Heterozygous Familial Hypercholesterolemia

Pharma
1

Hey guys,

it’s now pretty clear that I have HeFH. Since 50% of people with HeFH get their first myocardial infarction under 60 years old, I am inclined to do something about it rather sooner than later.

Cholesterol readings are always between 200 and 250 no matter my weight or diet (normal range until 190 mg/dL). During keto at my lowest weight they were highest, at a higher weight but normal hypocaloric diet they were lowest.

This means I need to lower LDL by 5-20% to get into high normal range. This would be possible by not eating any saturated fats anymore whatsoever, by using supplements or by starting medication.

Possible medications would be:

  1. Low dose statins (or red yeast rice) (lowers LDL by 20-50%)
  2. Ezetimib (lowers LDL by 10%)
  3. Bempedoic acid (lowers LDL by 15-25%)
  4. PCSK-9 inhibitors (Not affordable)

Possible supplements are:

  1. Phytosterols (reported to lower LDL by 10-15%)
  2. Omega 3s (lower triglycerides in some studies)
  3. Guar gum (lowers LDL by 10%)
  4. Cholestyramin (lowers LDL by 10-25%)
  5. Niacin (lowers LDL by 15-25%; unpleasant)

I don’t want to take statins as the most common side effect is myalgia, but low doses should be fine, so I’m considering it. Medication and supplements that act on the uptake are just unpleasant af. This leaves only few options of which I’m not really convinced.
Since it’s bulking season, there won’t be an option to not eat at least some fat otherwise I would have to hammer the carbs. In a surplus I don’t think LDL will look better without medication or supplements anyways.

Does one of you guys have an additional idea, like a switch to pea/rice protein powder instead of whey? There’s some studies which show pea protein mediated cholesterol lowering in various animal models.

The second review I linked below postulates that HeFH is not that bad if you are insulin sensitive and won’t lead to worse outcomes.

I know what I would tell a patient if he was asking me this, but it’s different if it’s myself, so I’m looking for a second (third, fourth) opinion. When it’s myself I often don’t regard the risks as high and I don’t like to follow the mainstream. I probably don’t have to tell you how one is more likely to neglect risks when they concern oneself, as I’m in the Pharma section. So what would you tell me?

Any opinions on all this?
@unreal24278 @anon18050987 @blshaw @iron_yuppie @Andrewgen_Receptors @hankthetank89

For future readers sake, some literature worth a read:

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I have no inputs here man, I couldn’t tell you a thing about what this is without a Google search and someone to Neil deGrasse Tyson it down for me.

Happy to follow along and learn; may find time to read into this a bit and see if any conventional wisdom applies to it though.

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Basically it’s one of many mutations of the LDL receptor or another molecule involved in the pathway which leads to cholesterol not being absorbed into cells efficiently. The low density lipoproteins accumulate in the blood stream and lead to plaque formation which lead to early heart attacks. Heterozygous means one allele of the gene is completely functional and the other one isn’t.

There’s various forms of it. Total cholesterol can range from 200-450 mg/dL. So I have a mild case.

If you’re homozygous for the damaged receptor genes then you’re basically fucked and your cholesterol runs into the thousands. Only a combination of high dose statin and PCSK-9 inhibitor will save you from a very early death.

Still thanks for chiming in!

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Okay, so I’m still pretty inexperienced in the realm of LDL and HDL, but of the methods you mentioned to keep LDL in check - I’ve heard that Red Yeast Rice is a godsend. Have you tried using this before? I saw you mentioned that LDL uptake regulators are generally unpleasant to take… I thought Red Yeast Rice was best used in capsule form and had virtually no side effects?

I’m willing to bet that long term medicated solutions would have an equally (if not worse) outcome though… Peptides still seem widely misunderstood, from my limited view of the medical world.

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If it makes you feel any better… both of my parents seem to have it and I seem to have it.

Neither parent has ever had a cardiovascuar event and the one is a smoker (but doesn’t eat badly and maintains a normal weight). They’re both 55+

I forced the one who smokes on statins two years ago by constantly badgering the individual see a doctor, making funeral jokes “this casket looks nice” etc.

I incessantly pressured the other one to go on statins after seeing he/she a total of around 270… but this one parent is a doctor and knew that I was right.

My aunt is on statins (now) but is 70, smoked for 55-60 years and had a total of around 400 apparently… never had a heart attack or stroke. On the other hand my grandfather had a stroke (or brain anyerism) at 49 and died from it yet my one grandmother lived til 98… both had high cholesterol. My other grandma is almost 90 with a total of around 250 (high HDL, HDL and trigs… everythings elevated lol)

I seem to have it too. Total between 195-225, LDL 135-160, HDL 39-45. I take statins now and have like the most optimal looking lipid profile ever

Just take the statins… 5mg rosuvastatin is all it takes for my LDL to drop 50%

Would you rather have LDL of 160 at times… or always 70-85… hmm? Which measurement puts you at east if considering a long term context?

No side effects from the tiny dose I take either. I used to import it myself, but then went in to see my endocrinologist without taking them, explained my dillema re fanily histort and my measurements without statins (visible on the test) and I got a script as evidence clearly rules in favour of someone such as myself using a statin.

@lordgains just take the STATIN DAMMIT

Red yeast rice is just unregulated lovastatin, some products may have no lovastatin and you have the fantastic prospect of citrinin contamination and associated organ damage to look out for.

If you want a mild statin, you can take lovastatin. But why not take a statin like rosuvastatin at 2.5-5mg/day (enough to impart a significant difference)… one where you don’t have to avoid eating grapefruits (best fruit ever and if you disagree we can’t be friends). Could also use pravastatin and not worry about rhabado if you like grapefruit.

A nice pink grapefruit with a nice tablespoon of brown, unrefined sugar

Malva pudding…

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But does it or is it like smoking when it kind of gives you cancer yet everyone smokes around me and no one has it?
My grandmother recently turned 80 and her LDL is 3 times as high as the paper says is within the norm. Her HDL is also abit high tho.

Anyways, in my country they do these tests when they put some color in your blood and then look how it goes through arteries and when there is smth like a blockage they just put in a thingy that makes the artery wider in that place. Thats a 24hour stay at hospital procedure, you leave the next day and move on. Some old farts have done it even up to 7-8 times.

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I can get the lipid panels later. It’s over a 8 year time span and every single time I’ve drawn blood my cholesterol was slightly high. I’ve basically got the same values as unreal had (adapted from unreal):

Glucose always at like 90 and insulin was never measured I believe (does t get done in Germany)

If I go for that, it will be in my medical history and I won’t get insured. I’ve even got problems now to find an insurance while I’m nearly perfectly healthy. So if I’m gonna treat, I’ll have to do it myself without doctor supervision. So no comprehensive blood work for us, I’m sorry.

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The stats say that it’s not like cancer. Cancer is a low percentage chance of getting it even while smoking, while cardiovascular events are rampant with HeFH.

Yes, here as well but that only fixes one artery temporarily.

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In addition to something like red yeast rice or ezetimib to lower LDL you can use citrus bergamot to help raise HDL. I’ve been using it for about a year and my lipids all look a little better than they did prior. Now I was in a healthy range anyway, so the impact from supplements seems to be less dramatic. But it’s cheap, it has some clinical data showing efficacy, and it’s one of those ‘what’s the worst that can happen?’ sort of things.

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Age again? Have you had any diagnostics done other than lab work? When I am in the office on Monday I will post you my before and after statin lipids results with NMR. Statins put my cholesterol in decent shape. I’m still not sure cholesterol is a good indicator however. I’ve had a CAC, stress test, and echo all showing exceedingly normal heart health despite my prior use of AAS and high cholesterol. Age 40 now with no build up or issues.

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Nope

Me neither. I know the literature decently well and even the studies that were used to justify widespread use of statins showed a high number needed to treat. There’s also literature saying that in the absence of metabolic syndrome comorbidities, cholesterol is not the best indicator. Then there’s the study of >180 countries showing an inverse relationship between cholesterol and mortality.

Thanks for chiming in.

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Last time I have labs from, fasting glucose was at 85 (60-100) mg/dL.

Insulin was never measured.

Cholesterol was always between 210 and 245 mg/dL while HDL sits at around 65 mg/dL. Triglycerides were measured only once in the last years and that was after I had breakfast, they were at 147 mg/dL (<150 is ref range).

Other than that all other values were well within range.

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Stents. They do have some drawbacks. In the US the recommendation is to use dual therapy- low dose aspirin and an antiplatlet to prevent the stents themselves from becoming blocked. Thats daily for life.

Theres also the problem of another blockage occuring further down the artery, but the first stent blocks acces to it. (This happened with me.)

There is also risk of hemmorhage and death if they enter through the femoral artery. And there is always a risk of cardiac arrest any time the do anything directly to the heart.

I have 4 of them.

@lordgains I take pravastatin with minimal side effects, but do occasionally get some aching in my spine and calves. It keeps my cholesterol in the so-so range.

I’d say try dietary and supplement strategies before starting a statin, because depending on a whole bunch of stuff- they Can be pretty rough. Figuring out the right one can be tricky.

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I have 1. But i did get both of side effects you mentioned already, lol. Did drop dead when they put it in and then got internal bleeding after the checkup they did :smiley:

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The wife has one about the size of my index finger in her left Transverse Sinus (major vein leading into the brain). She was prescribed Aspirin-Plavix for 6-months following; sounds like you have quite the experience with this as well, she just wasn’t prescribed the anti-platelet for life.

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In Germany, Aspirin is for life only as secondary prevention meaning after a heart attack has occurred and a stent has been implanted.

Aspirin Plavix is done for 12 months after stent implantation, here.

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Yeah, Initial heart attack in June '19. I had two 98% & 99% blockages of the lower right coronary branches and 100% of the circumflex which caused the heart attack, so I take all kinds of crap.

Then the circumflex blocked up to 95% again in December '20, and the surgeon couldnt get past the first stent, but my regular cardiologist got it cleared up & stented in April '21. :+1:

My cholesterol isnt even too bad by the numbers, just the wrong freakin kind.

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Could you post your bloods or some numbers for reference?

How old are you?

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I’m 50 as of May.

I know I have the file somewhere so I’ll see if I can find it, but off the top of my head LDL was around 120, and HDL around 60. :man_shrugging:t2:

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Have you had the genetic test to confirm HeFH? To be honest, it doesn’t seem like you have it just by looking at your numbers. To compare (I have HeFH), my total cholesterol is usually mid to high 300’s, LDL at least mid-200’s. LDL is kind of a worthless number overall. HDL is much more important, and yours looks pretty good actually. Oxidized LDL is what causes plaque; eating good fats, limiting sugar, staying away from omega-6 oils and overly processed food is some of the best ways you can help avoid oxidizing your LDL (along with exercise and getting some good antioxidants).

Your HDl/triglycerides is probably the best predictor of having cardiac issues (the lower the number the better). Niacin also helps (the flushing variety); you may want to research that.