Recently diagnosed with genetic mutation, can keto help?


(Sam Cobb) #1

First, I just want to say thank you for creating such a great resource and community. I have to admit, I’m a long time lurker and first time poster.

I actually began my keto journey about ten months ago. As I was researching the ketogenic diet, I stumbled upon the 2 Keto Dudes podcast and consumed it like crazy. Carl and Richard were entertaining to listen to, but also presented truth backed with science, which I loved!

I started living the keto lifestyle and lost roughly 30 lbs in 3 months, and weight loss wasn’t even a goal! I began noticing major upswings in energy and thinking clarity as well which was encouraging.

However, I’ve had some recent health developments and I’m hoping this forum can point me in the right direction. I actually started keto around late April of last year due to some cholesterol issues I was having. I wasn’t completely sure if the low carb/high fat diet would help my situation, but I absolutely didn’t want to start on statins.

Fast forward to today and it’s been confirmed that my issue is actually a genetic mutation of the PCSK9 gene, which is affecting my lipid receptors. My cholesterol numbers in January were: LDL 286; HDL 63; TRI 64; Total 362.

I just had a meeting with a cardiologist last week and she has started me on an aggressive dosage of statins and baby aspirin. I am very unsettled about all of this because I view statins as poison and have seen its long term effects in the lives of my own family members, but I’m not sure what else I can do.

In our meeting, I told her that I’ve been keto for about 10 months but it didn’t seem to phase her because what I am dealing with is a genetic problem, not a dietary problem. However, I have a feeling that in the near future she may want to address my diet. Before we have that discussion, I would like to settle my own convictions about staying low carb or not with my current diagnosis, but I don’t know if there is any evidence that being low carb with an issue like mine has proved to be beneficial.

Are there any study materials exist that could help me? My personal preference is to stay low carb, but if another lifestyle would be more helpful, I am open to it. Until then, my mentality is to, “Keep calm and Keto on!” :smile:

Thank you in advance for your help and again I can’t thank you enough for creating such a rich resource of both information and community!

(Bob M) #2

You have familial hypercholesterolemia, if you want to google it. Stay low carb. Here’s a study about this:

This paper is about a theory that it’s not the cholesterol that’s an issue, but an error in coagulation. I would look in this vein.

You want to keep inflammation low (no PUFAs, low carb). You could try an aspirin, but the data on it is not great (side effects outweigh benefits).

(Khara) #3

Dave mostly researches cholesterol in relation to low carb lifestyle but I know he has touched on genetic aspects a little bit as well. Maybe there is something helpful for you there…

(Carl Keller) #4

Here’s a great video that talks about the cholesterol theory (and how it’s wrong) as well as how the benefit of statins is greatly exaggerated and does not outweigh the side effects.

(Khara) #5

Oh ya. Forgot about that one! It’s another really great cholesterol topic resource.

(Old Baconian) #6

Your doctor is behind the times. With a ratio of 64 trigs to 63 HDL, you have a very low risk of cardiovascular disease, and if she were to order an NMR of your LDL, it would turn out to be pattern A, the healthy kind. All this, assuming you even believe in the lipid hypothesis in the first place.

We have known since the early 1960’s that it is not the cholesterol count that causes heart disease in people with familial hypercholesterolemia. Fully 50% of you folks never develop heart disease and live to perfectly normal old age and die of other causes. The people with FH who have heart attacks all have clotting abnormalities—genetic variants of fibrinogen and clotting factor VIII that make their blood clot much more readily.

The good news is that a ketogenic diet, by reducing serum glucose to the minimum keeps the glycation of hemoglobin to a minimum as well, thus reducing at least one of your risks of developing a clot. We can’t do much about our genetics, but we can eat in a way that promotes health rather than destroying it.

BTW, your doctor has to advise you to take a statin, because otherwise she’s vulnerable to losing her medical license for failing to follow the standard of care. You, however, cannot be forced to take it.

Knowing what I now know about statins, I’ve made up my mind that I can’t afford the cognitive decline, the muscle pain, or the diabetes, so statins are clearly not for me.

(Jay Patten) #7

Wait, wait, wait! Did they retest to confirm these numbers?!

Always do the test twice when numbers are high.

This same thing happened to me.

It was a lab error.

(Sam Cobb) #8

Thanks for the study, Bob. I’ll give it a look.

(Sam Cobb) #9

Paul, this is extremely encouraging. I started Keto because I’m convinced it is the right way to go for a number of reasons. I too thought my HDL/TRIG ratio looked really good, but my doc was so focused on my LDL she didn’t comment on it at all. I will continue to study the research and as humbly as I can present it to my doc to see what she says.

Thank you!

(Sam Cobb) #10

No retest, but I’ve been having my numbers checked every three months and over the last year they have been consistently rising. However, I do think an NMR would help paint a more accurate picture.

(Old Baconian) #11

If you feel you need to manipulate the numbers, some people can do that by eating a certain way the week before the test. Also, be sure to fast for 12-14 hours before the blood draw and don’t drink any coffee till afterward. Check out Dave Feldman’s site: for information on using his protocol. Ivor Cummin also has great information at

(Linda Rose) #12

Have you had a chance to read the article by Nicholas g norwitz in the frontiers in medicine website.? The name of the paper is a standard lipid panel is insufficient for the care of a patient on a high fat, low carbohydrate ketogenic diet. I do not have a link for it but I have made a few copies to give to my doctor’s when I visit with them. One of my doctors turned it down of course saying that they knew all about it and they weren’t interested. You’ll just have to type into Google the long title and it will take you to the website.

(bulkbiker) #13

Here you go