treatments.

There is hope that this disorder may be corrected by gene treatment in the future. 

1. Lifestyle

We know that lifestyle is important in the management of FH because Japanese FH patients on average live 10 years longer than their European counterparts with the same diagnosis.

The Japanese low-fat diet with its emphasis on marine products could be the reason why the Japanese develop coronary disease at a later stage.

Lifestyle management is advised for pregnant and nursing women and for children from the time solid foods are first introduced. The whole family should follow this eating plan.

Other lifestyle habits to follow:

Keep an eye on kilojoules so that you maintain your ideal body weight
• Exercise regularly
You should not smoke at all and should also avoid passive smoking

2. Medication: statins

There is no doubt that medication can decrease the risk of a heart attack dramatically.

Statins don’t cure FH but in combination with lifestyle interventions, they powerfully reduce the risk of heart disease, the main cause of death in FH. Within a decade of introducing statins in Britain, vascular events in people with FH decreased by 75%.

Medication is required for everyone with FH. The time at which this should be introduced is not clear but the safety of the medication has resulted in its being prescribed in children who come from families associated with very early onset heart disease. 

If your targeted LDL concentration is not achieved by statins alone, you may have to take additional drugs with different mechanisms of action. Your doctor may prescribe ezetimibe, a drug that is convenient to use and significantly lowers LDL cholesterol by lowering cholesterol absorption.

Cholestyramine, a powder that’s not absorbed, is less convenient but also significantly reduces LDL cholesterol. It wastes bile acids so that cholesterol has to be used to replace these losses.

This product is no longer available in South Africa, nor is the more convenient tablet form an equivalent medication. 

The B vitamin niacin lowers LDL and has favourable effects on HDL, triglycerides and Lp(a), but may not be easy to take because it has flushing as a side effect. Flush-free preparations are available without prescription but there is little scientific information about them and they have frequently been disappointing.

A recent development is the combination of a flush inhibitor (laropiprant) with niacin but this did not reach marketing in view of low efficacy in a study that did not involve FH subjects.

Fibrates are other drugs that could be useful if there is an additional problem with high triglycerides or low HDL, but they don’t have a powerful effect on LDL. 

3. Plasmapheresis

In a small proportion of heterozygous FH patients and in almost all cases of homozygous FH, plasmapheresis is required to achieve control. Plasmapheresis is an expensive procedure, requiring a special machine and nursing staff to cleanse the blood of cholesterol over about four hours.

The cholesterol concentration decreases dramatically but rebounds over the next fortnight, so that repeat procedures are required every 14 days.

Plasmapheresis is life-saving but is available to only a few South African patients. Recently drugs have been developed that work more effectively this severe setting but they are not yet available and will likely be costly.

These newer treatments are under investigation at specialised centres in South Africa.


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