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Family fat

WE all know that heart attacks sometimes run in families. It is generally accepted that one third of the cases are due to genes and two thirds due to the environment for instance, an unhealthy lifestyle which includes a faulty diet, smoking and a lack of exercise.

Studies show that heart attack rates are low in countries like Japan where the diet is low in fat.

When the Japanese migrated to Hawaii and California, however, they became prone to heart attacks. This showed that their former protection against heart attacks was due to the Japanese way of life rather than inheritance.

Among people who live in the same country, there are differences in their rates of cholesterol levels and heart attacks even though their dietary habits do not differ very much.

Recent research indicates a differing susceptibility to the cholesterol-raising effect of the fat and cholesterol in our diets.

The fortunate part is that those who have this inherited susceptibility will also tend to show a large fall in blood cholesterol level when they reduce the amount of fat they eat. These differences reflect the combined effect of many genes of small-effects combined (polygenic).

The family prone to heart attack can also reflect other risk factors such as diabetes mellitus, high blood pressure and obesity which are, in part, inherited.

Familial hypercholesterolaemia

There are a few conditions that cause very high cholesterol as a result of inheriting a single abnormal gene (monogenic). They run strongly in the families and the disease may not be apparent. Hence, cholesterol testing in healthy people may pick up the condition.

One of these conditions is familial hypercholesterolaemia (FH). It occurs in one out of every 400 people in this country.

In the current population of 26 million in Malaysia, it is estimated that there are 65,000 people suffering from FH. Their blood cholesterol is high from birth and is about twice that of a normal individual (8-10 mmol/L). The average cholesterol in a normal Malaysian is 5.2 mmol/L.

Signs

Cholesterol deposits in the skin and tendon

There are tell-tale signs of cholesterol deposits in the skin and tendon known as xanthomas. The tendon behind the ankle (tendo achilles) is thickened.

Less frequently, this pea-shaped swelling over the knuckles is similar to those you find on an individual who practices tae-kwan-do, except that in FH, the overlying skin is normal.

About 50% of FH patients have these signs and the only way to be sure of the diagnosis is to take a blood sample and measure their levels of cholesterol and triglycerides.

Other less reliable signs

Arcus cornealis is a white ring or crescent over the outer part of the cornea of the eye. It is only reliable if the patient is tinder the age of 30 years and does not have a current eye infection.

 

Xanthelasma Palpebrum

These are yellow flat spots on the eyelids. Only 50% of individuals with these spots have high cholesterol.

 

Inheritance

Familial hypercholesterolaemia is a condition that is strongly inherited. One parent is always affected and about half of the offspring will carry the gene and will be affected. Thickened knuckle tendons a sign of familial hypercholesterolaemia.

 

Treatment

Diet

It is important to reduce the intake of cholesterol-rich foods and saturated fats, while consuming foods which inhibit the absorption of cholesterol in the gut.

 

Many people think that going on a cholesterol-free and saturated-free diet is fine. Unfortunately, the liver produces 800mg of cholesterol daily and this is excreted in the bile.

 

About 50% is reabsorbed in the terminal ileum. Foods that inhibit cholesterol absorption such as plant, stanol and sterol and beta-glucan (oat soluble fibre found in oats) can help lower the cholesterol.

 

Taking cereals can replace fat intake and inhibit the absorption of cholesterol from the liver.

 

Drugs

Statin drugs are favoured because they are very effective and produce the least side-effects. Bile acid sequestrants will lower cholesterol by inhibiting the re-absorption by bile acid

 

LDL-C apheresis

LDL-C apheresis is indicated in cases where cholesterol isn't successfully lowered to the target desirable levels despite maximal diet and drug therapy.

     
     

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