In the summer of 2019, we were sad to lose a member of both the Niche Pens and Adams family, Jerry. He was Ray’s brother, and Ross’ uncle, and the part time odd job man at the Niche Pens offices. He sadly suffered an unexpected heart attack and died aged only 58. It turns out that he had coronary artery disease which has largely diagnosed.
Due to this, the doctors who treated Jerry suggested that Ray and his other siblings all get tested for Coronary Artery Disease. Ray was the first to visit the local St Joseph’s private hospital in Newport which offers a range of tests including a CT angiogram. In this test, a dye is injected into the blood stream so that an x-ray can assess any narrowing of arteries. Such a narrowing shows the beginnings of coronary heart disease and the risk which can lead to a heart attack. It turns out that Ray did have a narrowing, in the artery nicknamed the ‘widow-maker’ (for obvious reasons) causing a restriction in blood flow of 70%. Even though he had no symptoms to suggest a problem, a blockage of this type is a ticking time-bomb and the doctors advised that it was only a matter of time until he would suffer a heart attack. Depending on the location and circumstances of this, it may very well have been fatal.
The treatment was a stent which is a metal tube inserted into the narrowed area to hold it open and return it back to a more normal level of blood flow. This was duly done and a lifetime of medication prescribed to treat the causes of the original blockage. A blood test was also taken on the advice of one of the nurses to test for an inherited condition called Familial Hypercholesterolemia (FH).
After a few months, the test result came back and confirmed that Ray had inherited FH. There is a 50% chance of inheriting it from a parent so now Ross and his siter Kelly will be tested to check if they too have inherited the condition. Ross had a blood test soon after Jerry's passing which confirmed his cholesterol was a lot higher than would be expected at his age and because of the family history, the clinicians feel that it is very likely he has also inherited FH. This will mean he will be prescribed statin medication at age 32 to reduce the future risks of the high cholesterol levels causing a blockage to his arteries over time.
What is Familial Hypercholesterolemia?
Familial simply means from family, so it is an inherited disorder. Hypercholestrerol means high cholesterol and emia means ‘in blood’. Therefore, it is an inherited high level of cholesterol in your blood.
Cholesterol is a fat which is naturally occurring in any human or animal’s blood. It can also be consumed in the food you eat but is only found in animal products like meat, eggs and dairy. Your body deals with excess cholesterol in your liver.
Cholesterol comes in a few forms: Some is good for you (HDL) and some is bad for you (LDL). The good HDL essentially lubricates your arteries, whereas the bad LDL slowly blocks your arteries. If your LDL is too high, over time your arteries will become furred up with plaque deposits and this restricts blood flow around your body. Changing to a more healthy diet and staying active can normally help, but if you have inherited FH, you liver is unable to remove the bad cholesterol (LDL) so there is nothing you can do apart from a lifetime of medication to bring the levels down to a safe amount.
There are two types of FH - hetero-FH and homo-FH. The hetro-FH is inherited from a parent and there is a 50% chance of this happening if one of your parents has it. If untreated, hetero-FH will cause of reduction in life expectancy of between 15 and 30 years.
If both parents have FH, there is the same 50% risk of inheriting hetro-FH but also a 25% chance of inheriting homo-FH which is much more severe and, if untreated, causes a total life expectancy of less than 30. This is so rare that less than 300 people in the UK are likely to have it. There is now tablet treatment for it, but until quite recently it needed dialysis was needed to clean the blood of the dangerously high cholesterol.
The key point here is ‘if untreated’ – because if medication is taken then a normal lifestyle and life expectancy can be enjoyed. Sadly, around 90% of people with FH are never diagnosed. It is estimated that around 1 in 250 people have FH and given that there are around 275,000 in the UK with the condition, that means 245,000 of them don’t know they have it, which is staggering. The medicine to treat it is a Statin, which is the most commonly prescribed drug in the UK already. If you have inherited FH, the narrowing of arteries begins before birth and will continue until treatment is undertaken.
How do you get tested?
A cholesterol blood test is not commonly carried out by a GP and there are no symptoms of high cholesterol. Your GP may suggest a test if there are some indicators such as advancing age, being overweight, having high blood pressure or having diabetes. The NHS suggest being asked to be tested if you have not been tested and are now over 40.
The fact that someone with FH is likely to have had substantial narrowing of their arteries by the age of 40, it is advisable to have the test much earlier than this and if you have a family history of heart disease, much sooner. Without sounding like we’re scaremongering, if FH reduces you life expectancy to potentially 55, having a test at 40-45 is going to be too late to have any lasting treatment.
Heart UK, the Cholesterol charity, advise that if you have a family history of heart disease or heart attacks before the age of 55 in men and 65 in women, that you should get your own cholesterol checked.
More information can be found on the Heart UK website here