Is High Cholesterol Genetic? 

Dr Jess says: Mostly, high cholesterol is a result of diet, lifestyle, age factors and inflammation. However, for some people, there may be a genetic component to having raised cholesterol. This is called familial hypercholesterolemia and unlike other types of raised cholesterol, this often requires medication, because the risk of stroke or heart attack is very high. Familial hypercholesterolemia can affect anyone of any age! I was diagnosed myself during my med school years and have to constantly monitor my own cholesterol levels to ensure my own risk factors stay minimised. The good news is that if I can manage it, you can too! 

what is cholesterol?

Cholesterol – as is evident from its name, is a sterol, a fatty type of substance that is present in the blood and in most cell membranes. Our bodies need cholesterol to function correctly as it helps to regulate our hormones, bile salts and keeps our cell membranes lubricated and fluid. As a fat, cholesterol won’t dissolve in water and so it is attached to a protein carrier and called a lipoprotein. 

There are two main cholesterol-carrying lipoproteins in our body, LDL (low-density lipoprotein) and HDL(high-density lipoprotein). HDL and LDL are measured as part of a standard blood test to measure cholesterol. 

how will I know if I have high cholesterol?

Six out of 10 adults have raised cholesterol in the UK. The idea that by lowering our cholesterol, we also reduce our risk of heart disease and stroke is one of the biggest health myths out there.1

For years, people have been taught that high cholesterol = bad and low cholesterol = good, but it isn’t that simple. To prove that point, as a nation, the Swiss have one of the highest rates of cholesterol, yet one of the lowest rates of heart disease. 

Standard cholesterol testing has a long way to go before it can accurately assess your risk of contracting heart disease or suffering a stroke. Private testing, however, can now differentiate between the different types of cholesterol and give a much clearer picture of an individual’s risk, including whether there are cholesterol-based particles in your blood that could increase your risk of cardiovascular (heart and blood vessel) disease.2 

Our bodies need cholesterol to function effectively. It is used for vitamin D, hormones, cell membranes and essential brain and nerve cell function. There are several studies demonstrating that low cholesterol and low LDL (one of the types of cholesterol) increases the risk of death from other causes.3,4 A recent British Medical Journal review also showed that elderly people with high LDL (the so-called ‘bad’ cholesterol) may live longer than those with low LDL,5 challenging the cholesterol theory entirely. 

This all makes it more likely that we need to look at cholesterol levels alongside other health markers, not on their own. More sophisticated cholesterol testing can evaluate a range of associated markers simultaneously. This can help with prescribing more useful treatments for patients. 

Cholesterol results should be taken in the context of other tests as part of a comprehensive health assessment. By assessing your other risk factors such as your age, family history, other medical conditions, raised blood sugar or evidence of inflammation, you can make more informed choices. Working with a functional medicine practitioner alongside your medical specialist can be a great idea to help find the best ways to optimise your health. If you are diagnosed with familial hypercholesterolaemia, medication is often needed, but supplements to reduce cholesterol can also be used to support your health journey. 

familial hypercholesterolemia

This a genetic condition based on several different genes (on chromosome 19). It  is autosomal dominant, which means that it has a very high risk of being passed on if your parent has it, and it may affect as many as 1 in 200 people in the UK6.

This condition means that you are likely to have much higher cholesterol than an average member of the population, which will likely be picked up on a cholesterol blood test. The high amount of cholesterol may also cause fatty lumps on your tendons (usually in the hands and Achilles), called tendon xanthomata (up to 70% of people with this have them) or fatty deposits under the skin around your eyes called xanthelasma. If you have total cholesterol >7.5 (especially if >9), LDL >4.5 and xanthomata it is likely you could have this condition, especially if your relatives have high cholesterol or have had a heart attack aged under 55 years.7 You can then be referred to a specialist for familial hypercholesterolemia, who can do further genetic testing. 

As this is a genetic condition, it is also important to screen your relatives and any children if you are diagnosed with it. If you have familial hypercholesterolemia your risk of dying from heart disease is ten times greater, so it is extremely important to reduce cholesterol levels. You will likely need medication like statins (which you can take alongside our recommended natural supports for avoiding heart disease).

Whatever your reasons for having high cholesterol, working with a functional medicine practitioner alongside your GP can be a great way to help manage any medication you may need to take and to advise on natural supports and supplements to reduce your cholesterol.  

apolipoprotein E/ APOE 

Apart from familial hypercholesteremia, there are a range of important genetic variations that you should consider testing for if you have abnormal cholesterol. These are called SNPS – single nucleotide polymorphisms. The most important one to know for cholesterol is APOE.

Apolipoprotein E is a type of lipoprotein involved in cholesterol clearance and metabolism and is the main cholesterol carrier in the brain. There are three gene types E2 (best), E3 or E4 (worst) and you get one from each parent, so we each have a combination of the two: e.g. E 3/4.  

Your APOE gene type affects your risk of heart disease. If you have any E4 present,  you have an increased risk of high cholesterol and LDL, low HDL, diabetes, heart disease and Alzheimer’s. This risk is worsened if you smoke or drink alcohol, so try to avoid both.57 You can do a simple mouth swab DNA test to find out which genotype you are. 

If you have an E4 gene type, it is important to work on diet and lifestyle. Consider seeing a functional medicine practitioner and taking supplements like red rice yeast extract. Some people with E4 variations may need to limit fat in their diet. With regular testing, it should be possible to predict how much impact fat has on your cholesterol markers. 

(Dr Jess has E3/4, as do one in five of the population so try not to worry. It just means you have to think more carefully about preventing long-term health problems through your diet.) 

 

other articles in this series:

references:

  1. Ravnskov U. The fallacies of the lipid hypothesis. Scand Cardiovasc J. 2008 Aug;42(4):236-9. doi: 10.1080/14017430801983082. PMID: 18615352.
  2. German CA, Shapiro MD. Assessing Atherosclerotic Cardiovascular Disease Risk with Advanced Lipid Testing: State of the Science. Eur Cardiol. 2020 Jul 15;15:e56. doi: 10.15420/ecr.2019.18. PMID: 32742310; PMCID: PMC7387892.
  3. Zhou L, Wu Y, Yu S, Shen Y, Ke C. Low-density lipoprotein cholesterol and all-cause mortality: findings from the China health and retirement longitudinal study. BMJ Open. 2020 Aug 16;10(8):e036976. doi: 10.1136/bmjopen-2020-036976. PMID: 32801200; PMCID: PMC7430481.
  4. Simes RJ. Low cholesterol and risk of non-coronary mortality. Aust N Z J Med. 1994 Feb;24(1):113-9. doi: 10.1111/j.1445-5994.1994.tb04446.x. PMID: 8002849.
  5. Ravnskov U, Diamond DM, Hama R, Hamazaki T, Hammarskjöld B, Hynes N, Kendrick M, Langsjoen PH, Malhotra A, Mascitelli L, McCully KS, Ogushi Y, Okuyama H, Rosch PJ, Schersten T, Sultan S, Sundberg R. Lack of an association or an inverse association between low-density-lipoprotein cholesterol and mortality in the elderly: a systematic review. BMJ Open. 2016 Jun 12;6(6):e010401. doi: 10.1136/bmjopen-2015-010401. PMID: 27292972; PMCID: PMC4908872.
  6. Bouhairie VE, Goldberg AC. Familial hypercholesterolemia. Cardiol Clin. 2015 May;33(2):169-79. doi: 10.1016/j.ccl.2015.01.001. PMID: 25939291; PMCID: PMC4472364.
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