Familial Hypercholesterolemia

[Happypainter]

Hi, I have recently received a severe cardiac calcium score and I am diagnosed with heart disease. I have familial hypercholesterolemia and have observed first hand how this reduces life expectancy in my family. I am now 60, my father was 50. I was wondering if anyone knows of a specialist or expert in the field of FH as I want to have the best advice and chance possible. I also worry about my daughter who has FH. Thank you. X

[Tiggs876]

Hello, I’ve been told I have FH. I have 2 first degree relatives who have had heart attacks. Mum was killed by a sudden heart attack @ 48 & my brother had a severe heart attack @ 57 but survived (thanks to his wife doing CPR) and was stented. My cholesterol has always been high (7/8) & I didn’t take statins but I’d had a clear angiogram @ age 48. 20 years later my LAD is still only showing minimal stenosis.

3 years ago I was referred to Hammersmith Hospital Lipid Clinic because of the new (then) NICE criteria for FH and my high cholesterol numbers. It’s run by a lady consultant and she is excellent. My treatment has been v good. Found out I’m allergic to statins, so I now take Bempedoic Acid (Nilemdo) which has reduced my cholesterol to near normal alongside increased activity & the usual diet changes. I’ve been told my numbers need to be below normal due to my family history, so we’re working on it. I have 6 monthly reviews done over the phone if my numbers are going in the right direction.

I had a genetic test for FH but it came back negative. I was told that at this point in time they do not know all the genetic markers for FH, but my family history & cholesterol are enough for an FH diagnosis on current criteria.

Hope this helps, there are a lot of new treatments apart from statins & ezetimibe. Bempedoic acid is one of them if you can’t take statins. There are also injections to reduce cholesterol for severe cases who have had heart attacks. I’ve also heard that there is a clinical trial on the cards for a gene editing treatment which would involve a one off infusion to reduce cholesterol.

I too worry about my child (he’s grown up but you always worry) & the risk of FH.

All the best.

[JaneBrown55 in reply to Tiggs876]

I was diagnosed and given bemoedoic acid but it upset my liver as do all the statins. I have had a quadruple bypass and I’m in heart failure but now have inclisan injections 6 monthly to reduce my cholesterol

[Happypainter in reply to JaneBrown55]

Hi Jane, thank you for your reply, I am learning that there are more treatments available than I first thought. Thank you for taking the time. I’m very sorry that you have obviously been through an awful lot with your health. I wish you all the best going forwards. X

[Happypainter in reply to Tiggs876]

Thank you so much for taking the time to reply. Your information is incredibly helpful. I live in the Midlands but will see if I can get referred to Hammersmith. My story is very like your own but the Cardiologist said along with the Statins and Ezetimibe they would now be symptom led and respond to any new symptoms rather than regular follow up. My fear is that the symptom may be a final heart attack! I would much prefer better monitoring. I am on a waiting list for a Lipid clinic but I have been told this will be over a year away and I have already waited 5 months.

I sincerely hope your son will not inherit the condition. Sadly my daughter had a cholesterol of 12 and has a diagnosis already. Once again, many thanks for your reply and all the best to you. X

[valeriep in reply to Tiggs876]

I also attend the lipid clinic at Hammersmith Hospital and I think the treatment they offer is great! I did test positive for FH and have been assured that I receive state-of-current-knowledge medication. They told me that a lot of research, including the discovery of new markers, is currently being done in this area and also that there is a 50 per cent chance of inheriting FH from a parent who has it. I did, my sister didn't - luck of the draw!

[Happypainter in reply to valeriep]

Thank you for your reply. I will definitely look into The Hammersmith. Good luck with everything going forwards.

[Tiggs876]

You are more than welcome. My GP made an urgent referral for me (not sure why but that was good) to the lipid clinic so I was seen within 6 months. Very comprehensive blood tests including Lipo(a) & Lipo(b) were done prior to my first appointment and I had to attend the hospital for those as they aren’t done via GP blood tests. I also had a coronary artery scan. I attended hospital for my first & second appointments and as my numbers were reducing & my scan was good I have been able to have a telephone review appointments which saves me having to travel into London every 6 months. 2 weeks prior to the phone appointment I get my GP surgery to do my blood tests and get the results emailed over to the Hammersmith. Best of luck I hope you get referred soon.

[Happypainter in reply to Tiggs876]

Thank you so much for all your information and advice. I am very grateful. All the very best to you.

[Lowerfield_no_more]

I found out that I have a very high total cholesterol of 9+ over 25 years ago, and have been taking statins ever since and recently have added ezetimibe. It is highly likely I have a genetic link to FH of some sort, especially since my cousins also have very high cholesterol and have attended a lipid clinic and been told they have a variant of FH. In the days I was diagnosed there was no such thing as lipid clinics so I have never attended one nor been offered that opportunity, especially since my total cholesterol is now under 4 and the lipid profile within it is OK. But as you and others have noted above there are a variety of treatments now available for treating the symptoms of FH and anyone who likely qualifies should be offered a lipid clinic so initially I suggest you discuss that with your GP if you have not done so already, who should offer you a referral, for whether you choose to go the private medicine route or NHS which may also give you the opportunity of where to go under the NHS charter. Finally you should be aware that outside of medication there are lifestyle measures which will help you reduce your heart health risk such as diet, exercise, alcohol, smoking and body weight management and these are all covered on the BHF webpages as well as other sources.

[Happypainter in reply to Lowerfield_no_more]

Thank you so much for all of your comments. I am also very conscious of living a healthy lifestyle. I wasn’t too worried until my results from a cardiac scan said I had severe calcification so I want to make sure I have best meds available. Once again many thanks and all the best for the future.

[Lowerfield_no_more]

I found out that I have a very high total cholesterol of 9+ over 25 years ago, and have been taking statins ever since and recently have added ezetimibe. It is highly likely I have a genetic link to FH of some sort, especially since my cousins also have very high cholesterol and have attended a lipid clinic and been told they have a variant of FH. In the days I was diagnosed there was no such thing as lipid clinics so I have never attended one nor been offered that opportunity, especially since my total cholesterol is now under 4 and the lipid profile within it is OK. But as you and others have noted above there are a variety of treatments now available for treating the symptoms of FH and anyone who likely qualifies should be offered a lipid clinic so initially I suggest you discuss that with your GP if you have not done so already, who should offer you a referral, for whether you choose to go the private medicine route or NHS which may also give you the opportunity of where to go under the NHS charter. Finally you should be aware that outside of medication there are lifestyle measures which will help you reduce your heart health risk such as diet, exercise, alcohol, smoking and body weight management and these are all covered on the BHF webpages as well as other sources. So in short there is no need to get too concerned about your diagnosis of FH since with treatment by medication now available, and self imposed lifestyle management, the prospects are very favourable for a long fulfilling life like many many others who have the same disorder.

[Astronomyrules]

Hi, I've only just caught up with your post. I was in my early 50s , ( my mother and her father both died of heart attacks in their 50s),when diagnosed with FH. Cholesterol around 13.7 . I ve had various procedures in my 50s and again in my late 60s. I am now 72 and have had a good life since my diagnosis. I take a low dose stating, ezetimibe and repatha injections. The injections reduced my cholesterol down to around 2. I wish I'd known about the Hammersmith Clinic. It definitely sounds like the place to go, even though I live in Devon. My main reason for replying concerns your child. Please reassure yourself that having been diagnosed early she will be well looked after and treatment is improving all the time. I also wanted to stress that keeping active is very important due to the long-term risks of peripheral artery problems where cholesterol is raised. Wishing you all the best on your journey.

[Astronomyrules]

Hi, I've only just caught up with your post. I was in my early 50s , ( my mother and her father both died of heart attacks in their 50s),when diagnosed with FH. Cholesterol around 13.7 . I ve had various procedures in my 50s and again in my late 60s. I am now 72 and have had a good life since my diagnosis. I take a low dose stating, ezetimibe and repatha injections. The injections reduced my cholesterol down to around 2. I wish I'd known about the Hammersmith Clinic. It definitely sounds like the place to go, even though I live in Devon. My main reason for replying concerns your child. Please reassure yourself that having been diagnosed early she will be well looked after and treatment is improving all the time. I also wanted to stress that keeping active is very important due to the long-term risks of peripheral artery problems where cholesterol is raised. Wishing you all the best on your journey.

[Happypainter in reply to Astronomyrules]

Hi, Thank you so much for taking the time to reply to my post. It is very reassuring to hear of your experience and the life you have now. I am also reassured re my daughter, so thank you. Exercise is going to be my next life changer, I suffer with arthritis which makes it a bit tricky but I have bought a snorkel so I can swim without straining my back. Onwards and upwards. Thanks again x

[Astronomyrules in reply to Happypainter]

Sorry to hear that you also have to cope with arthritis.Swimming is an excellent excellent exercise. Maybe something like Tai chi.or Pilates would help. Walking has been shown to be highly beneficial as has cycling if you can manage it.Good luck.

[Happypainter in reply to Astronomyrules]

Sorry for late reply I’m afraid I get confused with technology. I’ve started Pilates and it is brilliant. Thank you.