Homozygous Familial Hypercholesterolemia

Hello All

My nephew was diagnosed with HoFH a few years back. He is 6 years of age. Currently he is having aphaeresis to lower the levels of his LDLs, which with just medical intervention (statins, ezetimibe) was in the mid-high teens, now is around 5.4 due to aphaeresis . So long term wise this seems an effective course for management until newer drugs are available for more effective treatment.

The issue we are facing is the consultants we are under want the child to have a liver transplant which will in their opinion drastically reduce his levels and keep them that way for decades. Now a liver transplant has its own complications and he will have to be on immunosuppressants for life. HEART uk charity have given their statement with regards to HoFH, and recommend a safer approach with aphaeresis and meds rather than a liver transplant.

I would value any piece of advice and guidance as in what other peoples opinions are.

Regards

13 Replies
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Surgery and physical interventions should always be the last option in treating a patient.

Is the child of normal body weight for his height? Does he have a healthy diet that avoids sugars and simple carbohydrates? Is he active and does he exercise daily?

Diet and lifestyle modification are the most non-invasive and natural approaches to resolving health issues.

If the child does not have normal body weight and does not exercise daily then diet and lifestyle modification should be the first course of action.

The human body requires much more Vitamin C than is ingested in the diet. Supplementing with Vitamin C daily may be beneficial to this child. You can learn more about this here:

practicingmedicinewithoutal...

The medical system is based on 'treatment' not 'prevention'. They are equipped and fully prepared to treat and intervene at all times - but this isn't usually best. Prescription medications and medical interventions are often temporary solutions. The 'cause' rather than the 'symptoms' must be resolved in order to achieve a permanent solution.

For the record, I was diagnosed with FH in 2015 at the age of 52 following triple bypass surgery. I was given statins as well as other medications. Due to side-effects of the statins, I became determined to stop taking them. I changed my diet and lifestyle, lost 40 lbs and by October 2016 I stopped ALL prescription medications. I only take a baby aspirin and vitamins today. My cholesterol levels have completely resolved and are in the optimal range. Clearly, the FH diagnosis was wrong - but that's the problem, doctors have to have some type of diagnosis to describe a problem.

Other than diet and lifestyle, many medical conditions can be caused by sub-optimal levels of vitamins.

I take these supplements:

Vitamin C

Vitamin B3, B6, B9, B12

Vitamin D,

Vitamin E,

Turmeric

CoQ10

Fish oil

Before embarking on a medical intervention with a permanent impact on the child's body and health, I would exhaust all 'natural' alternatives first. He is a minor and will one day look back and wonder if apheresis and a liver transplant were, in fact, his best options at the time.

In hindsight, I should never have had the bypass done since it failed anyway and I ended up with 5 stents instead to temporarily resolve my clogged arteries.

My own natural approach of diet and lifestyle modification has improved my health and my last echocardiogram shows a normal and fully functional heart.

You can read about my journey here:

healthunlocked.com/user/sos007

Good luck to you and your family.

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Another poster to this forum, Bob Axford directed me to this video:

It is a 35 minute video and it specifically addresses children and cholesterol control at somewhere in the 21 to 25 minute mark.

Good luck.

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OK, statin is not a good medication given in the video clip.

What other medication is available for people with heart problem?

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Dietary and lifestyle modification is the optimal way to address cardiovascular disease along with vitamin supplementation.

Niacin and Vitamin C both provide benefits to cardiovascular health as well as other physiological conditions. I have written about both of these in my previous posts on this forum.

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I accept what you are saying, would it be possible to do FABP3 testing in Canada and what is the cost?

found this on the Internet :

"Fatty acid binding protein 3 (fabp3) is associated with insulin, lipids and cardiovascular phenotypes of the metabolic syndrome through epigenetic modifications in a Northern European family population."

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This test is not readily available here. From what I've read, it is very early in the research about the relevance and clinical usefulness of this test.

It relates to metabolic syndrome. Metabolic syndrome is not a disease, it is a condition. Whether it is genetic or environmentally caused appears to be the subject of the investigation.

I would venture to guess that in the vast majority of cases it is environmental, meaning that a person's behaviour is primarily responsible - which boils down to diet and lifestyle again.

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Please have a look at me post what this school boy in India has done!!!!

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I have already read your post. He is an impressive young man. The article stated:

"The innovation may be helpful for “at-risk” people in rural areas to test their heart’s health on their own, and consult a doctor in time."

By 'at risk' I assume they mean people who are visibly overweight especially around the abdomen or have type 2 diabetes.

Its great to identify the risk - the question is will those people make the necessary dietary and lifestyle changes to permanently eliminate their risk?

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Hello guys. Thanks for the replies.

He is currently in hospital having all the tests needed for a liver transplant. His parents having yet decided if that is the way they want to proceed. In himself he is a fit young boy. always playing around, not overweight, good diet (occasional treats) and no major signs of any issues. He has xanthoma around his ankles and knees, and LDLs in the mid teens. Now seems better with aphaeresis at about 6. Aphaeresis seems much less invasive and i think lifestyle changes will go some way but not in this particular case. The question really is wether to continue with aphaeresis or go to the irreversible liver transplant....

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A-Undre,

Sorry to hear of this young boy's situation and of the decisions that his parents are faced with making. I assume he's being seen by cardiologists and liver specialists? If possible, request a second opinion (from specialists with a more progressive, and less invasive, outlook so that you can compare) before a deciding on the liver transplant. I think that under NHS England guidelines the patient can request to see a specialist anywhere in England and, possibly, Europe.

I assume that he has had his thyroid thoroughly checked? Hormones are very much involved with the regulating of cholesterol and lipid levels; too few specialists have expertise in this field (in my opinion).

🖖🏻

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Hello there. Thanks for the reply. He is currently having all sorts of tests done and ill know better after the weekend. I would love to get a second opinion but due to the complexities of the case i don't know where to go! I have asked HEART uk charity and they have advised me that there is no one else to ask with regards to this particular condition.

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Hi A-Undre,

Is he being seen at Gt. Ormond? I can't comment on the advice given to you by Heart UK or by British Heart Foundation. However, I have to say that I didn't find them at all progressive.

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Hello, he is being seen at Royal manchester hospital, with a view for transplantation in Leeds general. Well the only thing we had from Heart UK was a publication in regards to HoFH which stated what was the best route to take. They advised going for most tolerated statins with ezetimibe, in conjunction with aphaeresis. As he gets older then possibly try lomatipide and evolucumab as he hits there respective age criteria

Thanks

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