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Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is the poster child of Heart UK, and I have been taken to task in the past as my opinion has little value on the subject so I thought I’d do a little research of the subject.

Now I’m sure it is apparent to those members who have the condition (or indeed think they have it) that there are two main gradations of the condition, heterozygous, where one parent has the defective gene and homozygous where both parents pass it on. The respective chances are 1/500 and - 1/1,000,000. Those unlucky to have inherited the more serious condition generally die young and treatment options are limited. For now let us confine our deliberations to the less serious version whilst bearing in mind there are many nuances of the condition and conditions that mimic FH.

Before I go any further I’d like to say that I do not think I have FH. What I do have is a healthy skepticism of current guidelines offered to the general public in preventing heart disease and by extrapolation this extends to FH. I am no expert and there are sites specifically dealing with FH. This is just a sober exercise in thinking.

Let’s assume for now that I have been diagnosed with the less serious version of FH and have been offered statin treatment as a first line of defence. Now, given my stance on the role of diet and medication this would not be the road I would go down initially, given that I had been living with the condition for say 30 years; though if it were demonstrated to be my only option then I would accept it and get on with my life. However, lets have a look at the past.

I have stated in previous posts that people with FH in the past lived active lives and achieved a normal, or indeed longer life spans than the general public and probably 80% of people with the condition go undiagnosed. Now 1/500 is not an insignificant percentage of the population and parallels those with Parkinson’s, so you would think that the emphasis on condition and cure would be roughly equal, but apparently not. Could this be that that FH is not considered as serious as Parkinson’s?

Maybe.

What I have come up with are from respected sources which at the very least should provoke reasoned comment. Apologies for it being a little scrappy, but I think you’ll get the gist.

Feel free to attack the science, but please leave out the ad hominem stuff.

ncbi.nlm.nih.gov/pmc/articl...

The take home for me in the above is in the conclusions:

…strong interaction with environmental factors (food?)

ncbi.nlm.nih.gov/pubmed/200...

ravnskov.nu/the%20benefits%...

(Look down to ‘Is familial hypercholesterolaemia a disease?’)

Here’s Dr. Malcolm Kendrick’s take:

drmalcolmkendrick.org/2013/...

There is one blindingly obvious factor which is ignored when the subject of FH comes up - high cholesterol cannot possibly be the cause of FH. With a lack of or poorly functioning LDL receptors it’s hardly surprising that there is an excess of LDL in the blood, so treating it with statins might be considered treating the marker for the condition. Statins have a powerful anti-inflammatory effect and those inflammatory responses might not arise if the Standard American Diet (which consists mainly of highly refined carbohydrate and easily oxidisable polyunsaturated ‘heart healthy’ seed oils) were replaced with saturated fats and carbohydrate consisting of lots of vegetables and some fruit.

Below is an article criticising Noakes’ LCHF stance, look at the first comment, anecdotal I know but illustrates that some people with FH are not afraid of the alternative:

sabreakingnews.co.za/2014/0...

British Journal of Clinical Pharmacology

Professional athletes suffering from familial hypercholesterolaemia rarely tolerate statin treatment because of muscular problems.

The paper’s authors are from Austria and examined case histories of Austrian professional athletes who attempted to go on statin therapy to treat genetically high cholesterol. Out of 22 athletes, only three were able to tolerate the first statin they were prescribed. Three more were able to eventually tolerate a statin other than the first one prescribed. The remaining 16 — 72% of the total — ended up refusing statin therapy. You can probably guess what it was about statins that most of the athletes couldn’t tolerate: muscle pain and muscle weakness.

The authors noted that in reviews of multiple clinical trials, muscle problems were reported in 5% of those taking statins on average. They also noted that in a study of statin-takers who engage in strenuous exercise, muscle problems affected closer to 25%. Now in this study we’ve got 72% of professional athletes (in an admittedly small sample size) saying they can’t tolerate statins of any kind because of muscle problems, with 86% percent unable to tolerate the first statin prescribed.

westonaprice.org/modern-dis...

westonaprice.org/modern-dis...

(FH not as dangerous as you may think)

Were I diagnosed with FH T2 at say age 30 I would not start taking a powerful and controversial drug as a first line of defence if returning to our ancestral diets, abandoned in the not too distant past, might just do the trick. After all, tinkering with my diet for 6 months is hardly going to kill me. I would do a huge amount of research bearing in mind that heart disease was largely unknown before 1921; and that included the 1/500 that had FH then.

“I began my practice as a cardiologist in 1921 and I never saw a

Myocardial Infarction patient until 1928. Back in the MI free

days before 1920, the fats were butter and lard and I think that we

would all benefit from the kind of diet that we had at a time when

no one had ever heard the words corn oil.”

Dr. Dudley White

fda.gov/downloads/Drugs/Gui...

(read very carefully last paragraph page 1, second to last sentence).

The road to perfect health is not strewn with statins nor any other medication, nor is a lack of medication the cause of disease (rather the reverse).

If your position is ‘Yeah, the usual suspects’, well yes of course they are a source given that I’m looking for the alternative to the current paradigm.

If therefore at sometime in the future it is firmly established that elevated cholesterol (or however you wish to describe it) is not the cause of heart disease then premature death from those diagnosed with the condition FH has to have another cause.

If you have elevated blood sugar most of the time by consuming processed carbohydrate I would suggest that is the root cause of …both in the general population and in those with FH

The bottom line for me is that sugar (and of course chronically elevated insulin) whether added or in ‘heart healthy’ pasta, potato, rice, bread is the cause of the obesity, diabetes etc epidemic, no question, but unless we lose the fear of saturated, rather than poly/mono/trans (remember ‘heart healthy’ trans fat?) then you will be condemned to filling the energy gap with the foods that are causing the problems. Fortunately the tide is turning and the public are getting the message. Sadly the powers that be are still dragging their heels.

“A fifteen-year study of 7,038 French policemen in Paris

reported that ‘The earliest marker of a higher risk of coronary

heart disease mortality is an elevation of serum insulin level.’

A study of middle-aged non-diabetic women at the University of

Pittsburgh showed an increasing risk of heart disease as serum

insulin levels increased. My personal experience with diabetic

patients is very simple. When we reduce dietary carbohydrate,

blood sugars improved dramatically. After about two months of

improved blood sugars, we repeat our studies of lipid profiles and

thrombotic risk factors. In the great majority of cases, I see

normalisation or improvement. If your physician finds all of this

hard to believe, he or she might benefit from reading the

seventy articles and abstracts on the subject contained in the

proceedings of the fifteenth International Diabetes Foundation

Satellite Symposium on ‘Diabetes and Macrovascular

Complications, Diabetes 45, Supplement 3, July 1996.”

Richard K. Bernstein, M.D.

Author of “Diabetes Solution”

In closing here’s a link to a site treating epileptic children with diet, one completely at odds with dietary advice, yet proven beyond doubt to benefit people who’s condition cannot be treated with conventional epileptic drugs.

site.matthewsfriends.org/in...

Familial Hypercholesterolaemia (FH) is the poster child of Heart UK, and I have been taken to task in the past as I don't have the condition and know nothing of the subject my opinion has little value, so I thought I'd do a little research of the subject.

Now I’m sure it is apparent to those members who have the condition (or indeed think they have it) that there are two main gradations of the condition, heterozygous, where one parent has the defective gene and homozygous where both parents pass it on. The respective chances are 1/500 and - 1/1,000,000. Those unlucky to have inherited the more serious condition generally die young and treatment options are limited. For now let us confine our deliberations to the less serious version whilst bearing in mind there are many nuances of the condition and conditions that mimic FH.

Before I go any further I'd like to say that I do not think I have FH. What I do have is a healthy skepticism of current guidelines offered to the general public in preventing heart disease and by extrapolation this extends to FH. I am no expert and there are sites specifically dealing with FH. This is just a sober exercise in thinking.

Let’s assume for now that I have been diagnosed with the less serious version of FH and have been offered statin treatment as a first line of defence. Now, given my stance on the role of diet and medication this would not be the road I would go down initially given the nasty side effect many people experience, given that I had been living with the condition for say 30 years (though if it were clearly demonstrated to be my only option then I would accept it and get on with my life). However, lets have a look at the past.

I have stated in previous posts that people with FH in the past lived active lives and achieved a normal, or indeed longer life spans than the general public and probably 80% of people with the condition go undiagnosed. Now 1/500 is not an insignificant percentage of the population and parallels those with Parkinson’s, so you would think that the emphasis on condition and cure would be roughly equal, but apparently not. Could this be that that FH is not considered as serious as Parkinson’s?

Maybe.

What I have come up with are from respected sources which at the very least should provoke reasoned comment. Apologies for it being a little scrappy, but I think you'll get the gist.

Feel free to attack the science, but please leave out the ad hominem stuff.

ncbi.nlm.nih.gov/pmc/ar...

The take home for me in the above is in the conclusions:

…strong interaction with environmental factors (food?)

ncbi.nlm.nih.gov/pubmed...

ravnskov.nu/the%20benef...

(Look down to ‘Is familial hypercholesterolaemia a disease?’)

Here’s Dr. Malcolm Kendrick’s take:

drmalcolmkendrick.org/2013/...

There is one blindingly obvious factor which is ignored when the subject of FH comes up - high cholesterol cannot possibly be the cause of FH. With a lack of or poorly functioning LDL receptors it’s hardly surprising that there is an excess of LDL in the blood, so treating it with statins might be considered treating the marker for the condition. Statins have a powerful anti-inflammatory effect and those inflammatory responses might not arise if the Standard American Diet - to which the UK and most of the developed world subscribe (which consists mainly of highly refined carbohydrate and easily oxidisable polyunsaturated ‘heart healthy’ seed oils) were replaced with saturated fats and carbohydrate consisting of lots of vegetables and some fruit.

Below is an article criticising Noakes’ LCHF stance, look at the first comment, anecdotal I know but illustrates that some people with FH are not afraid of the alternative:

sabreakingnews.co.za/20...

British Journal of Clinical Pharmacology

Professional athletes suffering from familial hypercholesterolaemia rarely tolerate statin treatment because of muscular problems.

The paper’s authors are from Austria and examined case histories of Austrian professional athletes who attempted to go on statin therapy to treat genetically high cholesterol. Out of 22 athletes, only three were able to tolerate the first statin they were prescribed. Three more were able to eventually tolerate a statin other than the first one prescribed. The remaining 16 — 72% of the total — ended up refusing statin therapy. You can probably guess what it was about statins that most of the athletes couldn't tolerate: muscle pain and muscle weakness.

The authors noted that in reviews of multiple clinical trials, muscle problems were reported in 5% of those taking statins on average. They also noted that in a study of statin-takers who engage in strenuous exercise, muscle problems affected closer to 25%. Now in this study we’ve got 72% of professional athletes (in an admittedly small sample size) saying they can’t tolerate statins of any kind because of muscle problems, with 86% percent unable to tolerate the first statin prescribed.

westonaprice.org/modern...

westonaprice.org/modern...

(Scroll down to 'FH not as dangerous as you may think')

Were I diagnosed with FH T2 at say age 30 I would not start taking a powerful and controversial drug as a first line of defence if returning to our ancestral diets, abandoned in the not too distant past, might just do the trick. After all, tinkering with my diet for 6 months is hardly going to kill me. I would do a huge amount of research bearing in mind that heart disease was largely unknown before 1921; and that included the 1/500 that had FH then.

“I began my practice as a cardiologist in 1921 and I never saw a

Myocardial Infarction patient until 1928. Back in the MI free

days before 1920, the fats were butter and lard and I think that we

would all benefit from the kind of diet that we had at a time when

no one had ever heard the words corn oil.”

Dr. Dudley White

fda.gov/downloads/Drugs...

(read very carefully last paragraph page 1, second to last sentence).

The road to perfect health is not strewn with statins nor any other medication, nor is a lack of medication the cause of disease (rather the reverse).

If your position is ‘Yeah, the usual suspects’, well yes of course they are a source given that I’m looking for the alternative to the current paradigm.

If therefore at sometime in the future it is firmly established that elevated cholesterol (or however you wish to describe it) is not the cause of heart disease then premature death from those diagnosed with the condition FH has to have another cause.

If you have elevated blood sugar most of the time by consuming processed carbohydrate I would suggest that is the root cause of …both in the general population and in those with FH

The bottom line for me is that sugar (and of course chronically elevated insulin) whether added or in ‘heart healthy’ pasta, potato, rice, bread is the cause of the obesity, diabetes etc epidemic, no question, but unless we lose the fear of saturated, rather than poly/mono/trans (remember ‘heart healthy’ trans fat?) then you will be condemned to filling the energy gap with the foods that are causing the problems. Fortunately the tide is turning and the public are getting the message. Sadly the powers that be are still dragging their heels.

“A fifteen-year study of 7,038 French policemen in Paris

reported that ‘The earliest marker of a higher risk of coronary

heart disease mortality is an elevation of serum insulin level.’

A study of middle-aged non-diabetic women at the University of

Pittsburgh showed an increasing risk of heart disease as serum

insulin levels increased. My personal experience with diabetic

patients is very simple. When we reduce dietary carbohydrate,

blood sugars improved dramatically. After about two months of

improved blood sugars, we repeat our studies of lipid profiles and

thrombotic risk factors. In the great majority of cases, I see

normalisation or improvement. If your physician finds all of this

hard to believe, he or she might benefit from reading the

seventy articles and abstracts on the subject contained in the

proceedings of the fifteenth International Diabetes Foundation

Satellite Symposium on ‘Diabetes and Macrovascular

Complications, Diabetes 45, Supplement 3, July 1996.”

Richard K. Bernstein, M.D.

Author of “Diabetes Solution”

In closing here’s a link to a site treating epileptic children with diet, one completely at odds with dietary advice, yet proven beyond doubt to benefit people who’s condition cannot be treated with conventional epileptic drugs.

site.matthewsfriends.org/in...

Teeth and Sugar

40% of men presenting to recruitment offices were turned back as unfit. Teeth were a major reason for rejection. By the end of Boer war 6% were rejected.

This was principally due to the huge increase in sugar consumption

rpharms.com/museum-pdfs/den...

Recruits in the American Civil war were rejected if they did not have at least four front teeth. Canines or incisors were needed to tear open ubiquitous Mini ball cartridges and the term 4-F is used to this day.

ADHD and sugar Perlmutter

drperlmutter.com/scientists...

10 Replies

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  • As always Mike, you have posted some (presumably) thought provoking facts. Sorry have not read right through, maybe when I have the time and inclination to do so. In the meantime, I know that my paternal grandmother died around sixty years of age and, of her six children, five died young. One of my uncles - a tall, fit, healthy-looking man with three children - dropped dead of a heart attack aged 43. My father - also a fit and apparently healthy man - died of a heart attack aged 53. His twin sister died of a heart attack aged 60. Two of his other brothers died prematurely - one of a heart attack and one a stroke. With that history (typical of families carrying the faulty gene for F.H.), when I was discovered to have severely raised cholesterol levels, I agreed to take cholesterol lowering drugs initially. Once they had reduced my levels considerably, I too tried to regulate my levels by changing my diet and lifestyle. Despite all, the rise was slow but sure so, once I passed the menopause, I commenced on statins. Ten years later, I have passed the age at which all my paternal relatives had died, and feel like I could go on for another twenty or thirty.

    So, whatever the experts say, I believe it is my life and my choice. I will continue to respect other people's points of view and try any foods or natural remedies for a period to give them a chance to work. As top so-called-experts differ on their findings, I take all their reports with a pinch of salt and, on the understanding that all our bodies are different and react in different ways, I try to discover what works for my body.

  • There undoubtedly are people with FH at higher risk than normal of heart disease and life style interventions will not help them enough - they need treatment.

    I'd also disagree with you on the 'dutch family tree' study Mike. It shows the peak of premature death between 1930 and the 1960s. This wouldn't be down to diet as diets have got much worse since the 1960's. My guess is quite simply that this was the period in history when smoking was at its peak in the general population. By the 60's we were starting to realise the dangers of smoking and people were starting to give up.

    The problem with FH treatment at the moment though is because statins are cheap and described as 'safe and well tolerated', medics think there is no harm in providing precautionary treatment with a statin to anyone who MIGHT be at risk, even if they aren't.

    But there is in my view - first of all statins do have adverse effects and carry health warnings in North America about diabetes risk and other effects. They are still an appropriate treatment for people who are genuinely at high risk of heart disease and those people would be advised to at least try them to see if they are ok with statins - a lot of people are fine on statins because we're all different.

    But we shouldn't be pushing statins as a first resort and we shouldn't be handing them out like sweeties to currently healthy people who aren't at high risk, because they can actually make those people ill! We should be prescribing smoking cessation, a healthy diet and exercise for those people. Exercise is the most important thing you can do for your heart health.

    And the other point that is being ignored is the mental health effects of telling someone they're at high risk of heart disease if they're not. Anxiety and depression are life destroying conditions and the medical profession shouldn't be careless about inducing them.

  • Mike,

    Thank you. Will read all the information in the links in you post.

    Medical people do get it wrong, this comes up in family discussion at times!

    At the end of the day we take what is necessary in the given guide lines and take any decision that is best for us.

    I do not know why, Heart UK specialists do not comment?

    Keep it simple.

  • The links are broken and I have not time to track them all down today, so let's respond to what's written above:

    "Let’s assume for now that I have been diagnosed with the less serious version of FH and have been offered statin treatment as a first line of defence. Now, given my stance on the role of diet and medication this would not be the road I would go down initially, given that I had been living with the condition for say 30 years;"

    I felt this hypothesis lost touch with reality at the point it suggested statins were a first line of defence.

    The first line of defence outlined by the current NICE clinical guidelines cks.nice.org.uk/hypercholes... is dealing with other risk factors such as smoking, high blood pressure, obesity, alcohol consumption, diabetes and some other things. The second line is further dietary modification (the specifics of which some on this site do not agree with). After diagnostic tests, statins are a third line for most with FH (for others, it is sequestrants).

    While it may make more dramatic reading to suggest that everyone is rushing to prescribe statins to bolster the profits of Big Pharma, that should not be the case for FH. If it is, it's time to change doctor to one who is up to date with NICE advice.

    "high cholesterol cannot possibly be the cause of FH" - well no, but who says it is? Is that a strawman? As I understand it, the hypothesis is that the high cholesterol is a causal link that does whatever damage makes FH sufferers disproportionately susceptible to heart attacks, so treating the high cholesterol prevents it.

    The core problem is that we know the causal step before that is the liver failing to remove LDL as expected and that seems to be caused primarily by genetics and we don't yet know how to treat it. We've known for 30ish years that some people respond to dietary changes, which is why they're tried before statins. So this seems to be basically arguing that government advice is correct in that regard!

    More interesting questions are: what are the diets with the best chance of success and what do we do for people who don't respond to dietary changes?

    The claim about athletes is interesting and new to me. Certainly my adverse reactions to statins have increased as my exercise has increased, although my cholesterol levels were falling too. The source is onlinelibrary.wiley.com/doi... and I'm still digging through the papers that it is cited by to see if any suggest interesting actions.

    "though if it were demonstrated to be my only option then I would accept it and get on with my life" - if you have none of the other risk factors or they are treated and diet has not brought about the chance, would you really accept it, or would you keep looking, as I do?

  • Hi, you're reading the wrong guidelines.

    The guidelines for familial hypercholesterolemia are NICE CG71. They're different from the guidelines on lipid modification generally.

    They state quite categorically that all FH patients should be offered a statin, and lifestyle measures alone should not be recommended.

    nice.org.uk/guidance/cg71

  • CKS is much more current than CG. Both our links are specific to FH. Things have moved on between 2008 (CG last update) and 2015 (CKS last update).

  • The CKS is the clinical knowledge summary. It's not the current guideline.

  • It's a guide on doctors on how to treat patients, and the guidance on lipid modification is further down. However it quite clearly still says that statins should be prescribed.

    It only says 'if appropriate prescribe a lipid modifying drug' because some patients (eg pregnant women) can't use statins.

  • At least the CKS is current. The CG is marked as not current and overdue an update!

  • What is the bottom line?

    How can we get better understanding of cholesterol medication?

    Do we need to reduce cholesterol to enjoy life?

    Who is there to give us there answers.?

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