Familial Hypercholesterolemia & annoyed with NHS lipid clinic

[Placebo]

Hi

My name is saira and I am 49 Yrs old. I suspected having FH when I saw my mum and all her siblings having heart attacks at young age. At that time, I was myself studying medicine as a student in a local university in Punjab.

But there were not enough help available back in our home country at Primary level. Kept ignoring my problem, tbh. Got married. Relocated to UK for children better future. Started working here at NHS. And life goes on.

One day my husband encouraged me read through BHF website and I realised now I am in a resourceful country and I must take my health seriously. Contacted my GP. They never listened to me properly. And just started me on statin ON MY REQUEST. After few months, I was made aware of specialized lipid clinics in UK. Thanks to my husband again as he got this information from BHF. I contacted my GP again and UPON MY REQUEST they ref me to the lipid clinic. 8 months wait time. Finally we had our appointment and they took some blood test for genetic testing. We impatiently waited for the results. We had a call from our endocrinologist after 7 months. And no information was shared with us about the blood result ? She simply said “I can’t access them”!!!

So first we had to wait for our appointment for 8 months and later for results for additional 7 months and just to listen “I can’t access them”!!!

I am totally frustrated and losing my interest. And now my husband again encouraged to write at BHF community for help.

I need help.

Thanks

[Happyrosie]

you should be able, through the NHS website, to find out who the lipid clinic reports to. For instance, is the the hospital? If so, their PALS organisation.

The NHS is very slow to catch up with technology. but in many cases tests results should be on your medical records. Have you searched there?

[Blearyeyed]

I know the genetics testing can take time.You may be better contacting the lipid clinic you attended to get your results , as they can chase them up more easily if the results aren't " on the system".

Or, if it was a genetics test it might be a good idea to contact your local Genetics Referral Unit as they should have been the ones that dealt with the test.

If they don't have any info, the Genetics Referral Service is the better unit to request that you are retested with, although it will take time.

My genetics testing for other conditions took over a year to complete. But as a mistake has been made in your case they would prioritise your test and you would get your results back in 4-6weeks. So don't lose interest, if anyone has family members with early heart or stroke issues and suspected high cholesterol or FHc it's definitely worth pushing through with the tests.

If you are suspected of FH , basically a genetic form of high cholesterol that is not improved by diet or exercise alone , you usually require more than Statins alone as well.

After three months of statin use you should be retested by the lipid clinic or GP for Total Cholesterol.

If your LDL and triglycerides are still high despite statins that would be enough to confirm and diagnose FHc and they should also start you on Ezetimibe.

People with FHc , like myself, usually require statins and Ezetimibe to reduce the risks and maintain lower cholesterol alongside lifestyle changes. The GP can prescribe this if FHc is likely.

You need to keep to a strict low fat diet with plenty of soluble fibre . Niacin in food or a supplement is also a diet change recommendation. Unlike people without FHc , you need to steer clear of these Extreme Low Carb/ High Fat diet types they aren't safe for those with cholesterol conditions , although limiting your carbohydrates and choosing complex carbs in small portions like wholegrain , potatoes with skin, restricted sugar, seeds, oats, beans and pulses, grains , brown rice or wholewheat pasta is still sensible to do for better heart health.

Eggs are also ok.

You can also choose healthy fats like olive oil, avocado and benecol type products and eat more wholefoods and plant sterols.

And hydration is really important.

Because of the higher health risks with FHc it's best to start lifestyle changes as early as you can because you are at a higher risk of cardiac and blood pressure issues , diabetes, strokes and some nerve related issues than the generally healthy population. So limit alcohol, reduced salt , sugar and artificial sweeteners. If you smoke , stop that, do the recommended exercise each week, reduce stress, keep hydrated and have a vitamin rich diet.

Even if you are on the medication you still need to have your Total Cholesterol blood tests checked every 3-6 months in case the dose of the medication needs changing. Depending on your other health issues or age you may in time be given an anticoagulant or recommendation for a daily low dose aspirin with food.

Familial Hypercholesterolemia is probably the most common genetic disorder that people can have that is never talked about.

Doctors overlook it, and often you won't even know they've added it to your notes after offering you a statin until you read your notes. But , it is something that needs highlighting and discussing a lot more because it a big contributor to people having early cardiac issues or strokes even if those people have lived well and eaten healthily.

In the UK, for example, it is estimated that 1 in 250 people has Familial Hypercholesterolemia, but only 8% of those have had it officially diagnosed or added to their notes.

It's a cholesterol problem that wasn't caused by your habits which proves in many cases a heart problem was not the fault of lifestyle choices, but it can be managed very successfully.

There are positives even if you have FHc, if you take the right healthy steps early, give good lifestyle and diet habits to your family , and get the medication when you need it, your risks of cardiac and stroke problems can return to a virtually identical level to the generally healthy population without FHc and you are less likely to have early heart and circulation problems like your parents or family members.

Take care and I hope you get some answers soon , Bee

[Lowerfield_no_more]

I was told I have a natural total cholesterol of over 9 over 25 years ago and since then I have been taking statins. I am also likely to have some form of genetically linked high cholesterol condition because some of my first cousins are the same. But I have never been to a lipid clinic especially since such things were not available 25 years ago and since then my cholesterol is within limits, especially since at my request I now take ezetimibe in addition to the statin. Anyway if you have a total lipid count of over 7.5 it is likely you have some form of genetically linked hypercholesterolaemia. But whether you have or not really makes no difference to the outcome, (other than any children are tested for cholesterol) since the only outcome is likely to be treatment by medication as well as lifestyle measures such as diet to get the right lipid profile which is something that you can do just with the help of your GP which you should be proactive in getting. So don't get hung up about the lipid clinic however frustrating it appears to be just make sure your lipid profile is managed and under control as above, that's what really matters.

[Munners1975 in reply to Lowerfield_no_more]

LDL over 4.9 would indicate poss FH.

[Gigi70]

Morning Placebo

I have FH - I am with the Harefield lipid clinic which offers the latest medications mostly injectable’s for families inheriting this dangerous genetic disorder. But if you have not developed heart disease or other symptoms you would not be a priority. Are you with the NHS or a private doctor?

You do not mention your cholesterol number? This is the place to start. If you have high LDL and very low HDL thus will indicate a disease process.

Certainly as has been stated regular screening is yet to be developed here in England. As a result I now have advanced heart disease and have a very healthy lifestyle all my life. On fact all the media junk about lifestyle is unhelpful for families like mine!

Let me know ?

Michèle

[lizzieloo2]

My husband had a heart attack due to high cholesterol and blocked arteries. He cannot tolerate statins so was referred to the lipid clinic for injections. His heart attack was in April 2022 but it took until September that year before we actually got the injections sent to us. Since then, we are supposed to have annual follow-ups but it is getting longer and longer between telephone appointments (we have never seen anyone face to face) and even then we have to keep chasing the secretary as the hospital is very slow to issue repeat prescriptions to Sciencus, the company who delivers the injections. My husband also was tested for familial hypercholesterolaemia in January 23. We were told it would take 9 months for the results to come back to the consultant. After constant chasing of the secretary, we finally got a telephone appointment to give us the results in June 2024! The lipid clinics seem to be a joke as obviously you are experiencing poor service as well

[1a2b3]

sounds very frustrating and also worrisome . Do you know if one of the tests done was to identify if you have elevated LP(a)? This test has been around for a few years, but not widely used, but now recommended that everyone get tested for once in their life. I am in Canada, and they have just started testing more widely for this.It is something that you are born with and if you do not have it, you will not develop it. This condition affects the type of cholesterol that you have making it slightly more sticky, and therefore not great. it is inherited . My 93-year-old mother has it as as does my sister, myself, and recently found out two of my three daughters have it as well. . My third has not yet been tested. I would assume if you went to a lipid clinic, they would be testing for this, but I would definitely ask for it.