Familial Hypercholesterolemia testing identifies families at increased risk of early coronary heart disease
90% of people worldwide with Familial Hypercholesterolemia (FH) remain undiagnosed and at risk.
FH is a genetic disorder characterized by abnormally high levels of low-density lipoprotein (LDL) cholesterol in the blood. This excess cholesterol can accumulate in the arteries, leading to atherosclerosis, a condition where plaque builds up in the artery walls. FH is inherited in an autosomal dominant pattern, meaning a person needs only one copy of the mutated gene to develop the condition.
Prevalence estimates vary globally, but it is generally considered a relatively common condition, affecting approximately 1 in 250 to 500 people.1
Why is early detection of FH important?
> Increased risk of heart disease:
Individuals with FH have a significantly higher risk of developing coronary heart disease at a younger age than the general population. Early detection allows for timely intervention to reduce this risk.
> Prevention
By identifying FH early, appropriate treatment can be initiated, potentially preventing serious cardiovascular events such as heart attacks and strokes.
> Family screening:
FH is an inherited disorder. Early diagnosis in one family member can lead to screening of other relatives, allowing for early identification and management.
> Improved quality of life:
Early diagnosis and treatment can help individuals with FH live longer, healthier lives and reduce the burden of cardiovascular disease.
The custom FH NGS Panel was designed with Justyna Tull, Head of Technical Programme, at All Wales Medical Genomics Services (AWMGS).
Designing a custom FH NGS panel can provide a more targeted, efficient, and sensitive approach to diagnosing and studying this genetic disorder. We collaborated the NHS All Wales Medical Genomic Services (AWMGS) to deliver a panel that works for them.
“People with Familial Hypercholesterolemia, if untreated, are at an increased risk of early coronary heart disease. Our FH cascading testing service has been a major step forward for patients with inherited high cholesterol offering an effective way of finding family members who also have FH. Working with the online design tool from Nonacus, we have been able to create a bespoke NGS panel that delivers the quality of data that we need for our service.”
Justinya Tull, Head of the Technical Programme at AWMGS
All transcripts covered for all genes
References
1. https://world-heart-federation.org/what-we-do/cholesterol/familial-hypercholesterolemia/?petition=close]