Friday, February 4, 2011

Familial hypercholesterolaemia (FH)

Schoolgirl dropped dead on sports field after GP missed vital signs of heart condition 


 An 11-year-old schoolgirl who told friends 'Oh God I feel like I'm going to die, I love you all' before she collapsed and died, was suffering from a treatable hereditary disease.Rianna Wingett was suffering from hypercholesterolaemia (FH) - where the body cannot filter out the bad cholesterol causing arteries to narrow.

This brought on a fatal heart attack after she ran two laps of her school's sports field in Hornchurch, Essex.Her mother Amanda was diagnosed with the same cholesterol condition when she was 18-years-old but didn't realise it was hereditary.

Mrs Wingett said: 'I know it's sometimes hard to know your family history but I urge anyone to suspects they have FH to go and get tested.'And any parent with FH must get their children tested as soon as possible.'

The condition is caused by a genetic defect and means the body cannot remove LDL cholesterol leaving suffers susceptible to heart attacks and heart disease due to narrowed arteries.Symptoms of the condition can included fatty skin deposits on the elbows, knees, buttocks, tendons and around the cornea of the eye, and chest pains.
A post mortem examination revealed Rianna had extremely high cholesterol levels of 20 - 30mmol (millimoles per litre) - at 7.5mmol doctors normally put patients on medication because they are deemed to be at high risk of heart attacks.Her arteries had been so badly clogged they were just the size of a pinhole and her heart was struggling to pump blood around her body.

Her mother added she did not realise her daughter, a keen horse rider, had the deadly condition because she was so fit and healthy.

Dr Jonathan Morell, a GP from the Heart UK charity, said: 'It's important not to blame the CP. Ninety-nine percent of doctors wouldn't have picked up on the signs, but that's what we are trying to address.Almost one in 500 people are thought to suffer from the condition and 70 per cent no not have any symptoms. Those with FH can be successfully treated with medication.

Read more:
Familial hypercholesterolaemia (FH)

Inherited risk

Some families have a much stronger inherited risk of developing cardiovascular disease.
This may be because of problems with their heart rhythms, heart muscle function or risk
factors for cardiovascular disease (things that increase your chance of getting heart disease,such as high blood cholesterol). There is treatment for nearly all of these problems.
If you or a family member are diagnosed with cardiovascular disease (such as having had
a heart attack or stroke) before the age of 60, it is very important that you ask your doctor
to measure your risk factors. The rest of your family (especially your brothers, sisters and
children) also need to have their risk factors measured.This information sheet describes one special case of inherited risk inherited high blood cholesterol, called familial hypercholesterolaemia (FH).

What is FH?

FH is one of the most common, potentially fatal inherited conditions. FH is when your body
does not remove enough cholesterol from your blood. This causes high blood cholesterol
levels and early heart disease in some families. About one in every 500 Australians is
affected. The good news is that FH can be successfully treated.

Why do people get FH?

A pair of genes controls the removal of cholesterol from your blood. If one of these genes
is faulty, then the removal process only works half as well. This means that your blood
cholesterol rises to about twice its usual level, even if you follow a healthy balanced diet low in saturated fat and lead a healthy lifestyle. There is approximately a 50% chance that the faulty gene will be passed on to the children of people who have FH.

How do I know if I have FH?

Most people with FH don t know that they have it, because they don t feel any symptoms.
If you think that you may have or be at risk of FH, talk to your doctor. Your doctor can do tests to find out if you have FH. People who have FH have higher blood cholesterol levels from birth and can be diagnosed at any age. With an approximately 50% chance that FH will be passed from parent to child it is important that you are aware of your family history of FH and talk to your doctor about whether or not you need to be tested. FH does not depend on your body weight, if you are male or female, or fit or unfit. However,
people with FH will almost always have a high blood cholesterol level. Because there are lots of other things that can cause high blood cholesterol levels, your doctor will also consider other risk factors to find out if you have FH.Another indication that you might have FH is if you have lumps on the tendons on the back of your hands and heels. Sometimes people with FH get lumps of cholesterol in these areas.

What can be done about FH?

Families at high risk of early heart disease may not realise that it could be because they have FH, or that it can be treated. The treatment of FH is aimed at lowering blood cholesterol levels and reducing the risk of cardiovascular disease, such as heart attack and stroke. Treatment can be started after the onset of heart disease, but it is better to find out if you have FH before it causes any damage. The key is to identify families who have FH, and then identify the family members who have inherited FH. It is important for all people who have FH, including children, to follow a healthy lifestyle. This includes eating a healthy balanced diet low in saturated fat, being physically active and avoiding tobacco smoke. Smoking is especially dangerous if you have FH. Adults who have FH will benefit from taking cholesterol-lowering medicine. They also need to see their doctor regularly to check that their heart stays healthy.

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