Genetic mutation and cholesterol

Written by
29th August 2017

Given that we humans can be traced back through an evolutionary process which embraces both monkeys and fish, or dare I say pondlife, I think we can all agree that genetic mutation is a good thing.

But regrettably, there are negative aspects too. One of my patients has been told she has a negative genetic mutation which relates to her cholesterol level. As you may know, high cholesterol is a risk factor for heart disease. A fit and slim woman in her early 60s, her cholesterol was checked purely by chance. She was at her local pharmacy where a free health check for over 50s was on offer. She wasn’t in a hurry and the pharmacy’s private room was free so she decided to go ahead.

All was going fine until the nurse took a little bit of blood. She left the room and returned again with the pharmacist who said to my patient: “Your cholesterol is high, you need to talk to your doctor.” In case you don’t know, the amount of cholesterol we have in the blood should be kept low, although we all need a certain amount of healthy cholesterol. The medical profession likes the ratio to be 5mmol/L or less, particularly for those at risk of heart disease. My patient’s level was 8.6.

She is fortunate to live in London and was referred to the endocrine clinic at St. Thomas’s Hospital where she tells me the care is superlative. She underwent a full range of tests which established she has a condition known as Familial Hypocholesteraemia, in other words inherited high cholesterol. A scan of the artery in her neck showed that the high cholesterol in her blood had already had an impact and the walls were thicker than would be expected of a woman of her age. This convinced her that she needed to go on a low dose of statins. Over the course of a year or so, her cholesterol level has dropped to 5 – a much safer level.

Her specialist has advised that both her children should be tested. They have a 50/50 chance of having inherited the FC condition. By getting a diagnosis now they could go on statins earlier and not experience the thickening that their mother has in her arteries.

While I have felt for my patient as she has adjusted to living life differently, cutting down on fat in her diet and moderating sugar and alcohol intake, I am also glad that she got the diagnosis, for her and for her children.

Whenever I get chatting to patients about their health now, I recommend the following website. There is also good information here.

Thank goodness for the NHS and the role of health checks in over 50s.



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