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Ryan asked...

My Dad has had a heart bypass...

My Dad has had a heart bypass and was diagnosed with Familial Hypercholesterolaemia (FH). As this is a genetic disorder, is there a diagnostic test I can take to determine if I have this and if so, how do I go about getting a test done?

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The answer

Thank you for writing in to Ask the Expert.

Familial Hypercholesterolaemia (FH) is a hereditary condition where there is an abnormal gene present which causes the cholesterol level in the body to be raised from birth as opposed to increasing during the ageing process.

Having this gene present puts individuals at a higher risk of coronary heart disease at an earlier age than would normally be seen.

It is important that if FH is diagnosed that all first degree relatives are tested e.g. parents, children and siblings.

If one of the immediate family members is found to carry the FH gene then their immediate family will be needed to be screened too.

Screening will include genetic counselling, genetic screening and blood tests to check cholesterol levels.

Your GP should commence the initial investigations but it would be likely that a referral to a specialist will be required. Your GP will be able to refer you to the appropriate specialists for the tests and medical follow-up.

It is important that these investigations are carried out as soon as possible as this allows those affected to be screened, given appropriate medical treatment and follow- up as well as enabling lifestyle changes to be considered and implemented.

Medical treatment that may need to be considered once initial investigations have commenced are;

  • Regular cholesterol blood tests
  • Medication administration e.g. Statins, aspirin and Blood Pressure Medications
  • Referral to a Dietician and other specialists

Lifestyle changes to be considered are:

  • Maintaining a healthy weight
  • Eating a healthy balanced diet
  • Reducing Salt Intake
  • Reducing alcohol and smoking intake
  • Exercising

It may be that some of these investigative measures and tests can be accessed through your private health care policy but this would need to be checked by your policy team and the relevant referrals made by your GP.

In view of your fathers’ diagnosis please can we encourage you and your family to see your GP as soon as possible in order to commence the appropriate tests and referrals for investigation.

Some useful sites for further information can be found here:

Nice - Guidance

familial-hypercholesterolaemia - BHF

Heart UK

We hope the above information helps.

Wishing you and the family all the best.

Answered by the Health at Hand nurses