Inherited high cholesterol – what you need to know

By June Shannon Heart News   |   2nd Oct 2019

If you have inherited high cholesterol, also known as familial hypercholesterolaemia, it is important that it is detected and treated as early as possible.

Familial hypercholesterolaemia (FH); is an inherited disease which causes someone to have very high cholesterol, this means they are much more likely to develop heart disease or stroke approximately 20 years earlier than those without the condition.

According to Dr Ana Rakovac, Consultant Chemical Pathologist at Tallaght University Hospital in Dublin and leading expert in FH, in Ireland, much like in other countries, FH is not being diagnosed, recognised or treated appropriately or early enough.

Dr Rakovac was speaking to the Irish Heart Foundation ahead of a special Masterclass on FH which took place at the Royal College of Physicians of Ireland (RCPI) in Dublin last week.

She said it was estimated that one in every 200 to 250 people have FH and if you base that on the 2016 Census, there are approximately 20,000 people in Ireland with the disease.

Cholesterol is a type of fat found in your blood. You need a certain amount of cholesterol for all your body cells and to produce important hormones. However, if there is too much cholesterol in your blood, it sticks to your artery walls to form atheroma or plaque.

It is estimated that one in every 200 to 250 people have FH and if you base that on the 2016 Census, there are approximately 20,000 people in Ireland with the disease.

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There are two main types of cholesterol – HDL cholesterol (high density lipoprotein) and LDL cholesterol (low density lipoprotein). HDL cholesterol is called good cholesterol, because it mops up cholesterol left behind in your arteries and carries it to your liver where it is broken down and passed out of your body

LDL cholesterol travels from your liver through your arteries to other parts of your body. LDL is called bad cholesterol because it sticks to the walls in your arteries – making them narrow. This reduces the blood supply to your heart or brain. High levels of LDL cholesterol increase your risk of heart disease and stroke.

Here comes the science bit: FH is an inherited or genetic condition meaning that you are born with it and if your mother or father has FH, then you have a 50 per cent chance of having it too, as do any of your siblings.

The cause of FH has been identified as a change or mutation of the genes that affects the body’s ability to clear bad cholesterol (LDL cholesterol) from the blood.

Since 2015 special blood tests have been available at St James’s Hospital in Dublin that can tell if you have FH or not in most cases.

“Hypercholesterolaemia is a fancy word for saying that you have too much cholesterol… If you have too much cholesterol and particularly, if you have too much of the bad cholesterol – LDL cholesterol, you are more prone to heart disease, heart attacks and strokes. If you have high cholesterol all your life the way it is with FH, your arteries are basically 20 years older than you are and you get heart disease and other vascular diseases about 20 years earlier than your peers,” Dr Rakovac explained.

“If we start diagnosing all these people and, more importantly, treating them to target early and at a young age, then we have a chance of avoiding heart disease and strokes in the years to come,”

Dr Ana Rakovac, Consultant Pathologist , Tallaght University Hospital

Dr Rakovac is on a mission to inform doctors and members of the public about the dangers of FH and the importance of early detection and treatment.

She said that if doctors come across patients with very high levels of LDL cholesterol or who have relatives who have suffered from sudden death or premature heart disease, stroke or vascular disease (less than 55 years of age in men and under 60 in women) they should think about FH.

“If we start diagnosing all these people and, more importantly, treating them to target early and at a young age, then we have a chance of avoiding heart disease and strokes in the years to come,” she said.

For patients, Dr Rakovac said the take home message was, “if your LDL cholesterol is very high ; above 5 and above 6.5 certainly, and your triglycerides are normal, you could have FH so talk to your doctor and she or he will be able to advise whether you need additional testing or not.”

Dr Rakovac said that the treatment for FH included medication and lifestyle advice. However, she said that lifestyle changes alone would not be appropriate treatment for FH as it was a genetic condition and it needed medication.

“Everyone with FH has to be treated from the word go. While they need to be given lifestyle advice, lifestyle alone is not an appropriate treatment; they have to start statins. There is no way that can run your way out of FH, or lose weight out of FH, you can live the life the best you can, but you will still have it,” Dr Rakovac explained.

For more information on cholesterol and FH please see here

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cholesterol Familial Hypercholesterolaemia FH genetics heart disease high cholesterol hypercholesterolaemia inherited stroke

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