Familial cholesterolaemia genetic - British Heart Fou...

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Familial cholesterolaemia genetic

Kathyboard1 profile image
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Hello, my fit and healthy husband aged 69 had a heart attack in May, 3 stents fitted. Cholesterol has been high for some time and a blood test last week showed that its genetic. His siblings and children have been advised to get tested, he has older children and together we have a 9 and 10 year old. Should we get the young kids tested as well? I'm trying to find out as the gp said not until they are older, but I would like confirmation. Thank you

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Kathyboard1
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Blearyeyed profile image
Blearyeyed

I have this problem in the family and it's funny I was talking about it in a post a few days ago.We found out about it ( My Mum and I) after we individually had a serious of high LDL cholesterol counts despite trying using a low cholesterol diet.

After that we put on statins because we couldn't control our cholesterol through diet alone and there is a history of heart and liver problems in the family. So it was prescribed as a preventative rather than a cure.

It's hardly ever discussed but apparently a very common genetic issue and 1in 250 people can have it , the majority of which not ever discovering it or having complications because of it.

It can give you an increased risk of cardiovascular issues and strokes but again that varies depending on the family medical history and lifestyle .

If found , many people , are just recommended to have a low cholesterol diet , not to smoke and to keep active . And to get routine checks on their cholesterol to keep an eye on things.

We weren't advised to get younger people tested but just to make them aware that they needed to be careful with their diet ( as your 9and 10 year old probably eat with you it's easier to feed them a better diet because they eat with you anyway) and if they started to get high LDL cholesterol in their routine blood tests as adults to remind the GP of the family history( so they could do the same thing as we did, get tested, try a very low cholesterol diet and then if it didn't improve get a statin).

Not everyone with the FH gene develops the problem and the majority don't end up developing heart issues because they do , it's just worth being more conscious about what you eat and keeping active if it runs in the family , and as the GP says leave testing to adulthood.

Silvertail profile image
Silvertail

If they were my children, I'd get them tested. My son was diagnosed aged 21 when he had a medical exam for work. We haven't got a clue who was responsible because, as far as we know, none of them was tested back then. Most of them had heart disease.

Hare123 profile image
Hare123

hello. My fit and healthy husband also had a heart attack last year, at 53. We recently had an appointment with the lipids clinic who advised that our 17 year old daughter he tested. Up to then everyone else had said wait till she’s in her 20’s, but they said the earlier the better. She has been tested and all good, git to have it done again in a year. Hopefully you have already been referred to lipids clinic, if not I would look into requesting this . Hope your husband is recovering well? X

irishwife93 profile image
irishwife93

Hi Kathyboard1

So sorry to hear you and your family are going through this. I don’t have any personal experience with deciding whether to go for genetic testing but I have worked in the field of genetic testing for the NHS. It sounds like your GP has essentially made the decision for you without informing you of the full picture. Trained genetic counsellors are available on the NHS who can help you decide whether to test or wait.

I found a few articles on this topic that might help inform you:

heartuk.org.uk/fh/being-a-p....

gov.uk/government/publicati...

england.nhs.uk/london/londo...

Wishing you the best of luck and your husband a good recovery!

Kathyboard1 profile image
Kathyboard1 in reply toirishwife93

This is extremely helpful, thank you. We are seeing the lipid nurse tomorrow and will ask advice.

Bigscar profile image
Bigscar

I think the earlier the better.I had the same family history and at a very fit 31 years had to have a triple bypass.So the earlier you find out if they are clear or not you can monitor their diet more carefully if necessary.

I grew up in a time where lard was the prevalent cooking oil so to speak and I loved egg and chips.My diet plus hyper cholesterol anemia gave me blocked arteries. Never had a heart attack but angina when exercising.My fitness played such an important part in my survival to my age now 77. It was 1976 when my problem came to light my doctor ordered an ecg which at rest was normal but the great man who saved my life insisted on one while exercising and graph all over the place so an op was necessary.

I dont mean to be scaremongering but it is a worthwhile to find where you all are under the circumstances.Read up on the forming of atherosclerosis I think that’s the word and how early it can occur in the human body.Maybe if you put your mind at rest and you can act as necessary if action is needed you can start early in their development.

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