Genetic testing

[Lauraw6]

Hi there. I am a 43 year old female, recently diagnosed with Familial Hypercholesterolaemia. My latest blood tests showed that my levels had dropped from 9.6 to 9.4. When I was first diagnosed 2 years ago it was 9.9 so it is proving to be quite hard to control. I maintain a low fat diet and Do what exercise I can, but due to injury of my right leg and arm this is somewhat limited. Anyway, I am going to see one of the British Heart Foundation nurses in a few weeks for genetic testing so that they can confirm the diagnosis of FH (my older brother has already had this done and FH was confirmed). I was just curious and wanted to ask if anyone had undergone genetic testing and if so what might I expect to happen? Thanks in advance.

[MichaelJH Heart Star]

Hello and welcome to the forum!

Sirry I am unfamiar with genetic testing. I am convinced I have a rogue gene. My father, his brother and their father all died prematurely from heart attacks. I needed a quadruple bypass after developing severe angina. My cholesterol was 4.2 before medication

I have read your intro (thank you for putting more than "I am Delta") and find your ongoing cholesterol level concerning. Have they suggested additional medication like Ezetimibe, or Niacin?

Good luck.

[Lauraw6 in reply to MichaelJH]

Thanks for your reply! I should have said that I have been taking 80mg Atorvastatin since February 2018. In May this year I was switched to 20mg Rosuvastatin and 20mg Ezetimibe. I am having a cholesterol level check done in a few weeks time so it will be interesting to see what effect this regimen change has had.

[MichaelJH Heart Star in reply to Lauraw6]

Do let us know how it pans out...

[MMG1968]

My husbands family all have this and it has been confirmed through generic testing. However apart from advising all the family members nothing is done other than advising them to keep an eye on their cholesterol levels and take statins

My husbands cholesterol was 12 and is now 4.6 so it is a case if getting the right statin.

[VickyHK72]

Hi there and welcome! I have ‘possible FH’ - my older sister had genetic testing done and it came back negative but her doctor told her they still feel she has FH but they can only test for the genes they are aware of causing FH and they aren’t yet aware of all of them. As a result, the doctor at my lipid clinic has said there’s no point testing me. I believe it’s just a blood test but then the analysis takes several months so you don’t get a result for 2 or 3 months. Are you on statins? My cholesterol (total) was 6.4 and is now 3.3 now that I take statins. I have a strong family history of heart attacks and both my sisters and nieces have elevated cholesterol levels so it is suspected that we all have FH.

Good luck x

[Cacabeto in reply to VickyHK72]

My wife and children have FH and they have been prescribed REPATHA injections every two weeks, the result have been very good, now the level is 4.3 down from 9.

[MichaelJH Heart Star]

I forgot to mention in my original reply that a number of people with FH have had success with reducing cholesterol with Repatha injections. These have only started being used in the last year or so.

[Chappychap]

I have had saliva based genetic tests in the context of my heart condition (atherosclerosis not FH), but this was done privately as the NHS will only authorise genetic testing to confirm a diagnosis of suspected Familial Hypercholesterolaemia. Gene testing isn't quick, it took about six weeks before I got the results.

There are over 50 genes that have a bearing on heart health, with more being discovered all the time. However, for FH I believe they will look at three genes in particular. Most importantly is the gene regulating the LDL Receptors, this is the overwhelming explanation for most people with FH, because a certain version of this gene means cholesterol is not flushed from the blood stream and therefore builds up and up. However, I understand that in a tiny minority of cases FH can be traced back to two other genes, and so these will also be tested for.

I don't know if NHS gene testing for FH is restricted to only these three genes, or if it looks more widely? If it does look out for these three other heart related genes.

First is 9P21, this is sometimes called "the heart attack gene", if you've inherited this gene from both your parents then it doubles your risk of heart disease, heart attacks, and certain types of aneurysms. People in this genetic situation need to follow a very specific lifestyle pattern to mitigate these risks.

Second is the Apo E gene. You basically need to know which of three categories of this gene you have. About 20% of the population will have one particular version of the Apo E gene known as Apo E/4. This version significantly increases the risk of heart disease, strokes and alzheimers. The solution for people with the Apo E/4 variant is primarily diet, in particular ultra low fat and very low alcohol. Most of the healthy eating debate for heart disease actually pivots around this one particular gene, but it hardly ever gets mentioned!

There is a lower cost private gene testing option for Apo E/4, the commercial company "23 & Me", that do family tree gene tests, also offer a general health DNA test package that includes an Apo E/4 test. They run occasional deep price cut promotions which can make this a bit more affordable.

Thirdly is the KIF6 gene. Knowing your status with respect to this gene allows your doctor to tailor your type of statin more accurately. I'd have thought this test would form part of the FH gene testing suite as it's so lipid related, but as far as I know, and for reasons I don't understand, it doesn't.

The chief scientific advisor to the British Heart Foundation (who sponsor this forum) argues that genetic testing will be the next great leap forward in the battle against heart disease. Firstly as a screening tool to identify those most at risk, and then as a tool to tailor the medication, diet and life style changes that will be most effective for each individual. Unfortunately cost reasons means the NHS has yet to introduce this, although it's inevitable it will eventually come as DNA testing costs continue to fall.

Do please let us know how you get on and what specific DNA tests you have done.

Good luck!

[WIgranny]

I've recently been diagnosed with high cholesterol very probably an inherited type and having genetic testing done in next couple of months

[Lauraw6]

So today I went for the genetic testing which was a very straightforward process . The testing will be done with a blood sample that was taken, but my biggest concerns were with the results of a cholesterol test which was done whilst I was there. Unbelievably my cholesterol has gone up - from 9.4 to 10!!! What on earth is going on? I have been taking Rosuvastatin and Ezetimibe now for about 3.5 months so really thought I was going to see a big difference. It’s really starting to play on my mind now, endlessly hearing about the damage high cholesterol levels can inflict. Anyway, there is a strong possibility that I may need to have the injection that is done every 2 weeks (can’t remember the name!) The results of the gene test will be a few weeks yet.