If you have HoFH, you will see a specialist in a lipid clinic for treatment. They will work with you to find the right treatment or combination of treatments for you or your child.
LDL-apheresis is the first line treatment for HoFH in adults and children. It is safe and effective. All other treatments are used in addition to it.
LDL-apheresis is where your blood is passed through a machine via a tube to physically remove the LDL cholesterol (sometimes called bad cholesterol) from your blood. It works no matter what type of HoFH you have, and will reduce cholesterol levels by up to 70%.
Children with HoFH will start with medication first, then begin LDL-apheresis as early as possible. Experts recommend before the age of seven.
PCSK9 inhibitors are a new treatment given by injection. A PCSK9 Inhibitor called evolocumab (Repatha) has been licenced for use with HoFH and can be offered to children and adults from the age of 12.
How well the injections work depends on how many working LDL receptors you have, and can lower cholesterol anywhere between 7% and 56%.
At HEART UK we recommend that you should be offered a trial of this treatment if you are having LDL-apheresis and a standard drug treatment but your cholesterol is still above the target level set by your specialist, and you have working LDL receptors.
It may be possible to have LDL-apheresis less often if you’re having evolocumab (Repatha).
Resins (also known as bile acid sequestrants) may be useful in pregnancy. These come as tablets or a powder that you add to liquids. They're also known as bile acid sequestrants because they bind to bile in the gut so that the bile can’t be absorbed into the blood and re-used. This means that your liver takes cholesterol out of your blood to make more bile. Resins depend on you having working LDL receptors.
Lomitapide is a treatment for HoFH which works in a different way to other cholesterol-lowering medicines, and doesn’t rely on you having working LDL receptors. The brand name for lomitapide is Lojuxta®. It comes as a capsule that you take by mouth. You will need to eat a low fat diet too.
How does it work?
Lomitapide works by blocking a protein that is needed to transport fats from the gut into the blood and around the body. Lomitapide, combined with a low fat diet, has been shown to significantly lower cholesterol, by around half on average.
It may be possible to have LDL-apheresis less often if you’re having lomitapide (with or without evolocumab).
Who can have it?
Lomitapide should be considered for adults with HoFH who haven’t reached their cholesterol targets with LDL-apheresis and standard drug treatment, and have had a trial of evolocumab.
It is licensed for use in adults with HoFH, and is available on the NHS in England.
What are the side effects?
The main side effects are problems with digestion, such as diarrhoea and feeling sick. This is because lomitapide stops fat being absorbed from the gut. Eating a low-fat diet has been shown to help. You will also need to avoid certain drugs that may interact with lomitapide.
Avoid grapefruit and bitter (Seville) orange
Lomitapide can interact with grapefruit and grapefruit juice so you need to avoid these.
Lomitapide can also interact with bitter (Seville) oranges, for example in marmalade. If you do choose to eat some, it should be only a very small amount, and 12 hours apart from your medicine.
If you take lomitapide, you’ll need to eat a low fat diet with less than 20% of your energy coming from fat. This is to prevent side effects like diarrhoea and feeling sick. Most people start a low fat diet a couple of weeks before starting lomitapide to give themselves time to get used to the diet before starting the medicine.
Most people start a low fat diet a couple of weeks before starting lomitapide to give you time to get used to the medicine.
You will also need to avoid alcohol and take dietary supplements, in particular, vitamin E and essential fatty acids.
Getting support with your low fat diet
You will be offered a referral to a dietitian to help you plan a varied low fat diet that works for you.
A healthy lifestyle won’t be enough on its own if you have HoFH, but will help keep your cholesterol down along with other treatments. Plus it's good for your overall health and wellbeing.
Remember, if you're taking lomitapide you'll need to follow a low fat diet rather than the usual healthy eating advice.
Hear about how Cindy lives with HoFH and its treatments.
She talks about what it's like to live with an invisible illness, how she has approached life decisions, and how, to her, it's all about perspective.
