STEMI, feeling low and anyone tested for familial hypercholestrolemia.

[dharkan]

Hi All, on 25th Oct, I had a STEMI on LAD, luckily managed to reach the hospital and emergency angioplasty was carried out. I am now recovering but has surely left a long term impact both physically and mentally. I am 47 and now with Low EF and generally feeling low. I have been reading about genetic test for familial hypercholestromia and was wondering if anyone has any experience with the genetic testing, I have 2 young children and would like them to be tested so they can take precautions.

[Nettekin]

Hi dharkan. Sorry to hear of your recent heart event. It is still quite early days for you, so give yourself a break. Mental recovery can often take longer than the mechanical fixes put in place by the experts.As to your question about familial hypercholesterolemia, I was unaware there is a genetic test. My lipid consultant asked about this during recent investigations and as I was adopted I had no parental history. He did say that if I had my sons tested (a normal fasting blood test) and their levels were high it could indicate hypercholesterolemia for my situation.

I would be very interested to know more about the genetic testing you mentioned.

With best wishes for your continued recovery x

[Hidden]

Hi there. I have familial hypercholestromia after suffering a heart attack in August 2020. I was asked if I would mind having the genetic test and it was just a simple blood test. It was sent away from the hospital I was being treated in to some genetic team here in Scotland. I was then asked to convince my sons to get tested so they could get preventative treatment. So that’s all there is to it. A blood test. Im sorry I don’t understand all your abbreviations but yes it does impact on your mental and physical health. With Covid I found after hospital discharge there was no support at all. I’ve just had to muddle through and give myself a good talking to when I slip down into fear and depression. Still building up my fitness level by doing a wee bit more walking on the days I feel really good. Getting out in rain or shine does make a huge difference … works for me. But do reach out if there is help and guidance on offer where you are. You just need to take extra care of yourself now.

[Cacabeto]

The BHF has on its website detailed explanation regarding FH and can give you information regarding genetic testing for you and your family. Genetic testing for FH has been around for several years. My wife, her family and one of our daughters have FH and they were tested several years ago, for the sake of your family have the test done, is not intrusive just a blood test.

[BMW22]

Hi, I had it via the lipid clinic. Its a blood sample, takes 3months for results. I have got Combined FH and hyperlipdaemia . The Drs letter to my GP gave all the details and suggested that as I didn't have children my first cousins on that side of the family got tested if they had high cholesterol. One cousin had it and had a partially blocked artery that she wasn't aware of so it was very helpful to know and possibly life saving. I should of been on statins at a young age due to this condition but unfortunately no one listened despite high cholesterol and I ended up with a x3 by-pass last year ! (I am fit slim, healthy, non drinker, smoker) My brother died at 51 - again undiagnosed with blocked arteries - if you're positive for it, yr children need testing. Good luck I wish you a happy healthy future.

[dharkan in reply to BMW22]

Thank you so much, do you have to get a referral from the GP to go to a LIPID clinic?

[BMW22 in reply to dharkan]

Normally yes, however my surgery over the years wouldn't listen to me so sadly it was only when I was in hospital on the cardiac ward with chest pains that a Cardiac Dr said he had a colleague that was interested in geneology and worked in the lipid clinic that I got seen. I am still under the lipid clinic Dr, who is my hero, sadly statins and I dont get on well so its an ongoing issue with regular blood tests and changes to meds but he will not give up until I am sorted (its been 14 months post op !). I had read somewhere that babies are getting a heel prick blood test at birth to pick up this faulty liver gene, not sure if it's true or just a study but it would be wonderful, it would prevent so many deaths .

[Chappychap]

The chief scientific advisor to the BHF has argued that wide spread genetic testing at a relatively young age (18 is frequently mentioned) would be a huge step forward in the fight against heart disease. Genetic test costs are falling all the time, but unfortunately they're still too high to be offered by the NHS. Cardiomyopathy and some heart rhythm problems can be inherited, and the majority of obstructive heart disease are influenced although probably not determined by genetic issues.

I believe that currently the only time a UK patient is offered a DNA test is if their cardiologist strongly suspects familial hypercholesterolemia, and the cardiologist might come to that conclusion if the patient's lipid levels remained exceptionally high even following a sustained course of 80mg statin treatment. What makes FH special is that most FH conditions require medication more than life style changes. Fortunately there's been a recent breakthrough with an injectable FH medication which offers transformational potential benefits.

At a cost of about £500 you can be tested privately for a range of genes that influence heart health. The majority of these genes can be mitigated with life style changes, for example about 18% of the population carry the APOE3 gene, this gene elevates the risk of heart disease, stroke and alzheimer's, but people with the gene can bring their risk levels down to that of the general population with an ultra low fat and virtually zero alcohol diet. I mention APOE3 gene because it is the one gene where there's a slightly cheaper test option, as it's covered under the medical test package offered by "23 And Me".

Hope that helps, good luck!

[Trog1]

Hello, I was saddened to hear of your experience and really feel for you as I myself had an Nstemi heart attack a couple of years ago age 58 and upon investigation it was discovered that I had FH which despite a smoke, alcohol free and pretty healthy lifestyle had , over time, caused blocking of my arteries and I had to have emergency triple bypass surgery. Due to finding the FH we realised my late mum, older brother and grandmother (who all also suffered from diabetes) all unknowingly had it so our kids had blood tests to see if they had it too. Luckily my adult kids are fine but one of my brother’s has been diagnosed with FH and her young children will be checked out too. Despite the shock of discovering the condition we feel so lucky to have found out about it as, in addition to my bypass surgery, we now get regular cholesterol checks and take the recommended remedial medication. I’d recommend that anyone in a similar position get blood tests for their families as early detection means appropriate treatment can be made available.