Familial Hypercholesterolaemia

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Regular Member

Date Joined Mar 2010
Total Posts : 204
   Posted 3/25/2010 2:24 PM (GMT -6)   
Hi everyone, I have just hopped over from the GERD board, because I was wondering if anyone here has heard of or experienced the above (FH). My father was diagnosed with FH about 13 years ago, he was 48. He had a heart attack and subsequently had a triple bypass. He is doing well now, apart from some circulatory issues, but here is my problem. His doctor at the time told him that his children need to be tested, as this is hereditary. Of course, I went to my GP with this information, and he promptly told me I was too young to have a cholesterol problem (22 years old at that time), so there was no need for any tests. I accepted this answer, since I knew nothing of the disease. I have not thought about it much since, until recently when I have been having chest pains to the left of my sternum. Last year I was admitted to A&E with the pain, but an ECG showed no problems.

The pains didn't present for quite some time, until recently I have been having it a lot. I put it down to my GERD (which they THINK I have, no diagnosis yet) but after chatting to my dad, found out that he had a family member who died aged 30 while running for a bus, of a heart attack. So I am becoming concerned. I am already being treated like a hypochondriac by my new GP because of the ongoing GERD stuff, so what can I do if she refuses me the tests? She has already refused me a thyroid test, even though my mother is Hypothyroid and I am presenting with symptoms. I honestly think she believes I am a nutcase. I am phoning her for an appointment tomorrow (tried today, couldn't get in) but I am very worried she will say I can't have the test, or she will know nothing about this illness.

Can anyone answer the following questions?

1/ If my pain comes from arterial spasm, or narrowing, would that show on an ECG?]
2/ Would angina show on an ECG?
3/ Can I demand a test for LDLs, even if GP is reluctant?
4/ What can I do to help myself in the meantime?

Many thanks for your help

Liz x

Elite Member

Date Joined Apr 2007
Total Posts : 32602
   Posted 3/25/2010 6:52 PM (GMT -6)   
Dear Liz,

Hello and welcome to the Heart/Cardio Forum. Here is what I know about your topic and please remember I am not a professional.

Cholesterol is one of the body's fats. High cholesterol levels are usually caused by poor diet and lifestyle combined with the way an individual produces cholesterol in their liver.

But for 1 in 500 of the population, a specific genetic defect causes high cholesterol levels in the blood.

People with inherited or familial hypercholesterolaemia (FH) have a lack of low-density lipoprotein receptors that remove cholesterol from the blood.

These people have high cholesterol levels from birth and this leads to an early development of hardening of the arteries and vascular diseases.

Siblings and children of a person with FH have a 50 per cent risk of getting the defect. The disease does not skip generations. This means that children and grandchildren of family members who don't have the defect are not at risk from FH.

On all cells of the body, and mainly in the liver, there is a receptor that allows low-density lipoprotein (LDL) cholesterol to be cleared from the bloodstream.

People with FH have a defect in the gene of this LDL-cholesterol receptor. This causes LDL cholesterol to accumulate in the blood and ultimately in the walls of your arteries.

Of all the different cholesterol particles in your circulation, LDL cholesterol is the most likely to contribute to fatty deposits in your arteries. Hard, narrow arteries can restrict blood flow around your body and to vital organs such as your heart.

The genetic basis for the LDL-cholesterol receptor has been well researched and today we know of more than 300 different gene defects that lead to FH.

I am sorry to hear your new GP is treating you like a hypochondriac ! Very unprofessional IMHO. Perhaps you can find a better physician, one who is willing to develop a trusting relationship with you.

I hope this has helped you in some small way and please know we are here for you !

Gentle Hugs,


Veteran Member

Date Joined Oct 2009
Total Posts : 5029
   Posted 3/31/2010 7:14 PM (GMT -6)   
Liz -
I'm in the same boat as you are: familial high cholesterol.

No, arterial spasm will NOT show on ECG.

I complained for years about chest pain on exertion, nothing showed of ECG, nothing showed on stress test or cardiac ultrasound, not anything on holter monitoring, and then I had a small heart attack. It was triggered by eating a bowl of cereal which started gastric reflux, which triggered tachycardia, which triggered a small plaque rupture and a pinpoint narrowing of a cardiac artery. You can research the phenomenon - cardio-esophageal reflex. I had seen three docs and nobody believed me that something was wrong. That's what I got for being a woman. I was told I was just out of shape, although I do the maintenance for a small summer camp.

When the stent I was given didn't cure my chest pain, and even though I supposedly passed another stress test, I went to another cardiologist and said the magic words: "I think I'm going to have another heart attack." I got another angiogram and needed another stent. Now I feel much better, in that department.

See someone else and keep on insisting.

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