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Hereditary high cholesterol: what is familial hypercholesterolaemia?

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In a small share of people, high cholesterol is hereditary. Familial hypercholesterolaemia, FH for short, is the best-known form: an inborn condition in which your LDL cholesterol is strongly raised from an early age. It is more common than people think, and precisely for that reason often missed.

What strikes me here: FH is one of the few cholesterol stories where "just eat healthier" really is not the whole answer. The tendency sits in your genes, not in your shopping basket. Below you read what FH is, when to suspect it and what a test can clarify. For the broader picture, read our overview on lowering cholesterol for women.

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia is a hereditary condition in which your body clears LDL cholesterol from your blood less well. As a result, your LDL is often strongly raised from childhood. FH is caused by a change in a gene involved in cholesterol uptake.

According to the European specialist society, about one in 250 people has FH, but in most people it goes unrecognised (Nordestgaard et al., 2013). That is a striking gap: a relatively common condition that often stays unnoticed. Recognising it early can therefore make a difference, and that starts with knowing what to look for.

When do you suspect hereditary high cholesterol?

You suspect a hereditary cause if your LDL is strikingly high with no clear lifestyle cause, or if cardiovascular disease appeared young in your family. None of these points proves anything on its own, but together they form a pattern worth discussing. The checklist below lists the signals.

SignalWhy it stands out
Strongly raised LDL cholesterolhigher than lifestyle alone would explain
Cardiovascular disease young in the familyfor example a heart attack before 60 in a parent or sibling
High values already at a young ageraised cholesterol that does not fit your age
Cholesterol deposits (tendons, skin)rare, but a strong pointer

Recognise several points? Then discuss it with your GP. They can judge whether further investigation is sensible. This is explicitly not self-diagnosis: the checklist only helps you prepare the conversation.

How is FH diagnosed?

The first step is usually a lipid profile, in which the LDL in particular stands out. With a strongly raised LDL and a suspicious family history, your GP can look further, sometimes with genetic testing. The latter runs through regular care, not through a standalone blood test.

A blood test shows your LDL, but on its own does not confirm FH. To see your baseline values, at Lunara you can take a lipid profile blood test or check your LDL cholesterol. Take a striking result to your GP. How to read those values is in our cholesterol values table.

Can you grow old with hereditary high cholesterol?

Yes, you certainly can. FH means a higher risk, not a fixed fate. Precisely because the cause is known, people with FH can work on it purposefully with their doctor. Recognising and treating it early makes a difference here.

The tricky thing about FH is that it gives no symptoms for a long time. The high LDL does its quiet work, often from childhood. That is why it is such a shame when it stays unnoticed: the tendency is there, but you notice little of it until a possible event.

What I find important here: an FH diagnosis is no doom message, but information you can act on. It gives you and your family the chance to be on top of it in time. How that goes further, you discuss with your GP or specialist.

What does FH mean for your family?

FH is hereditary, so if you have it, close relatives have roughly a fifty percent chance of carrying the same tendency. That is why, once FH is established, relatives are often looked at too. The Hartstichting calls this family testing an important way to find carriers in time.

For women, one more thing plays in. Around menopause, cholesterol often rises anyway, which can make an underlying hereditary tendency more visible. More on that hormonal side is in cholesterol and heart health after menopause.

Do you suspect a hereditary cause? Then take one concrete step: test a lipid profile, ask whether close family had cardiovascular disease young, and take both to your GP. They can decide whether family or genetic testing fits.

Sources

  1. Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians. Eur Heart J. 2013;34(45):3478-3490. PMID 23956253.
  2. Hartstichting. Hereditary high cholesterol (FH). Available via hartstichting.nl.
  3. Thuisarts.nl (NHG). I have raised cholesterol. Available via thuisarts.nl.

Every blood test result at Lunara includes a professional assessment by a BIG-registered doctor. For treatment decisions, discuss your results with your GP.

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