Randox Biosciences on Familial Hypercholesterolemia (FH)
What is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic condition which is passed down from the parents’ genes. The British Heart Foundation has highlighted that FH is caused by a genetic mutation which means the liver is unable to remove excess ‘bad’ cholesterol (LDL), therefore, the LDL level in the blood remains high.2 Someone who suffers with FH would have high cholesterol from birth which can cause other health issues including heart and circulatory disease.
Heart UK states that more than 260,000 people in the UK may have FH. However, less than 10% of this number have been diagnosed and therefore, may not be aware of their condition.3 However, to date there are no clear symptoms if someone has FH until it is considered too late.
Familial Hypercholesterolemia (FH) symptoms
- Swollen tendons/fatty lumps on the knuckles of your hands, at the back of your ankles and knees
- Cholesterol deposits around the eye-lids (looks like pale and yellowish patches)
- Grey-white cholesterol deposits around the corneas
If untreated, about 50% of men and 30% of women with FH will develop coronary heart disease by the time they are 55. More worryingly, on average in the UK, one person a day with FH has a heart attack. About a third of people don’t survive their first heart attack, and many who do survive will have damaged hearts.
The good news is that a 2008 study part-funded by the BHF found that people with FH who are diagnosed and treated before they develop heart disease generally live as long as people who don’t have FH. That’s why it is vitally important to get diagnosed as early as possible.
How Randox Biosciences can help
Randox Biosciences offers the Familial Hypercholesterolemia (FH) Arrays I & II to help encourage early diagnosis with rapid turnaround time. This allows results to be reported within days compared with NHS waiting lists which can be substantially longer.
Our two arrays are rapid, simple and accurate which enables the simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the LDLR, ApoB and PCSK9 genes.
The mutational status can be determined rapidly from a single test, with a reduced need for confirmatory testing. Genetic analysis for FH mutations also allows for more accurate diagnosis compared to lipid profiling.
Familial Hypercholesterolemia (FH) Arrays I & II:
LDLR – 38 mutations
APOB – 1 mutation
PCSK9 – 1 mutation
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