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News: FHSC

Recent FH analysis makes the news in American Heart!

Monday 1 June 2020   (0 Comments)
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Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis

Inherited high cholesterol may be common in people with heart disease

With the publication of a new paper in American Heart Association journal Circulation, 29 May, 2020, senior author of the study Dr. Antonio J. Vallejo-Vaz, has spoken to AHA news about the findings.

A clinical research fellow at the Imperial College London, Dr. Vallejo-Vaz is the coordinator for the EAS FH Studies Collaboration, a global registry to investigate FH. 

The global analysis of dozens of studies that included millions from Europe, the United States and elsewhere revealed 1 in 311 people in the general population have FH. That number spikes to about 1 in 17 among people with cardiovascular diseases such as heart attack, the study found. That's 18 times higher than in the general population. Yet it's estimated less than 10% of people worldwide with FH have been diagnosed. 

But knowing the diagnosis allows health care providers to treat FH with diet, exercise and medications, potentially reducing the risk for heart attacks and strokes. Identifying cases provides the opportunity to test family members and help prevent the consequences of FH through early detection and treatment, Dr. Vallejo-Vaz said. 

 Read the article in American Heart Association News >>

To the Circulation article >> 

Key findings from the analysis


We have conducted a meta-analysis to provide a comprehensive assessment and reliable estimation of the prevalence of FH in the general population and among those with CVD. We included 62 studies involving over 7.3 million individuals, assessing the prevalence overall and by WHO regions. We show that FH is among the most common genetic diseases in the general population and across different world regions, affecting approx. 1 in 311 individuals overall. It means approx. 25 million individuals could be affected worldwide. However, the number of cases reported (vs. those expected) is very low, with large regions of the world lacking data and so estimation of the FH burden.


Consistently with the higher risk of CVD posed by FH, the prevalence is 18-fold higher among people with already established CVD: 1 in 17 individuals; this would support the need to consider FH as a potential cause of CVD in these people, particularly when the CVD event is premature.


Based on its frequency and its genetic pattern, the identification of a case with FH offers the opportunity for screening of relatives to identify new cases of FH early in the family, before they have suffered any CVD event.


Our results make a strong case to support the advocacy for the institution of public health policies, including screening programs, to identify FH early, treat early, and prevent its global burden.

Familial hypercholesterolaemia (FH)

Familial hypercholesterolaemia (FH) is an inherited disorder that affects the metabolism of LDL-cholesterol (“bad cholesterol”) leading to high levels of cholesterol since birth. As a result, affected individuals have a substantially increased risk of cardiovascular disease (CVD, such as heart attack), particularly premature CVD (below the age of 55/60 years in men/women). Importantly, these outcomes are preventable through early identification and treatment (e.g. with statins) of these individuals. However, FH is widely underdiagnosed and undertreated.

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