Familial Hypercholesteramia test advice please?

[isthereaway]

My 19 year old has just had a fasting cholesterol test after level were found to be 'high' in recent hospital visit.
The figures GP reports are:
overall level: 6.5, HDL: 1, LDL: 4.7. ratio 6.5.

I've just been informed that his Father had high cholesterol (total 7.9, HDL: 0.9, LDL: 5.2, Ratio 8.8, triglycerides 3.92) in 2016 & has been on statins since.

I remember a discussion about FH around then (as a friends H had it & her two sons were checked). My kids were 12 & 9.. Imo it should have been checked.

What's done is done but should they both be checked now?

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I'm going to ask for this to be moved to Chat to see if it might be seen quicker.

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I don't know but I think someone should take a closer look.

My DH and his father also have this and my son has never been tested, but will be soon (aged 20).

Sorry I can't be more help.

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Guidelines may vary in different parts of the country but where I work we don't refer for familial hypercholesterolaemia unless total cholesterol is over 10, or 8.5 with family history of early onset heart disease.
Cholesterol of 6.5 with a HDL of 1 is not at all unusual and in a young person we would just advise dietary improvements.

@hazelnutlatte oh okay thank you.He has just had Myocarditis & LVSD (how the cholesterol was discovered). He is out of heart failure now but still poorly.

I’d say yes. I have FH. Was kind of picked up when i was 8 in 1988, through having high cholesterol, after my dads triple bypass.

Luckily, my cholesterol specialist has an interest in FH and span my blood for known FH gene mutations to locate the gene, he then got my sons, sister and nieces checked for the specific gene mutation I have.

my sons are thankfully fine, all the rest of us have it. We are all now under specialists (none with higher than 7 total level). All on statins, bar one niece who’s wait and see as lower.

as explained to me, FH is a problem as it’s not a gradual increase from 40 - it will have been double from birth. The culminative effect is the problem and necessitates treatment.

In that case definitely ask for advice from a specialist who knows his history!

It's not a difficult test. Just tell the GP and they are likely to run it

My dad has FH but his cholesterol was super super high

Because of that, we were all checked (I don't have FH but do still have high cholesterol)

(When I say not difficult, I mean it's just a blood test - shame they didn't know when they checked his cholesterol but hopefully they can do another one now!)

@8008Bee GP won't run test. Ds Cardiac Consultant - we saw today to be signed off- didn't know Ds' Cholesterol level 'not in my notes, never mind' I told him what it was & that his Dads was high before statins (given at 7.6) . Said no point running test atm as won't give statins atm as 'it would complicate things' as Ds is still recovering from Myocarditis 'tests are clear but he seems to be sore'. Will consider it in 6m after a 3rd high cholesterol test. Told Ds it doesn't matter as heart attacks dont happen at his age. Not exactly reassuring.

Did you get your son tested? The lack of knowledge regarding this condition amongst GPs is a major problem. I went for almost two decades being told I couldn’t have it as my LDL wasn’t high enough and didn’t fit the criteria. A cardiac nurse eventually suspected the issue and referred me to an endocrinologist who was very knowledgeable and got me genetically tested. My own very young g children have since been genetically confirmed to have it. Please get a second opinion and a referral to a genetics team and endocrinologist

Those cholesterol levels are not that high really.

I was tested for FH after my routine health-check showed my LDL (the number the GPs like to be low) was 11.5 but I don’t have FH.

I decided to look into things and decided I might have had genetically high LP(a) (this is not FH but it does cause high cholesterol). NHS wasn’t interested in that, so I had to pay for a private blood test to check that out. Turned out my LP(a) was within normal parameters too.

Ultimately it turns out I’m what is nowadays described as a lean-mass-hyper-responder. I’m not particularly overweight and my body has a tendency to absorb more ingested cholesterol than others.

But that’s only part of my picture, as most (around 75%) of our bodies cholesterol is created by our livers (and brain), so even if I eat zero cholesterol containing foods my cholesterol is still elevated compared what the NHS wants - due to a lack of receptors for recycling cholesterol that is made by the liver.

So I’ve been put on statins, and ezetemibe. If I didn’t want the drugs I could reduce my cholesterol a little by taking a Berberine supplement (this is a PCSK9 inhibitor) but that alone wouldn’t be as strong as the drug combination and would not stop my liver making cholesterol.

If you really care about lipid health I recommend getting LDL-p blood tests done privately. This will tell you how much of the different sized LDL particles your son has. The small and oxidised LDL particles are the more dangerous ones, as large LDL particles are actually healthy.

Whilst I have a tendency to have a lot of LDL (GP not happy), it turns out I have practically zero small dangerous particles (private consultant cardiologist very happy). In practice I now like to keep both parties happy so take a reduced dose of meds and do a lot of resistance training.

Most forward thinking cardiologists now agree that triglyceride levels are the biggest problem and best marker of metabolic disorder/disease; not LDL.

The best marker for cardio risk for example is the Triglycerides/HDL ratio: this needs to be less than 2, but the lower the better. Mine is now 1.1 If your son has too many triglycerides, tell him to massively reduce his carb intake and significantly up his protein and fat intake. It’s carbs that increase trigs.

Don’t avoid healthy essential fats such as those in dairy, eggs, fish and avocado.
My NHS consultant cardiologist was happy for me to be on a keto diet when I tried that for a year, but I found it a bit too boring/restrictive so now I focus first on getting enough protein and the rest seems to fall into place.

Ds continues to have rising cholesterol. Latest was ratio of 7.4. Cardiologist (& therefore GP (refused to even discuss with us. I was recently diagnosed Hyperlipidemia . We have been eating wholegrain & clean for last 12m (pretty good before as cook from scratch but improved again). Like Ds I was dx Pericarditis so he has been ref to genetics clinic ('will take 6m'). After pushing, I have just had a FH blood test, told results will take 3m, kids can be tested if my test is positive.

@Anonymouseky
@ThePowerInYourMind
Thank you both for helpful info x

We had it done as my husband’s family have a lot of people with elevated cholesterol. We used Randox Health at a cost of about £500. It was a simple blood test in a nearby location, with online counselling at the time of the results. (Family member who was tested didn’t have FH by the way).