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Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia (HoFH) and Compound Heterozygous FH are severe forms of Familial Hypercholesterolemia which result from inheriting a faulty or altered gene from both parents.
On this page we will refer to both of these forms of Familial Hypercholesterolemia (FH) as HoFH. We explain more about how this condition is inherited elsewhere.
People with HoFH have blood cholesterol levels that are exceptionally high, usually between 10 and 20 mmol/L and possibly even higher. At these levels, the cholesterol accumulates in the arteries leading to heart disease much, much faster than in the normal population and even earlier than in patients with the common form of FH (Heterozygous FH or HeFH).
Because HoFH is a more severe and aggressive form of FH, it is important that children are diagnosed and treated early. Without early treatment, children and young adults are likely to develop early heart disease.
People with HoFH do not always respond to statins and so need other therapies. Those that do respond to statins usually still need some additional therapy in order to bring their cholesterol level down sufficiently.
Treatment of HoFH
When treating HoFH doctors aim to reduce blood cholesterol to a level where the accumulation of cholesterol in the arteries is slowed down, stopped and hopefully reversed. Recently, the European Atherosclerosis Society (EAS) published targets for the levels of LDL-cholesterol to aim for in HoFH of less than 3.5mmol/L in children, less than 2.5mmol/L in adults and less than 1.8mmol/L in adult patients with existing heart disease.
Until recently there were few treatment options for people with HoFH. However recently there has been significant research in this area with some exciting developments.
Existing treatments, other than statins, that help lower cholesterol
Resins, fibrates and ezetimibe all lower cholesterol and are fully registered in the UK and can offer some cholesterol reduction for people with HoFH, usually in combination with other treatments. Maintaining a healthy diet and lifestyle are also very important.
This is a treatment where the blood is “cleaned” to remove cholesterol. It is similar to having dialysis, a treatment for kidney disease. Your blood is passed through a special machine that filters the cholesterol out. The treatment has to be done regularly; usually as a day patient, in one of the specialist treatment centres. Most people have the treatment twice a month.
Almost everyone who has HoFH will require LDL apheresis. Although it is very effective, you may have to travel a long way to receive treatment because there are only a few specialist centres in England, one in Wales and none in Scotland or Northern Ireland. You can find out more about LDL apheresis here..
New emerging treatments
A number of new drugs are currently being developed, tested and licensed for people with HoFH.
Lomitapide is made in capsule form to be taken by mouth and is licensed for use in adults with HoFH. Provided the treatment plan is followed carefully, it has been shown to lower cholesterol by 50% and can help people with HoFH achieve the EAS cholesterol targets. It is sold under the brand name Lojuxta® and although it is licensed for use in the UK, because of the high cost of the drug, it is not currently routinely available. It is hoped that funding will be made available in due course, however until then individual applications for funding from a health care professional are required.
People taking Lojuxta need to follow a very low fat diet, usually less than 40-50g of fat per day for women or 50-60g of fat per day for men. Most people consume around 70-90g of fat per day. The manufacturers of Lojuxta provide dietary support to help achieve this. Those taking Lojuxta also need to have their liver function checked regularly and avoid certain drugs that may interact. Take a look at our low fat eating plan.
This is a new drug, currently in phase 3 trials that has the potential to lower LDL cholesterol by more than 25% in people with HoFH. It is given weekly by injection. This is licenced in the United States but unfortunately it was not licenced for Europe.
These drugs (such as Alirocumab and Evolocumab) are currently in phase 3 trials but doctors are excited about the potential they may offer people with FH. They work by preventing the breakdown of LDL receptors, so helping to improve the removal of cholesterol from the blood. They have to be given by injection, but only once every 2 to 4 weeks. Research shows they have the potential to lower cholesterol by around 30% in people with HoFH.
Two Cholesterol Ester Transfer Inhibitors are currently still in research trials. They have been shown to lower LDL cholesterol and increase HDL cholesterol significantly. Thye also may have a role in helping to treat people with HoFH.