Family history of FH, should GP test children’s cholesterol now?

[Plankton89]

Hi all,

long story short I have just found out that there is very likely FH / hereditary high cholesterol on my husbands side (eg. Multiple family members dropping dead from heart attacks at a young age, most recently husbands cousins on paternal side dropped dead despite being very fit and clean living. It was a severe heart attack and his arteries were completely furred up). Husband had a wellman check at 40 that discovered elevated cholesterol and due to family history he has been on statins since.

im worried about my kids - husband is going for private FH genetic testing next week. I spoke to a private GP using my own private insurance, I’ve virtual consultation. They advised that even if it comes back negative for the five specific gene mutations they test for, my children are likely to have a genetic pre-disposition to high cholestorol anyway. Perhaps not as serious and urgent as FH but still needing monitoring.

I am going to try and get an appointment with our own local GP to take this further… But it is a bit like pulling teeth even getting an appointment.

I’m immediately thinking about my children’s diet and we’re going to lean towards some more Mediterranean diet going forwards. I’m reviewing all snacks, etc.

There is a lot a lot that I need to do and find out, but my most pressing questions at the moment are

1. Should the GP organise cholesterol tests for the children under the circumstances, even if we haven’t got the genetic test results back and/or in the event that the genetic test comes back negative… Even if it comes back negative, I know that there is the chance of a false a the family history I still want them checking.
2. does anyone know of anywhere private I can get cholesterol tests for my children? If things are slow on the NHS or the GP isn’t familiar with this issue / doesn’t want to do the tests for some reason? FH is hugely under diagnosed and not well understood my GPs , and I’m prepared to take matters into my own hands to avoid any delays
3. Would they need a venous blood test or is it likely to be a finger prick?

If anybody is able to provide constructive and specific advice above points, I would be extremely grateful.

Thanks 🙏

Wait for your DH’s results to come back.

Whatever the results, it’s not a bad idea to get a child’s cholesterol checked at some point in their adolescence.

Don’t panic, is the main thing. You don’t have any facts to hand, firstly, and secondly panicking won’t get you anywhere. Follow the process through step by step. If your DC are at risk, they will get what they need via your GP. This is a slow burn thing, it won’t matter if you have to wait two or three weeks.

Ask the GP to refer your children to your local lipids clinic.

Don’t do this until you’ve looked up the guidelines, it will be a waste of an appointment at this stage.
They would need a parent with a confirmed genetic mutation, a total lipid above 6.7 or calculated LDL above 4 or severely high cholesterol above 9 for example.

They would need a venous blood sample, a dr wouldn’t consider this until your DH has his results.

Thank you. I have just found out - today - that a 2nd degree relative of my husband actually has tested positive for FH.

I’m concerned that the genetic tests are only 60-80% accurate and that related conditions like polygenic hypercholesterolemia would not cause a positive result. This is why I thought I should have the kids cholesterol checked irrespective of my husbands genetic tests. I will speak to the GP and see what they suggest given all of the facts I have just now.

any more info or insights is very much appreciated appreciated

The genetic tests are only that low pick up rate if the family mutation hasnt been found. As it has in your family, your husband can be tested now and they will definitely be able to say whether he has the mutation seen in his cousin.
They wont test the kids until they are teens because they cant be treated now and testing would remove their choice not to be tested. They might not want to know.

The NICE guidelines are that they should begin treatment by age 10

sadly whilst we know that FH was confirmed we do not know which variant it was. However… I suppose the fact that it was confirmed means it is one of the main five mutations. Which is what my husband has been tested for next week. Thank you for your input.

Your second paragraph is shockingly wrong.

Yep. That has alresdy been pointed out. Apologies i didnt realise there was treatment from that early.