Dr John Beaney

MB BS.  LRCP  MRCS (Retd)

www.johnbeaney.com.au                     

Familial Hypercholesterolaemia (FH).


FH is a common inherited condition affecting about 1:300 to a varying degree. Diagnosing this condition is beyond the scope of this article. Your medical adviser is charged with the responsibility of providing medical advice and treatment. This short article is intended as a supplement to good medical advice, not a replacement. Unfortunately, getting good advice about this condition is not easy.


Some people are born with Familial hypercholesterolaemia. There are two main problems.


1. An inherited tendency for the blood to clot. This leads to heart attacks and strokes.
2. an inherited lack of receptors in the liver to reabsorb LDL, the ‘trucks” that carry fat and cholesterol round the body in the blood stream. This results in high LDL levels in the blood.


Number 1 is not easy to remedy and has been largely ignored by the medical profession. However, the existence of an easy blood test for cholesterol and the introduction of a group of drugs called statins in 1988, provided an opportunity for the pharmaceutical industry to focus on Number 2.


LDL particles, I call them trucks, made in the liver, spend their life travelling round the body transporting fat and cholesterol from where it is created (the liver), to where it is stored (mainly the fat stores) and then to where it is required (every cell needs fat and cholesterol). When its brief life is over, the old LDL is supposed to return to the liver to be broken down and new LDL is created. In Familial Hypercholesterolaemia, the ability of the liver to take up the old LDL is reduced, sometimes severely. This leads to a build-up of LDL in the blood stream. Within the LDL truck is its cargo of fat and cholesterol.


High cholesterol in the blood is, therefore, the result, not the cause. Even the name Familial Hypercholesterolaemia is a misnomer. It would be more correct to call it “low LDL receptor disease”, but it’s not a catchy name.


In the FH population, the real focus should be on Number 1, the tendency of the blood to clot. Not all sufferers from FH have this problem and they live long lives despite their high cholesterol and LDL levels. There is good evidence that high cholesterol and LDL levels correlate positively with longevity.


FH is just one of many causes of inflammation and clotting in the blood vessels that can lead to early heart attacks and strokes. Smoking tobacco is the most obvious cause. Less well recognised is the role of processed carbohydrates, sugar and flour, which cause both inflammation in the blood stream and increased clotting, as well as leading to type 2 diabetes, obesity and other manifestations of the metabolic syndrome all of which greatly increase the risk of heart attacks and stroke.


Elimination, as far as possible of these carbohydrates from the diet is highly beneficial for those with FH. Statins do have a minor anti-inflammatory action which explains the limited benefits from the use of this drug. Unfortunately, statins also have significant side-effects which may be quite disabling.


Dietary intervention is the primary treatment for FH, but sadly, you are most unlikely to hear that from your medical advisers.