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Premature Coronary Artery Disease and Familial Hypercholesterolemia
Information last reviewed: January 2013

The heart muscle requires a regular supply of oxygen and food. This is supplied by blood carried by a network of blood vessels known as the coronary arteries.

The coronary arteries can become narrowed by ‘furring’ of the artery wall with cholesterol, called atherosclerotic plaques. Blood clots can form on these plaques and block the artery, causing chest pains. The heart muscle supplied by the blocked artery is starved of oxygen and dies soon afterwards, known as a heart attack. This can also cause dangerous arrhythmias.

The build-up of plaques in the coronary arteries increases with age and most people who have significant narrowing are usually over 50 years of age.


There is a genetic risk for the development of coronary artery disease, but many factors are involved, including smoking, high blood pressure, diabetes and cholesterol levels.

 

Some families, however, carry gene mutations that make them likely to have a very high cholesterol levels. This is known as familial hypercholesterolemia or FH. Families affected usually have members who have suffered from heart attacks, sometimes at very young ages.
 

 

What are the symptoms?

 

A person with narrowed arteries may experience heavy or tight chest pain - called angina - or breathlessness, most commonly during exertion, as a warning. A person who has FH may develop fatty lumps in the skin around the eyes or in the muscle tendons, but, usually, the only way of telling is to have a blood test.

 

 

How is it diagnosed?

 

An ECG at rest will often be normal. An exercise ECG may show signs that the heart is being starved of oxygen. Depending on how high the doctor thinks the risk of having narrowed coronary arteries is, a range of different tests may also be offered, such as an ECHO during exercise, a special MRI scan or a CT scan of the coronary arteries. If the doctor thinks risk is high then a coronary angiography may be offered to diagnose the condition.

 

 

Treatment and advice

 

Anyone with coronary artery disease should receive advice on lifestyle - including stopping smoking, a healthy diet and regular exercise. If cholesterol levels are high they can be treated with tablets, known as statins, to reduce the risk of further artery furring. Tablets can also treat symptoms of chest pain and reduce the chance of a heart attack.

 

If an angiogram suggests a very tight narrowing in one of the coronary arteries then a catheter can be used to open up the narrowing by blowing up a balloon at the narrowing (known as angioplasty) and inserting a metal tube (stent) to keep the artery open. If an angiogram shows more severe furring, especially if both the right and the left coronary arteries are affected, then a bypass operation may be required to improve the blood supply to the heart.

 

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