Friday, 24 April 2015

Familial hypercholesterolaemia. It's so hot right now.

It seems to be doing the rounds at all the cool kids' blogs right now. See Hyperlipid (who covered it well so many years ago) and the Fat Emperor for the smart stuff. I am so not cool, but have a plethora of FH research papers bouncing around on my hard drive. Unfortunately that doesn't always mean I get around to reading them. 

This post is simply the first of probably many where I dump some I have close to hand. If I don't put them on virtual paper soon, I'm going to lose track of them all.
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Barros et al - a recent one from 2014 that describes the case of a 46 year old Brazilian man with FH, including significant xanthoma on his heels, elbows, achilles and the soles of his feet.

He didn't smoke, have diabetes or high blood pressure and his LDL-C and HDL-C were 545 and 53 mg/dL respectively. Fasting glucose and triglyceride were 85 and 158 mg/dL.


His carotid arteries were not happy, and narrowing significantly, so they put a a few stents in and all was sweet. Of course it should go without saying that "A low-cholesterol diet was immediately recommended to the patient, and clinical treatment with statins was initiated."

The interesting thing about this case was that his heart and his coronary arteries were in tip-top shape. 

"Meanwhile, the cardiac evaluation test results were normal; the aorta showed no atherosclerotic changes. In addition, the patient’s medical history showed no signs of significant obstruction in the coronary arteries."

I don't know why his body decided to dump all the hate in one area and leave his heart alone, but 46 years with LDL-C of 500+ raises some interesting questions for the heart healthy crew. 

Maybe they accidentally swapped his coronary test results with those of a vegan.
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Barros mentions another similar case from Palacio et al.(reference 20), which I couldn't find online, where a 3 year old (genetically confirmed) homozygous girl who had a normal aortic valve, no calcification, and normal coronary arteries, "despite carotid intimal thickening and plaques"
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I couldn't get my hands on the full text of this one, and it doesn't sound very interesting anyway, but this quote from the abstract made me laugh:

"At the time of examination, 667 of these adults with familial hypercholesterolaemia (39%) received some form of lipid-lowering treatment; 1 year later, this percentage had increased to 93%."

And the remaining 7% had a death wish??? ha ha. Good on 'em. 
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I can't remember where I found this one, so I'm most likely forgetting to thank someone for the heads up, but it's written by the Steering Committee of the Simon Broome Register Group. The Register is based in the UK and they follow lots of FH people around to see if they're still alive.

I guess it was a sign of the times (1980s) that they defined FH as someone with TC of greater than 7.5 mmol/L or LDL-C of more than 4.9 plus xanthoma. Chances are, not all subjects had dodgy LDL receptors.

"A striking finding was the reduced relative risk of death from coronary heart disease with increasing age. Patients who survived through middle age seemed no longer to be at a substantially increased risk of coronary heart disease."

While that is interesting, to me the key observation was - "a family history of premature myocardial infarction was less common in the older age group."

Which reminded me of an old Hyperlipid post on heterozygous survival, where he was looking at a this paper

What Peter wrote stuck in my head, and it's why I remember it now - "In families with FH and premature heart disease there is premature heart disease. Yes, that's what it says."

But of course it must be the lipids. 

That'll do for today. Reading is nice, but I think I'd rather be fishing.


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