Familial Hypercholesterolemia


(Jonathan Brady) #21

Ah! Good to know! I guess my ratio is about 1.23 or almost exactly 5:4 which is, as you said, very good! So, I’m happy!
When I received these results, because of my LDL, I opted into a heart score CT scan and that came back with a score of 0 which means no calcium buildup at all. So that was additional comfort for me. So that coupled with the information you provided and the quick research I did online based on your information, I now feel like I do not need to worry about my LDL cholesterol anymore whereas before it was literally a daily worry of mine. So, thank you so much! I will keep on doing what I’ve been doing and live a worry-free life with regards to LDL :slight_smile:

(A fool and his bacon are soon parted) #22

Good for you! Glad to be of help. Here’s some virtual bacon to improve your lipid panel even further, lol: :bacon::bacon:

(Mary ) #23

Hi Richard,
Please research this topic for us. I would appreciate learning more about it since my doctor recently advised me my lipid panel results “may indicate FH”. Thank you.

(A fool and his bacon are soon parted) #24

Here is a talk by David Diamond in which familial hypercholesterolemia features prominently:

He starts discussing familial hypercholesterolemia around 24:15.


Hi, I’m an adolescent female using a ketogenic diet to minimise my potentially increased risk of CVD due to FH (total cholesterol 386, LDL 235, HDL 100 - super high, and triglycerides 111). I’ve already watched/read/listened to everything referenced above + more (surprisingly easy even as a teenager when you have an interest in science and optimising your health) and I agree with the conclusion that a ketogenic diet is likely a useful tool for lowering a potentially increased CVD risk from genetically elevated LDL. I say potentially increased risk as it appears roughly 50% of people with FH remain CVD-free, live healthy lives and may even have a reduced risk of developing some cancers and T2 diabetes, as well as succumbing from infections.
I haven’t had my lipid panel redone since my diet was changed, but hopefully it’ll be repeated in the next couple of months and I can update you on how this diet has affected things? If you have any specific questions for an adolescent on a ketogenic diet with FH, please feel free to ask me.


Oh and I forgot to say, I suspect that at least adopting a lowered carbohydrate diet and minimising polyunsaturated fat intake, along with sensible recommendations like not smoking, excessively drinking, no drug use and making sure that you engage in regular exercise is even more important for people with FH.
This is quite interesting https://benthamopen.com/contents/pdf/TOATHERTJ/TOATHERTJ-5-13.pdf
And this, although the paper was published some years ago http://m.jbc.org/content/272/34/20963.full.html

(A fool and his bacon are soon parted) #27

Thinking about Diamond’s assertion that the people with FH who are at risk are the ones with alleles in certain genes that enhance blood-clotting, have you thought about genetic testing, to see if you have any of those mutations? I couldn’t tell you which genes would be the ones to look at, but perhaps the folks at one of the genetic testing services or at one of the analysis sites could tell you.


Haha, sorry I literally just asked you this same question on another thread. Don’t worry about replying to that as you just answered my question.

(A fool and his bacon are soon parted) #29

I posted some studies indicating specific clotting factors on the other thread. Might help to know what to look for.

(KCKO, KCFO) #30

Have you considered having DNA genetic testing done? Some genes respond very poorly to statins, others statins will be utilized correctly. If it were my child, I would find out if she will be able to tolerate them well or not, then go to the dr. with that knowledge and make a choice. She is young and can heal a lot of things.

Also Dr. Cate Shanahan has a book out called Deep Nutrition and she covers the topic of over coming genes etc. in depth. You might want to give it a read. Not a quick read but a lot of knowledge is in it.

Changing a teens diet is almost impossible, good luck with that.

(Angie Cummings) #31

Thanks for bringing that up. I hadn’t really thought of her not responding to the statins because her father responds to them quite well (at least as far as doctors who want his LDL to be down think). Do you have any recommendations of what company to use for genetic testing? What specific things should I look for in the test results?

We are slowing try to push her towards at least a lower carb diet and so far she is actually doing well with that. She refuses to admit that her acne that has gone away and the weight that she has lost has anything to do with the changes in the way I feed her at home but that is teenagers for you.

(Angie Cummings) #32

Thank you for sharing your info. and for opening yourself up for questions. One question I do have is: How were you convinced to try to a ketogenic diet? Do you have parents or relatives that are following it as well or was it based on your own research? Obviously, I think it would be healthy for my daughter to follow this WOE but I feel that somewhat she is old enough that she needs to come to it on her own for her to really see the benefits and be willing to say no to the sugar when she is not with us. I have a feeling a lot of that realization will come with maturity that you already seem to have and that I need to just try to set a good example and make sure I’m providing her with meals that are at least low carb at home. If you have any suggestions on how to convince her without pushing (I worry pushing will just turn her off more) I would love to hear them.

(KCKO, KCFO) #33

I did mine DIY, used my Ancestry DNA test, download the file and upload it to a couple of sites, I prefer
Dr. Rhonda Partick’s site because the report is so comprehensive and has links to studies that back up the comments. Her team has done all the cross referencing for you and it is easy to understand. (Promethease is where I started but I was getting lost in it ) It costs $10. You can also go to a genetic specialist at better hospitals and get a very expensive DNA test that will tell you about the same things, maybe slightly more, but certainly not hundreds of dollars more of information. If you have another child, you might want to go that route, but now that your child is fully developed, just testing her genes is the way to go. IMHO. I am not a dr. etc. usual disclaimer :slight_smile:

(Diane) #34

Thanks for sharing this link. Just got my report and am comparing it to the one I got from Dr. Lynch’s site. It seems to have more specific information regarding implications for supplementation. Since I’m very sensitive to medications and supplements, this should be very helpful. I’m also in the process of trying to find a functional medicine physician, this could be helpful with that consultation as well.


(Angie Cummings) #35

Thanks for the info. I really appreciate you taking the time. My daughter has wanted to get her DNA testing done anyhow so now we have some more justification for the cost. :slight_smile:

(Kristin) #36

I’ve used her site and agree it was helpful. I also got an hour session with Dr Anthony Jay which was fantastic. I highly recommend him. https://www.ajconsultingcompany.com

(Mel Day) #37

I’m new here but not new to this lifestyle. I’ve been a Keto convert for 3 plus years and in the process become a hobbyist spelunker of any rabbit holes that beckon (and there are so many once you realize how often conventional medicine fails). My latest AHA moment followed receiving my husband and I receiving our 23 and Me results. That’s when I discovered Debbie Moon. The information on genetics she freely shares is rocking my world. Just one item: My husband has long been diagnosed with Familiar Hypercholesterolemia. Well I’ve checked all applicable SNPs and my husband has none. Here’s the link. Happy Hunting! https://www.geneticlifehacks.com/heart-disease/