Familial Hypercholesterolemia (FH): Fighting your own Genes

A routine blood test almost fifteen years ago showed that my sister’s cholesterol levels were very high. Much higher than would be expected of anyone her age or medical history. My sister’s diagnosis prompted me and our mother to get our levels checked too and of course, you guessed it, through the roof! Subsequent
genetic testing for me revealed that not only was it Familial Hypercholesterolemia
(FH) but that I didn’t have the gene from the only parent. Both my parents have it. Only 1 in 1 million people worldwide inherit the gene from both parents (Homozygous FH – HoFH). What are the chances?

FH is a massively underdiagnosed genetic disorder that greatly increases an individual’s risk of premature death from strokes and heart attacks. That’s putting it very simply. The British Heart Foundation (BHF) goes into great detail about it, as
does the FH Foundation, but what FH has meant to me has been a total mind shift.
It has affected:

Planning for my child – I had to be off my medication while trying to conceive and then of course during pregnancy and then afterward while breastfeeding. This has given my levels a chance to shoot up to levels they haven’t been at since I was first diagnosed. I found it quite striking that my FH diagnosis did not put me in a high-risk category during pregnancy. In fact, my midwives barely wanted to hear about it. It had no bearing on how I was monitored and this is something that needs to change.

My attention to stress management – like any liver-related disease, FH is affected by high-stress lifestyles. I knew I had to make some changes especially in relation to
my work life.

My diet – I can be naughty and have the occasional chocolate cake and vanilla ice cream (my ultimate dessert) but it truly has to be occasional and in minimal quantities. FH patients, according to research, cannot lower their levels with a proper diet. Particularly when their levels are off the homozygous variety. They do have to
make sure they are not worsening the situation by stuffing their faces full of cakes
though.

FH can be a silent killer. That’s because it’s not about being overweight or having a
bad diet. It’s been the obvious cause of death for some but as I mentioned above,
not many people would be able to guess that they have it.

As far as I can remember, I was asymptomatic until I found out. I didn’t have any of the markers of someone with high cholesterol. Save for slightly flabbier arms than I would have liked, I was slim. A UK size 8. I never noticed any swelling in my ankles, for example, and I always felt fine.

Fast forward to present day me and I’m skinnier than I was back then (about a UK size 6) but my ankles do swell when I’ve been on my feet too long or have been on a flight. However, my bad cholesterol level is at 8.5mmol/L, almost as high as it was fifteen years ago.

Before I had my child almost two years ago, I was not only on a daily statin but also on a bi-weekly injection. That injection became the thing I dreaded the most but it also lowered my cholesterol to levels that it had never been at before (4.5mmol/L).

Other FH patients even need a third mode of attack when pills and injections are not enough to lower bad cholesterol levels.

There are five steps that are now important for you to take:

1. Speak to your doctor about getting your cholesterol levels checked. If they’re high, find out if it’s possible to get genetic testing done. Genetic testing may not be available everywhere but the clue is in the higher-than-normal-
   high lipid levels as a first step. In the absence of gene tests, abnormal thyroid function is another pointer. Speak up. Push for more attention. Contrary to what anyone may believe, this is a matter of your life or death.
2. If genetic testing reveals that you have the gene, it may be useful for you to know which kind – heterozygous or homozygous. You’ll also need to request a
   neck scan if you’re not immediately sent for one. This will give you an idea of how much damage has already been done by this disease. Again, I have to emphasize the importance of speaking up and not being afraid to educate your doctor on what you know.
3. You’ll then need to urge your family members to get checked – father,
   mother, siblings. If you have children, they can get tested from the age of 5, I
   believe.
4. Figure out with your doctor and based on your levels, which course of
   medication to embark upon and check frequently to see if and by how
   much your cholesterol levels have lowered so that you can reduce your
   dosage if possible. You shouldn’t be on high doses of any medication if you
   don’t need to be.
5. A complete lifestyle change may need to take place depending on how health-conscious you’ve been to date. This could include an increase in daily activity and eating more heart-healthy foods.

In conclusion, create a support system for yourself, even if it’s only made up of a couple of people. This is a chronic, life-long disease (for now, anyway) but there are so few people who are aware of it or care enough about it that you will need to make your own village of health support. People who will nag you about regular testing and staying on top of your medications, as well as staying abreast of research.

About the blogger:

Abby is a daughter, sister, wife and mum of a little girl. She’s a writer and financial services professional and has an educational background in Gender & Politics, which makes for an interesting perspective on her blog kinunplugged.com.