As part of National Cholesterol Month 2022, Kay Haughton discusses her personal experience with FH

To mark National Cholesterol Month, October 2022, Kay Haughton, Nurse and Director of Transformation, West of England AHSN discusses her personal experience with Familial Hypercholesteremia (FH) and why she is a passionate supporter of the FH child parent screening programme.

Without the Lipid programme I might not be writing this today- a dramatic beginning to my blog but it is the truth.

Let’s start with my family history, my Mum died in 2006, she had a heart attack, was taken to hospital, had an emergency stenting and died 10 days later. She was 64 and it was a huge shock to me and my siblings.

At that time, aged 43, I went to see my GP and had a cholesterol check. It came back high, as about 7.4mmol/L* (I can’t remember exactly!). My GP asked me a series of questions and concluded that my risk factors were still low, (normal blood pressure, normal weight, I didn’t smoke) and so no action was taken. I continued to live as I always had, exercised, ate a healthy diet, and didn’t really think about it again. Until, that is, we started the lipid optimisation programme at the AHSN.

I decided to revisit my GP (a different one, the previous one had retired) and had a cholesterol check which came back higher again, as total cholesterol 8.5mmol/L and LDL around 5.1mmol/L. After discussion with my GP, I was referred to an endocrinologist. This was during the summer of 2020 and I received a letter informing me that no endocrinology referrals were being accepted due to Covid.

I finally had an appointment with a nurse in March 2021 and she requested I urgently be commenced on Atorvastatin (a statin medication used to prevent cardiovascular disease) at 40mgs. In April 2021 I was diagnosed with FH and I subsequently had an appointment with an endocrinologist. At this appointment I gave my family history again and was referred to a cardiologist. This was during lock down, so I had a phone call with the cardiologist, who decided to be cautious and ordered a CT scan.

Once FH was diagnosed my immediate family were informed and they had tests- fortunately neither of my siblings have the condition.

Fast forward to June, I had a fasting blood test which showed my total cholesterol as 6.2mmol/L and Non HDL as 4.5mmol/L. This showed a modest reduction but the cholesterol remained elevated. At this stage, the Atorvastatin was increased to 80mg.

I cannot remember exactly when I had the CT scan, it was quite scary as they had to give me an IV betablocker during the test, but all went well and after not hearing anything I assumed all was normal.

I had a repeat fasting blood test in November 2021 and contacted my consultant for the results. I cannot recall what my cholesterol was at this time, but my medication was increased to include Ezetimibe (a type of medicine used to lower cholesterol), so it clearly was not at the right level. I also mentioned that I had not had the results from the cardiology scan a couple of months previously.

So, as you can imagine, it was very scary to receive a phone call from my cardiologist three months later telling me I had a significant proximal stenosis (narrowing) in my Left Anterior Descending artery and that I needed an emergency stenting. This transported me back to the time my Mum had her stenting and her subsequent death. I had a horrible few days, writing a will, telling my children (who both live overseas) about the procedure and, although I was reassured by the cardiologist, I was terrified.

I was very well supported on the day, my daughter had come home to be with me, my partner and my best friend all came with me to the hospital but were not allowed into the ward due to Covid. However, I was very comforted to know they stayed close by all day.

The procedure went well and a subsequent visit to my cardiologist informed me that my arteries and the previous damage to my heart are now all normal. It was very scary to hear I had ‘subtotal occlusion in the proximal segment with more than 70% stenosis in my Left Anterior Descending artery’ but reassuring to hear the procedure was performed successfully with no complications. However, my cholesterol was still not at an acceptable level, and I was commenced on Repatha (PCSK9i), which I must inject myself with every 2 weeks. This has had a dramatic effect and my cholesterol is now within normal levels.

I will be on Atorvastatin and aspirin for life and the anti-coagulant for another 6 months. I can’t wait to stop that as the bruises are terrible! I haven’t been told how long I’ll be taking the PCSK9i- or if I can move onto Inclisiran (which is an injection every 6 months) in the future. I feel fortunate that I am well informed, and that the treatment is working.

Whilst I am now being treated and will hopefully be OK, I am left with the anxiety that my children may have the same condition and they are struggling to get a test as they live outside the U.K. Also, my life has changed, I am on medication for life, and that has had an impact on the way I feel about getting older. I have just celebrated my 60th birthday and I know I am lucky to have avoided having a heart attack. My mum wasn’t so lucky and I wonder if I would have been if we hadn’t embarked on the lipid programme at the AHSN.

I am now passionate about the child parent screening programme which we are piloting and the case finding element of our programme which will save lives.

Familial Hypercholesterolaemia (FH) is an inherited condition passed down through families which can lead to extremely high cholesterol levels. It affects 1 in 250 people in the UK, yet over 90% of cases are still undiagnosed. Child-parent screening offers a population wide, low-cost solution to the management of CVD and is currently the best model for FH detection. In the West of England, we hope to screen circa 3000 children for FH to March 2023.

Find out more about child-parent screening and the work we are doing to reduce death and disability due to premature CVD.

*A healthy cholesterol is below 4 mmol/L, non HDL cholesterol below 2.5 mmol/L and LDL cholesterol below 2 mmol/L. There are many reasons for cholesterol to the elevated but if cholesterol is above 7.5 mmol/L or LDL cholesterol above 5 mmol/L then genetic causes such as familial hypercholesterolaemia (FH) are much more common (although some patients with FH have lower levels).

Posted on September 14, 2022 by Kay Haughton, Director of Transformation, West of England AHSN

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