Randox Biosciences on Familial Hypercholesterolemia (FH)

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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

Contact us

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

 

 

 

 

 

 

 

 

 

 

 

 

 


Randox Biosciences and Familial Hypercholesterolemia (FH)

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

 

 


How Randox is helping to diagnose metabolic conditions

Metabolic health is a term used to describe a collection of required chemical reactions that take place in all living organisms. A metabolic disorder develops when an abnormal chemical reaction occurs which alters the normal metabolic process.

A common misconception surrounding metabolic health is that it refers solely to your weight, and if you are overweight you are considered to be unhealthy. But in actual fact this may not be entirely true. Good metabolism means that your body is in good overall health, which doesn’t account for just your weight! Common metabolic disorders include genetic metabolic disorders, diabetes and metabolic syndrome. Understanding and testing to see how well your metabolism is functioning is key to ensuring long lasting health.

Genetics

There are a number of genetic metabolic disorders caused by mutations of single genes. Examples of common disorders include Gaucher’s disease, hemochromatosis and cystic fibrosis. Gaucher’s disease is a genetic disorder that affects the body’s ability to break down fat that can accumulate in the liver/spleen and bone marrow. Hemochromatosis is a condition that is caused by the over-absorption and build-up of iron while cystic fibrosis is a metabolic disorder that appears as a result of a build-up of mucus in lungs/liver and intestines. Each of these metabolic disorders affect certain organs from functioning properly and therefore your overall healthiness.

Diabetes

Type 2 diabetes is one of the most common types of  metabolic disorders in the world that is expected to affect 592 million people by 2035. It is characterised by high blood sugar, insulin resistance or a lack of insulin being produced by the pancreas. Insulin resistance occurs when the body isn’t able to use insulin the right way which increases blood glucose levels. Insulin is needed for cells to take in glucose (sugar) from the bloodstream and convert it into energy. Over time this lack of insulin can damage the organs in your body.

Metabolic Syndrome

Metabolic syndrome (also known as syndrome X, Reaven’s syndrome, and CHAOS) is not a disease but a collection of risk factors that affect your health; these include high blood pressure, high blood sugar/cholesterol and abdominal fat. Left untreated, these risk factors, together, can lead to long term serious problems including an increased risk of heart disease, stroke and developing type 2 diabetes.

Can you improve your metabolic health?

Yes! The good news is that if you discover that your metabolic health is not up to scratch you can improve it through a combination of diet, exercise and lifestyle adjustments such as:

  • 30 minutes of moderate to intense exercise 5-7 times a week
  • Low-dose aspirin to reduce your risk of stroke or heart attack
  • Quit smoking
  • Medication for blood pressure/cholesterol/ blood sugar
  • Limit alcohol intake
  • Eat a healthy balanced diet

Related Products 

Randox has developed the RX series of clinical chemistry analysers for superior semi-automated and fully automated testing. The RX series extensive dedicated test menu goes beyond routine testing and has many unique and high-performance tests available. Our range of tests covers several parameters to assess your overall metabolic health.

Metabolic Health Profile

Albumin Chloride Potassium
Alkaline Phosphatase  C0Total Sodium
ALT Creatinine Total Bilirubin
AST (GOT) Glucose Total Protein
Direct Bilirubin Lactate Urea
Calcium

The RX series clinical chemistry analysers provide laboratories with a robust and smart solution ensuring you maintain a consistent workflow and can provide accurate results first time, every time. Offering excellent customer support services, our trained engineers are on hand to work with you in preserving the continuity of your operations while maximising the potential of your RX series instrument. Our world-famous test menu of high quality reagents ensures excellence in patient care, guaranteeing unrivalled precision and accuracy reducing costly test re-runs or misdiagnosis and offering complete confidence in results.

For more information visit: https://www.randox.com/clinical-chemistry-analysers/

 

 

 


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