Genetic Defect of Cholesterol Can Kill - Are You Affected?

Sun 12 November 2017

New NICE guidelines were published recently indicating the need to better identify individuals with a potentially deadly genetic condition which alters the metabolism of cholesterol. Familial Hypercholesterolaemia results in the build up of excessive amount of cholesterol in the blood stream and affects individuals from birth!

In the UK it is estimated that up to 260,000 individuals are affected by this condition and to date, only 15% of them have ben identified. What is even more staggering is that only 600 of 56,000 children thought to have the condition have been identified!

The risk of suffering a heart attack or stroke in men with this condition is as high as 50% by the age of 50 years and in women at least 1 in 3 will have a major cardiovascular event by the age of 60 years. The only good news is that with early diagnosis and treatment, these risks can be returned to near normal. 

Previously, Lipoprotein Cholesterol was used to identify individuals with the condition. However, the genetic mutation can exist in patients who may not reach the serum Lioprotein Cholesterol thresholds previously used for diagnosis.

NICE have now recommended that the primary care records of patients are scrutinised to identify those at high risk:

Total Cholesterol > 9mmol/L for over 30 year olds

Total Colesterol >7.5mmol/L for under 30 year olds

Referal to a specialist for genetic testing will then confirm the diagnosis and treatment with high intensity statins is then recommended...and yes...even in childhood.

The problem I see is that not many people will have had their cholesterol levels checked in childhood or early adulthood. So, if you have not had your cholesterol checked, then you should seriously consider doing so, especially if you have a family member who has been diagnosed with Familial Hypercholesterolaemia. It could quite literally save your life!


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