Genetic testing for Familial Hypercholesterolaemia

[Honeycomb]

Not sure if posting in the right place! I was wondering if anyone had personal experience of or information regarding the genetic condition Familial Hypercholesterolaemia . I was told that it’s very likely that I am affected by Familial Hypercholesterolaemia and been offered genetic testing. I haven’t yet gone through with it. I am torn between various views such as “best not to know”, “what is it going to change?” and “nothing to lose in knowing” “it will provide some answers” ...

Also, I am struggling to find information - which is not doctor/conventional medicine - on this inherited issue. I don’t think Ray Peat has written or talked about it. At least I cannot find anything. I am hoping someone will point me in the right direction so I can make more informed choices.
Does anyone know of a natural treatment, supplements, anything Peat-friendly which could help lower the extremely high LDL cholesterol brought by Familial Hypercholesterolaemia? From what I have read, and it makes for a bit of depressing read, the only conventional treatment for someone affected by FH would be statins. I have already told the consultant I saw that I would not be taking them.

Thank you.

 

[Elderflower j58]

SITOSTEROLEMIA

sitosterolemia, an autosomal recessive disorder

After looking at information regarding this plant sterol I am definitely going to try and get the test for this mutant

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic…

www.sciencedirect.com

 

[Elderflower j58]

Abstract​

In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal absorption and decreased biliary excretion of dietary sterols, hypercholesterolemia, and premature coronary atherosclerosis. We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. The two genes are expressed at highest levels in liver and intestine and, in mice, cholesterol feeding up-regulates expressions of both genes. These data suggest that ABCG5 and ABCG8 normally cooperate to limit intestinal absorption and to promote biliary excretion of sterols, and that mutated forms of these transporters predispose to sterol accumulation and atherosclerosis.


From what I gather this test is not included in the normal genetic testing of FH

 

[Elderflower j58]

@Honeycomb​

This is new information for me I have never heard of Sistosterolemia before
Even though it' Ties in perfectly with ray Peat's 40 years or more Of warning people about the dangers of seed oils.

If you have this diagnosis
You can be put in a much more deadly position ,I'm sure it's only a very small amount of people in the population Or they don't even know Because they Don't bother to research And everything high cholesterol or familial hypercholesterol
Is completely blamed on saturated fat whpen in fact They recommend highly the very ingredients that People diagnosed with sitosterilemia Should run a mile from.
The reason I want this test I had early onset heart disease 8 stents 2 heart attacks quadruple heart surgery.
My daughter 36 years of age has 2 very big patches of cholesterol on her eyes.

As we all know pufa is in absolutely everything we cannot get away from it
I am also not sure if it is just pufa or vegetables of different kinds so bloody confused

 

[Michael Mohn]

What would change if you were diagnosed with a genetic condition? Would you not try to lower your cholesterol with dietary measures? Reducing fat intake, eating a carrot salad, trying some thyroid can be very helpful with normalizing cholesterol levels.

 

[Honeycomb]

@Honeycomb​

This is new information for me I have never heard of Sistosterolemia before
Even though it' Ties in perfectly with ray Peat's 40 years or more Of warning people about the dangers of seed oils.

If you have this diagnosis
You can be put in a much more deadly position ,I'm sure it's only a very small amount of people in the population Or they don't even know Because they Don't bother to research And everything high cholesterol or familial hypercholesterol
Is completely blamed on saturated fat whpen in fact They recommend highly the very ingredients that People diagnosed with sitosterilemia Should run a mile from.
The reason I want this test I had early onset heart disease 8 stents 2 heart attacks quadruple heart surgery.
My daughter 36 years of age has 2 very big patches of cholesterol on her eyes.

As we all know pufa is in absolutely everything we cannot get away from it
I am also not sure if it is just pufa or vegetables of different kinds so bloody confused

I have never heard of sistosterolemia. I have now read a little on it. Woah! Plant sterols!! The very thing many people with high cholesterol would be advised to consume!! It’s crazy. Shellfish sterols may also be involved for some. Are you and your daughter going to get tested for it? I declined the genetic testing for FH by the way.

 

[Elderflower j58]

@Honeycomb
I Had my lipids clinic appointment in early February this year numbers are still sky high.
I asked her about this fake cholesterol which I absolutely believe is true because the body can not assimilate it.
She just said it was extremely rare and I did not need the test even though it's not included in the genetic genetic testing for
FH.
I pushed further and said that years ago I Used polyunsaturated oil liberally (which is absolutely true)because we were told it was completely healthy and that saturated fat was deadly
especially for heart disease.
I kept pushing as she did not seem interested at all so I asked her to write on my reports that I asked for this test and she refused.
This slightly got her interest then I lied about Not using any vegetable oils now because I felt if I told her this she would not give me the tests.

She said something really odd about having to go to Amsterdam for this test which I don't believe but for my nextt appointment she would consult with somebody and tell them I really wanted this test.
I have since done more research on this and it looks like it's not as rare as they originally thought And there can be a big mix up with sitosterolemia and FH.

 

[Elderflower j58]

View: https://youtu.be/AshAe96kGnU


Very short video could be doctor Raymond Pete's talking

 

[Elderflower j58]

DR PEAT RIGHT AGAIN.......PUFA REALLY BAD FOR EVERYONE BUT IF YOU HAVE SITOSTEROLEMIA ....DELETERIOUS MUCH EARLIER.