Familial Hypercholesterolemia (FH) is a genetic disorder where the child is born with extremely high cholesterol levels. FH can trace back through several generations.  Cholesterol is vital for the normal function of the human body therefore, it is important to ensure the cholesterol levels don’t get too high because it can result in early onset cardiovascular disease. ¹

The FH Foundation states an interesting fact that 1 in 250 people worldwide have FH and over 90% of these people have not been properly diagnosed ². Majority of these people won’t know they have FH disease until they have a heart attack!

However, there are no clear symptoms if someone has FH until it is too late and the damage has been done. The warning signs include the following:¹

• 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)
• Gray-white cholesterol deposits around the corneas

A study in 2008 by the British Heart Foundation found that people with FH who are diagnosed and treated before they develop heart disease live as long people who don’t have FH ⁴. This theory emphasis the importance of getting early diagnosis to prevent long-term problems. Treatment to prevent cardiovascular disease involves taking medication prescribed by the doctor and making lifestyle changes including; modifying diet, increasing exercise, quit smoking, decrease drinking alcohol and ensure the patient gets regular sleep.

Randox offers the Familial Hypercholesterolemia (FH) Arrays I & II to help encourage early diagnosis with rapid turnaround time allowing results to be reported within days compared to NHS waiting lists which can be substantially longer. The 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 with NGS. The genetic analysis for FH mutations allows for more accurate diagnosis compared to lipid profiling.

Randox can help using the award-winning Biochip Analyser to achieve early and appropriate treatment for those with FH resulting those to adopt a healthier lifestyle and taking cholesterol-lowering medication, risk of heart disease to live a longer and healthy life!

Familial Hypercholesterolemia (FH) Arrays I & II:

• LDLR – 38 mutations
• APOB – 1 mutation
• PCSK9 – 1 mutation

 

To find out more about the products that we offer email us info@randoxbiosciences.com

 

Reference:

https://www.healthline.com/health/familial-hypercholesterolemia#symptoms

https://thefhfoundation.org/about-fh/what-is-fh